-
1
-
-
0040920369
-
-
Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD)
-
Online Mendelian Inheritance in Man, OMIM (TM). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 1996. World Wide Web URL: http:// www.ncbi.nlm.nih.gov/Omim/
-
(1996)
Online Mendelian Inheritance in Man, OMIM (TM)
-
-
-
2
-
-
14444283397
-
Identification of a gene that causes primary open angle glaucoma
-
Stone EM, Fingert JH, Alward WLM, et al. Identification of a gene that causes primary open angle glaucoma. Science 1997;275:668-670.
-
(1997)
Science
, vol.275
, pp. 668-670
-
-
Stone, E.M.1
Fingert, J.H.2
Alward, W.L.M.3
-
3
-
-
0030942553
-
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmis) in familes linked to the GLC3A locus on chromosome 2p21
-
Stoilova I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmis) in familes linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 1997;6:641-647.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 641-647
-
-
Stoilova, I.1
Akarsu, A.N.2
Sarfarazi, M.3
-
4
-
-
0031020733
-
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
-
Munier FL, Korvatska E, Djemai A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997;15:247-251.
-
(1997)
Nat Genet
, vol.15
, pp. 247-251
-
-
Munier, F.L.1
Korvatska, E.2
Djemai, A.3
-
5
-
-
0031037951
-
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
-
Allikmets R, Singh N, Sun H, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 1997;15:236-246.
-
(1997)
Nat Genet
, vol.15
, pp. 236-246
-
-
Allikmets, R.1
Singh, N.2
Sun, H.3
-
6
-
-
0012119330
-
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
-
Allikmets R, Shroyer NF, Singh N, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997;277:1805-1807.
-
(1997)
Science
, vol.277
, pp. 1805-1807
-
-
Allikmets, R.1
Shroyer, N.F.2
Singh, N.3
-
7
-
-
0028074973
-
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
-
Glaser T, Jepeal L, Edwards JG, et al. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet 1994;7:463-471.
-
(1994)
Nat Genet
, vol.7
, pp. 463-471
-
-
Glaser, T.1
Jepeal, L.2
Edwards, J.G.3
-
8
-
-
0026315044
-
Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region
-
Ton CCT, Hirvonen H, Miwa H, et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 1991;67:1059-1074.
-
(1991)
Cell
, vol.67
, pp. 1059-1074
-
-
Ton, C.C.T.1
Hirvonen, H.2
Miwa, H.3
-
9
-
-
0026907123
-
The human PAX6 gene is mutated in two patients with aniridia
-
Jordan T, Hanson I, Zaletayev D, et al. The human PAX6 gene is mutated in two patients with aniridia. Nat Genet 1992;1:328-332.
-
(1992)
Nat Genet
, vol.1
, pp. 328-332
-
-
Jordan, T.1
Hanson, I.2
Zaletayev, D.3
-
10
-
-
0026949405
-
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene
-
Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet 1992;2:232-239.
-
(1992)
Nat Genet
, vol.2
, pp. 232-239
-
-
Glaser, T.1
Walton, D.S.2
Maas, R.L.3
-
12
-
-
0028223723
-
Three autosomal dominant corneal dystrophies map to chromosome 5q
-
Stone EM, Mathers WD, Rosenwasser GO, et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet 1994;6:47-51.
-
(1994)
Nat Genet
, vol.6
, pp. 47-51
-
-
Stone, E.M.1
Mathers, W.D.2
Rosenwasser, G.O.3
-
13
-
-
0029942356
-
Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12
-
Tahvanainen E, Villanueva AS, Forsius H, et al. Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12. Genome Res 1996;6:249-254.
-
(1996)
Genome Res
, vol.6
, pp. 249-254
-
-
Tahvanainen, E.1
Villanueva, A.S.2
Forsius, H.3
-
14
-
-
0031003675
-
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy
-
Irvine AD, Corden LD, Swensson O, et al. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet 1997;16:184-187.
-
(1997)
Nat Genet
, vol.16
, pp. 184-187
-
-
Irvine, A.D.1
Corden, L.D.2
Swensson, O.3
-
15
-
-
0029807866
-
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25
-
Mears AJ, Mirzayans F, Gould DB, et al. Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. Am J Hum Genet 1996;59:1321-1327.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1321-1327
-
-
Mears, A.J.1
Mirzayans, F.2
Gould, D.B.3
-
16
-
-
0029091048
-
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)
-
Heon E, Sheth BP, Kalenak JW, et al. Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet 1995;4:1435-1439.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1435-1439
-
-
Heon, E.1
Sheth, B.P.2
Kalenak, J.W.3
-
17
-
-
0029852490
-
Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct
-
Walter MA, Mirzayans F, Mears AJ, et al. Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. Ophthalmology 1996;103:1907-1915.
-
(1996)
Ophthalmology
, vol.103
, pp. 1907-1915
-
-
Walter, M.A.1
Mirzayans, F.2
Mears, A.J.3
-
18
-
-
0029963126
-
Linkage of a gene for macular corneal dystrophy to chromosome 16
-
Vance JM, Jonasson F, Lennon F, et al. Linkage of a gene for macular corneal dystrophy to chromosome 16. Am J Hum Genet 1996;58:757-762.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 757-762
-
-
Vance, J.M.1
Jonasson, F.2
Lennon, F.3
-
19
-
-
0025869823
-
Description of X-linked megalocornea with identification of the gene locus
-
Mackey DA, Buttery RG, Wise GM, et al. Description of X-linked megalocornea with identification of the gene locus. Arch Ophthalmol 1991;109:829-833.
-
(1991)
Arch Ophthalmol
, vol.109
, pp. 829-833
-
-
Mackey, D.A.1
Buttery, R.G.2
Wise, G.M.3
-
20
-
-
0024454130
-
X-linked megalocornea: Close linkage to DXS87 and DXS94
-
Chen JD, Mackey D, Fuller H, et al. X-linked megalocornea: close linkage to DXS87 and DXS94. Hum Genet 1993;83:292-294.
-
(1993)
Hum Genet
, vol.83
, pp. 292-294
-
-
Chen, J.D.1
Mackey, D.2
Fuller, H.3
-
21
-
-
0028308664
-
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
-
Hanson IM, Fletcher JM, Jordan T, et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet 1994;6:168-173.
-
(1994)
Nat Genet
, vol.6
, pp. 168-173
-
-
Hanson, I.M.1
Fletcher, J.M.2
Jordan, T.3
-
22
-
-
0028920471
-
Linkage of posterior polymorphous corneal dystrophy to 20q11
-
Heon E, Mathers WD, Alward WLM, et al. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet 1995;4:485-488.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 485-488
-
-
Heon, E.1
Mathers, W.D.2
Alward, W.L.M.3
-
23
-
-
10544233785
-
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
-
Semina EV, Reiter R, Leysens NJ, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996;14:392-399.
-
(1996)
Nat Genet
, vol.14
, pp. 392-399
-
-
Semina, E.V.1
Reiter, R.2
Leysens, N.J.3
-
24
-
-
0031019133
-
Rieger syndrome locus: A new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193
-
Flomen RH, Gorman PA, Vatcheva R, et al. Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193. J Med Genet 1997;34:191-195.
-
(1997)
J Med Genet
, vol.34
, pp. 191-195
-
-
Flomen, R.H.1
Gorman, P.A.2
Vatcheva, R.3
-
25
-
-
0029762015
-
A second locus for Rieger syndrome maps to chromosome 13q14
-
Phillips JC, Del Bono EA, Haines JL, et al. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet 1996;59:613-619.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 613-619
-
-
Phillips, J.C.1
Del Bono, E.A.2
Haines, J.L.3
-
26
-
-
0029795076
-
The gene for Schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36
-
Shearman AM, Hudson TJ, Andresen JM, et al. The gene for Schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36. Hum Mol Genet 1996;5:1667-1672.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1667-1672
-
-
Shearman, A.M.1
Hudson, T.J.2
Andresen, J.M.3
-
27
-
-
0026722057
-
Chromosome 14 - Terminal deletion and cataracts
-
Miller BA, Jaafar MS, Capo H. Chromosome 14 - terminal deletion and cataracts. Arch Ophthalmol 1992;110:1053.
-
(1992)
Arch Ophthalmol
, vol.110
, pp. 1053
-
-
Miller, B.A.1
Jaafar, M.S.2
Capo, H.3
-
28
-
-
0030066487
-
A locus for autosomal dominant anterior polar cataract on chromosome 17p
-
Berry V, Ionides ACW, Moore AT, et al. A locus for autosomal dominant anterior polar cataract on chromosome 17p. Hum Mol Genet 1996;5:415-419.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 415-419
-
-
Berry, V.1
Ionides, A.C.W.2
Moore, A.T.3
-
29
-
-
0028835546
-
A progressive early onset cataract gene maps to human chromosome 17q24
-
Armitage MM, Kivlin JD, Ferrell RE. A progressive early onset cataract gene maps to human chromosome 17q24. Nat Genet 1995;9:37-40.
-
(1995)
Nat Genet
, vol.9
, pp. 37-40
-
-
Armitage, M.M.1
Kivlin, J.D.2
Ferrell, R.E.3
-
30
-
-
0030914095
-
Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human b-crystallin gene CRYBB2
-
Litt M, Carrero-Valenzuela R, LaMorticella DM, et al. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human b-crystallin gene CRYBB2. Hum Mol Genet 1997;6:665-668.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 665-668
-
-
Litt, M.1
Carrero-Valenzuela, R.2
LaMorticella, D.M.3
-
31
-
-
0030217901
-
A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22
-
Kramer P, Yount J, Mitchell T, et al. A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. Genomics 1996;35:539-542.
-
(1996)
Genomics
, vol.35
, pp. 539-542
-
-
Kramer, P.1
Yount, J.2
Mitchell, T.3
-
32
-
-
0024762927
-
X-linked cataract and X-linked microphthalmos: How many deletion families?
-
Warburg M. X-linked cataract and X-linked microphthalmos: how many deletion families? (Letter). Am J Med Genet 1989;34:451-453.
-
(1989)
Am J Med Genet
, vol.34
, pp. 451-453
-
-
Warburg, M.1
-
33
-
-
0023131304
-
A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family
-
Lubsen NH, Renwick JH, Tsui L-C, et al. A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family. Proc Natl Acad Sci USA 1987;84:489-492.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 489-492
-
-
Lubsen, N.H.1
Renwick, J.H.2
Tsui, L.-C.3
-
34
-
-
0024358052
-
Autosomal dominant congenital cataract on chromosome 16
-
Marner E. Autosomal dominant congenital cataract on chromosome 16. Clin Genet 1989;36:326.
-
(1989)
Clin Genet
, vol.36
, pp. 326
-
-
Marner, E.1
-
35
-
-
0024334955
-
Autosomal dominant congenital cataract. Morphology and genetic mapping
-
Marner E, Rosenberg T, Eiberg H. Autosomal dominant congenital cataract. Morphology and genetic mapping. Acta Ophthalmol 1989;67:151-158.
-
(1989)
Acta Ophthalmol
, vol.67
, pp. 151-158
-
-
Marner, E.1
Rosenberg, T.2
Eiberg, H.3
-
36
-
-
0031021393
-
A locus for autosomal dominant posterior polar cataract on chromosome 1p
-
Ionides ACW, Berry V, Mackay DS, et al. A locus for autosomal dominant posterior polar cataract on chromosome 1p. Hum Mol Genet 1997;6:47-51.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 47-51
-
-
Ionides, A.C.W.1
Berry, V.2
Mackay, D.S.3
-
37
-
-
0029002373
-
Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36
-
Eiberg H, Lund AM, Warburg M, Rosenberg T. Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. Hum Genet 1995;96:33-38.
-
(1995)
Hum Genet
, vol.96
, pp. 33-38
-
-
Eiberg, H.1
Lund, A.M.2
Warburg, M.3
Rosenberg, T.4
-
38
-
-
0030978852
-
A new locus for dominant 'zonular pulverulent' cataract, on chromosome 13
-
Mackay D, Ionides A, Berry V, et al. A new locus for dominant 'zonular pulverulent' cataract, on chromosome 13. Am J Hum Genet 1997;60:1474-1478.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1474-1478
-
-
Mackay, D.1
Ionides, A.2
Berry, V.3
-
39
-
-
0018247998
-
Confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkage studies
-
Conneally PM, Wilson AF, Merritt AD, et al. confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkage studies. Cytogenet Cell Genet 1978;22:295-297.
-
(1978)
Cytogenet Cell Genet
, vol.22
, pp. 295-297
-
-
Conneally, P.M.1
Wilson, A.F.2
Merritt, A.D.3
-
40
-
-
0029095859
-
Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12
-
Padma T, Ayyagari R, Murty JS, et al. Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12. Am J Hum Genet 1995;57:840-845.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 840-845
-
-
Padma, T.1
Ayyagari, R.2
Murty, J.S.3
-
41
-
-
0030043232
-
Autosomal dominant zonular cataract with sutural opacities in a four-generation family
-
Basti S, Hejtmancik JF, Padma T, et al. Autosomal dominant zonular cataract with sutural opacities in a four-generation family. Am J Ophthalmol 1996;121:162-168.
-
(1996)
Am J Ophthalmol
, vol.121
, pp. 162-168
-
-
Basti, S.1
Hejtmancik, J.F.2
Padma, T.3
-
42
-
-
0028034039
-
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1
-
Edwards MJ, Challinor CJ, Colley PW, et al. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. Am J Med Genet 1994;53:65-71.
-
(1994)
Am J Med Genet
, vol.53
, pp. 65-71
-
-
Edwards, M.J.1
Challinor, C.J.2
Colley, P.W.3
-
43
-
-
0031081371
-
Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25
-
Belmouden A, Adam MF, Dupont de Dinechin S, et al. Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25. Genomics 1997;39:348-358.
-
(1997)
Genomics
, vol.39
, pp. 348-358
-
-
Belmouden, A.1
Adam, M.F.2
Dupont De Dinechin, S.3
-
44
-
-
0030586892
-
Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region
-
Stoilova D, Child A, Trifan OC, et al. Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics 1996;36:142-150.
-
(1996)
Genomics
, vol.36
, pp. 142-150
-
-
Stoilova, D.1
Child, A.2
Trifan, O.C.3
-
45
-
-
0031036668
-
Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q
-
Wirtz MK, Samples JR, Kramer PL, et al. Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. Am J Hum Genet 1997;60:296-304.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 296-304
-
-
Wirtz, M.K.1
Samples, J.R.2
Kramer, P.L.3
-
46
-
-
0029836678
-
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region
-
Akarsu AN, Turacli ME, Aktan SG, et al. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet 1996;5:1199-1203.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1199-1203
-
-
Akarsu, A.N.1
Turacli, M.E.2
Aktan, S.G.3
-
47
-
-
0030985537
-
A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36
-
Anderson JS, Pralea AM, DelBono EA, et al. A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36. Arch Ophthalmol 1997;115:384-388.
-
(1997)
Arch Ophthalmol
, vol.115
, pp. 384-388
-
-
Anderson, J.S.1
Pralea, A.M.2
DelBono, E.A.3
-
48
-
-
0026756530
-
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533
-
Li Y, Muller B, Fuhrmann C, et al. The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet 1992;51:749-754.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 749-754
-
-
Li, Y.1
Muller, B.2
Fuhrmann, C.3
-
49
-
-
0029887050
-
Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity
-
Price SM, Periam N, Humphries A, et al. Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity. Ophthalmic Genet 1996;17:52-57.
-
(1996)
Ophthalmic Genet
, vol.17
, pp. 52-57
-
-
Price, S.M.1
Periam, N.2
Humphries, A.3
-
50
-
-
0027367772
-
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy
-
Chen Z-Y, Battinelli EM, Fielder A, et al. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet 1993;5:180-183.
-
(1993)
Nat Genet
, vol.5
, pp. 180-183
-
-
Chen, Z.-Y.1
Battinelli, E.M.2
Fielder, A.3
-
51
-
-
0027213199
-
Norrie disease gene: Characterization of deletions and possible function
-
Chen Z-Y, Battinelli EM, Hendriks RW, et al. Norrie disease gene: characterization of deletions and possible function. Genomics 1993;16:533-535.
-
(1993)
Genomics
, vol.16
, pp. 533-535
-
-
Chen, Z.-Y.1
Battinelli, E.M.2
Hendriks, R.W.3
-
52
-
-
0025095962
-
X-linked myopia: Bornholm eye disease - Linkage to DNA markers on the distal part of Xq
-
Schwartz M, Haim M, Skarsholm D. X-linked myopia: Bornholm eye disease - linkage to DNA markers on the distal part of Xq. Clin Genet 1990;38:281-286.
-
(1990)
Clin Genet
, vol.38
, pp. 281-286
-
-
Schwartz, M.1
Haim, M.2
Skarsholm, D.3
-
53
-
-
0026878927
-
Isolation of a candidate gene for Norrie disease by positional cloning
-
Berger W, Meindl A, Van De Pol TJR, et al. Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet 1992;1:199-203.
-
(1992)
Nat Genet
, vol.1
, pp. 199-203
-
-
Berger, W.1
Meindl, A.2
Van De Pol, T.J.R.3
-
54
-
-
0026879015
-
Isolation and characterization of a candidate gene for Norrie disease
-
Chen Z-Y, Hendriks RW, Jobling MA, et al. Isolation and characterization of a candidate gene for Norrie disease. Nat Genet 1992;1:204-208.
-
(1992)
Nat Genet
, vol.1
, pp. 204-208
-
-
Chen, Z.-Y.1
Hendriks, R.W.2
Jobling, M.A.3
-
55
-
-
0030044029
-
An animal model for Norrie disease (ND): Gene targeting of the mouse ND gene
-
Berger W, Van de Pol D, Bachner D, et al. An animal model for Norrie disease (ND): gene targeting of the mouse ND gene. Hum Mol Genet 1996;5:51-59.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 51-59
-
-
Berger, W.1
Van De Pol, D.2
Bachner, D.3
-
56
-
-
0027018441
-
Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13
-
Stone EM, Kimura AE, Folk JC, et al. Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. Hum Mol Genet 1992;1:685-689.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 685-689
-
-
Stone, E.M.1
Kimura, A.E.2
Folk, J.C.3
-
57
-
-
0027248046
-
X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus
-
Ravia Y, Braier-Goldstein O, Bat-Miriam KM, et al. X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus. Hum Mol Genet 1993;2:1295-1297.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1295-1297
-
-
Ravia, Y.1
Braier-Goldstein, O.2
Bat-Miriam, K.M.3
-
58
-
-
0029049088
-
Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14
-
Brown DM, Graemiger RA, Hergersberg M, et al. Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. Arch Ophthalmol 1995;113:671-675.
-
(1995)
Arch Ophthalmol
, vol.113
, pp. 671-675
-
-
Brown, D.M.1
Graemiger, R.A.2
Hergersberg, M.3
-
59
-
-
0027365381
-
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine a1-67 and that causes cataracts and retinal detachment: Evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)
-
Körkkö K, Ritvaniemi P, Haataja L, et al. Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine a1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy). Am J Med Genet 1993;53:55-61.
-
(1993)
Am J Med Genet
, vol.53
, pp. 55-61
-
-
Körkkö, K.1
Ritvaniemi, P.2
Haataja, L.3
-
60
-
-
0030915701
-
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling
-
Arbour NC, Zlotogora J, Knowlton RG, et al. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet 1997;6:689-694.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 689-694
-
-
Arbour, N.C.1
Zlotogora, J.2
Knowlton, R.G.3
-
61
-
-
0028968793
-
Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15
-
Fossdal R, Magnusson L, Weber JL, Jensson O. Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15. Hum Mol Genet 1995;4:479-483.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 479-483
-
-
Fossdal, R.1
Magnusson, L.2
Weber, J.L.3
Jensson, O.4
-
62
-
-
0028128537
-
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous
-
Leppert M, Baird L, Anderson KL, et al. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nat Genet 1994;7:108-112.
-
(1994)
Nat Genet
, vol.7
, pp. 108-112
-
-
Leppert, M.1
Baird, L.2
Anderson, K.L.3
-
63
-
-
0031127101
-
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21
-
Bruford EA, Riise R, Teague PW, et al. Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics 1997;41:93-99.
-
(1997)
Genomics
, vol.41
, pp. 93-99
-
-
Bruford, E.A.1
Riise, R.2
Teague, P.W.3
-
64
-
-
0027426195
-
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity
-
Kwitek-Black AE, Carmi R, Duyk GM, et al. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet 1993;5:392-396.
-
(1993)
Nat Genet
, vol.5
, pp. 392-396
-
-
Kwitek-Black, A.E.1
Carmi, R.2
Duyk, G.M.3
-
65
-
-
0028000502
-
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
-
Sheffield VC, Carmi R, Kwitek-Black A, et al. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet 1994;3:1331-1335.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1331-1335
-
-
Sheffield, V.C.1
Carmi, R.2
Kwitek-Black, A.3
-
66
-
-
0028851065
-
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
-
Carmi R, Rokhlina T, Kwitek-Black AE, et al. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet 1995;4:9-13.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 9-13
-
-
Carmi, R.1
Rokhlina, T.2
Kwitek-Black, A.E.3
-
67
-
-
0030035986
-
The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16
-
Gregory CY, Evans K, Wijesuriya SD, et al. The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. Hum Mol Genet 1996;5:1055-1059.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1055-1059
-
-
Gregory, C.Y.1
Evans, K.2
Wijesuriya, S.D.3
-
68
-
-
9044250844
-
Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21
-
Heon E, Piguet B, Munier F, et al. Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. Arch Ophthalmol 1996;114:193-198.
-
(1996)
Arch Ophthalmol
, vol.114
, pp. 193-198
-
-
Heon, E.1
Piguet, B.2
Munier, F.3
-
69
-
-
0029939851
-
Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p
-
Lotery AJ, Ennis KT, Silvestri G, et al. Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p. Hum Genet 1996;5:705-708.
-
(1996)
Hum Genet
, vol.5
, pp. 705-708
-
-
Lotery, A.J.1
Ennis, K.T.2
Silvestri, G.3
-
70
-
-
0025064847
-
Cloning of a gene that is rearranged in patients with choroideraemia
-
Cremers FPM, Van de Pol DJR, Van Kerkhoff LPM, et al. Cloning of a gene that is rearranged in patients with choroideraemia. Nature 1990;347:674.
-
(1990)
Nature
, vol.347
, pp. 674
-
-
Cremers, F.P.M.1
Van De Pol, D.J.R.2
Van Kerkhoff, L.P.M.3
-
72
-
-
16944364182
-
Molecular basis of choroideremia (CHM): Mutations involving the Rab escort protein-1 (REP-1) gene
-
Van den Hurk JAJM, Schwartz M, Van Bokhoven H, et al. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. Hum Mutat 1997;9:110-117.
-
(1997)
Hum Mutat
, vol.9
, pp. 110-117
-
-
Van Den Hurk, J.A.J.M.1
Schwartz, M.2
Van Bokhoven, H.3
-
73
-
-
0346880364
-
Molecular cloning of human ornithine aminotransferase mRNA
-
Inana G, Totsuka S, Redmond M, et al. Molecular cloning of human ornithine aminotransferase mRNA. Proc Natl Acad Sci USA 1986;83:1203-1207.
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 1203-1207
-
-
Inana, G.1
Totsuka, S.2
Redmond, M.3
-
74
-
-
0028937340
-
Pyridoxine-responsive gyrate atrophy of the choroid and retina: Clinical and biochemical correlates of the mutation A226V
-
Michaud J, Thompson GN, Brody LC, et al. Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. Am J Hum Genet 1995;56:616-622.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 616-622
-
-
Michaud, J.1
Thompson, G.N.2
Brody, L.C.3
-
75
-
-
0029920667
-
Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13
-
Camuzat A, Rozet J-M, Dollfus H, Gerber S, et al. Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. Hum Genet 1996;97:798-801.
-
(1996)
Hum Genet
, vol.97
, pp. 798-801
-
-
Camuzat, A.1
Rozet, J.-M.2
Dollfus, H.3
Gerber, S.4
-
76
-
-
0027528652
-
A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens
-
Kajiwara K, Sandberg MA, Berson EL, Dryja TP. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet 1993;3:208-212.
-
(1993)
Nat Genet
, vol.3
, pp. 208-212
-
-
Kajiwara, K.1
Sandberg, M.A.2
Berson, E.L.3
Dryja, T.P.4
-
77
-
-
0030042489
-
Retinitis punctata albescens associated with the arg135-to-trp mutation in the rhodopsin gene
-
Souied E, Soubrane G, Benlian P, et al. Retinitis punctata albescens associated with the arg135-to-trp mutation in the rhodopsin gene. Am J Ophthalmol 1996;121:19-25.
-
(1996)
Am J Ophthalmol
, vol.121
, pp. 19-25
-
-
Souied, E.1
Soubrane, G.2
Benlian, P.3
-
78
-
-
4243229440
-
Isolation of a cDNA fragment derived from human retina mRNA which detects a locus within 13q14 often deleted in retinoblastomas
-
Dryja TP, Friend S, Weinberg RA. Isolation of a cDNA fragment derived from human retina mRNA which detects a locus within 13q14 often deleted in retinoblastomas (Abstract). Am J Hum Genet 1986;39:A29.
-
(1986)
Am J Hum Genet
, vol.39
-
-
Dryja, T.P.1
Friend, S.2
Weinberg, R.A.3
-
79
-
-
0027251051
-
Complete genomic sequence of the human retinoblastoma susceptibility gene
-
Toguchida J, McGee TL, Paterson JC, et al. Complete genomic sequence of the human retinoblastoma susceptibility gene. Genomics 1993;17:535-543.
-
(1993)
Genomics
, vol.17
, pp. 535-543
-
-
Toguchida, J.1
McGee, T.L.2
Paterson, J.C.3
-
80
-
-
0027415954
-
Characterisation of a highly polymorphic microsatellite at the DXS207 locus: Confirmation of very close linkage to the retinoschisis disease gene
-
Oudet C, Weber C, Kaplan J, et al. Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene. J Med Genet 1993;30:300-303.
-
(1993)
J Med Genet
, vol.30
, pp. 300-303
-
-
Oudet, C.1
Weber, C.2
Kaplan, J.3
-
81
-
-
0029918833
-
An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: Refined localization of RS
-
Van de Vosse E, Bergen AAB, Meershoek EJ, et al. An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. Eur J Hum Genet 1996;4:101-104.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 101-104
-
-
Van De Vosse, E.1
Bergen, A.A.B.2
Meershoek, E.J.3
-
82
-
-
0023269004
-
Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28
-
Lewis RA, Holcomb JD, Bromley WC, et al. Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28. Arch Ophthalmol 1987;105:1055-1059.
-
(1987)
Arch Ophthalmol
, vol.105
, pp. 1055-1059
-
-
Lewis, R.A.1
Holcomb, J.D.2
Bromley, W.C.3
-
83
-
-
0024449541
-
Molecular genetics of human blue cone monochromacy
-
Nathans J, Davenport CM, Maumenee IH, et al. Molecular genetics of human blue cone monochromacy. Science 1989;245:831-838.
-
(1989)
Science
, vol.245
, pp. 831-838
-
-
Nathans, J.1
Davenport, C.M.2
Maumenee, I.H.3
-
84
-
-
0026895053
-
Defective colour vision associated with a missense mutation in the human green visual pigment gene
-
Winderickx J, Sanocki E, Lindsey DT, et al. Defective colour vision associated with a missense mutation in the human green visual pigment gene. Nat Genet 1992;1:251-256.
-
(1992)
Nat Genet
, vol.1
, pp. 251-256
-
-
Winderickx, J.1
Sanocki, E.2
Lindsey, D.T.3
-
85
-
-
0026581759
-
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin
-
Weitz CJ, Miyake Y, Shinzato K, et al. Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. Am J Hum Genet 1992;50:498-507.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 498-507
-
-
Weitz, C.J.1
Miyake, Y.2
Shinzato, K.3
-
86
-
-
0026755953
-
Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment
-
Weitz CJ, Went LN, Nathans J. Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. Am J Hum Genet 1993;51:444-446.
-
(1993)
Am J Hum Genet
, vol.51
, pp. 444-446
-
-
Weitz, C.J.1
Went, L.N.2
Nathans, J.3
-
87
-
-
0027436009
-
Genetic heterogeneity among blue-cone monochromats
-
Nathans J, Maumenee IH, Zrenner E, et al. Genetic heterogeneity among blue-cone monochromats. Am J Hum Genet 1993;53:987-1000.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 987-1000
-
-
Nathans, J.1
Maumenee, I.H.2
Zrenner, E.3
-
88
-
-
0026528489
-
Late onset dominant cone dystrophy with early blue cone involvement
-
Went LN, Van Schooneveld MJ, Oosterhuis JA. Late onset dominant cone dystrophy with early blue cone involvement. J Med Genet 1992;29:295-298.
-
(1992)
J Med Genet
, vol.29
, pp. 295-298
-
-
Went, L.N.1
Van Schooneveld, M.J.2
Oosterhuis, J.A.3
-
89
-
-
0030026464
-
Mapping of autosomal dominant cone degeneration to chromosome 17p
-
Small KW, Syrquin M, Mullen L, Gehrs K. Mapping of autosomal dominant cone degeneration to chromosome 17p. Am J Ophthalmol 1996;121:13-18.
-
(1996)
Am J Ophthalmol
, vol.121
, pp. 13-18
-
-
Small, K.W.1
Syrquin, M.2
Mullen, L.3
Gehrs, K.4
-
90
-
-
0000914411
-
Cone dystrophy (X-linked) (COD1) maps between DXS7(L1.28) and DXS206(XJ1.1) and is linked to DXS84(754)
-
Bartley J, Gies C, Jacobson D. Cone dystrophy (X-linked) (COD1) maps between DXS7(L1.28) and DXS206(XJ1.1) and is linked to DXS84(754) (Abstract). Cytogenet Cell Genet 1989;51:959.
-
(1989)
Cytogenet Cell Genet
, vol.51
, pp. 959
-
-
Bartley, J.1
Gies, C.2
Jacobson, D.3
-
91
-
-
0028126874
-
Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1)
-
Hong H-K, Ferrell RE, Gorin MB. Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1). Am J Hum Genet 1994;55:1173-1181.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1173-1181
-
-
Hong, H.-K.1
Ferrell, R.E.2
Gorin, M.B.3
-
92
-
-
0030922081
-
Localization of a novel X-linked progressive cone dystrophy gene to Xq27: Evidence for genetic heterogeneity
-
Bergen AAB, Pinckers AJLG. Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity. Am J Hum Genet 1997;60:1468-1473.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1468-1473
-
-
Bergen, A.A.B.1
Pinckers, A.J.L.G.2
-
93
-
-
0025802099
-
Deletion mapping of a retinal cone-rod dystrophy: Assignment to 18q211
-
Warburg M, Sjö O, Tranebjaerg L, et al. Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211. Am J Med Genet 1991;39:288-293.
-
(1991)
Am J Med Genet
, vol.39
, pp. 288-293
-
-
Warburg, M.1
Sjö, O.2
Tranebjaerg, L.3
-
94
-
-
0028244138
-
Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion
-
Evans K, Fryer A, Inglehearn C, et al. Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nat Genet 1994;6:210-213.
-
(1994)
Nat Genet
, vol.6
, pp. 210-213
-
-
Evans, K.1
Fryer, A.2
Inglehearn, C.3
-
95
-
-
0028794022
-
A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13
-
Balciuniene J, Johansson K, Sandgren O, et al. A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. Genomics 1995;30:281-286.
-
(1995)
Genomics
, vol.30
, pp. 281-286
-
-
Balciuniene, J.1
Johansson, K.2
Sandgren, O.3
-
96
-
-
0008349745
-
Autosomal dominant cone degeneration maps to chromosome 17p
-
Small KW, Mullen L, Syrquin M, et al. Autosomal dominant cone degeneration maps to chromosome 17p. Am J Hum Genet 1995;57:A203.
-
(1995)
Am J Hum Genet
, vol.57
-
-
Small, K.W.1
Mullen, L.2
Syrquin, M.3
-
97
-
-
0030894570
-
Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p
-
Kelsell RE, Evans K, Gregory CY, et al. Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. Hum Mol Genet 1997;6:597-600.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 597-600
-
-
Kelsell, R.E.1
Evans, K.2
Gregory, C.Y.3
-
98
-
-
0026564965
-
Molecular analysis of Type I-A (tyrosinase negative) oculocutaneous albinism
-
Oetting WS, King RA. Molecular analysis of Type I-A (tyrosinase negative) oculocutaneous albinism. Hum Genet 1992;90:258-262.
-
(1992)
Hum Genet
, vol.90
, pp. 258-262
-
-
Oetting, W.S.1
King, R.A.2
-
99
-
-
0026636855
-
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions
-
Tripathi RK, Strunk KM, Giebel LB, et al. Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. Am J Med Genet 1992;43:865-871.
-
(1992)
Am J Med Genet
, vol.43
, pp. 865-871
-
-
Tripathi, R.K.1
Strunk, K.M.2
Giebel, L.B.3
-
100
-
-
0027478888
-
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico
-
Oetting WS, Witkop CJ Jr, Brown SA, et al. A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. Am J Hum Genet 1993;52:17-23.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 17-23
-
-
Oetting, W.S.1
Witkop Jr., C.J.2
Brown, S.A.3
-
101
-
-
0027416538
-
Molecular analyses of a tyrosinase-negative albino family
-
Park KC, Chintamaneni CD, Halaban R, et al. Molecular analyses of a tyrosinase-negative albino family. Am J Hum Genet 1993;52:406-413.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 406-413
-
-
Park, K.C.1
Chintamaneni, C.D.2
Halaban, R.3
-
102
-
-
0028878474
-
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
-
Fukai K, Holmes SA, Lucchese NJ, et al. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet 1995;9:92-95.
-
(1995)
Nat Genet
, vol.9
, pp. 92-95
-
-
Fukai, K.1
Holmes, S.A.2
Lucchese, N.J.3
-
103
-
-
0025729679
-
Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism
-
Giebel LB, Tripathi RK, Strunk KM, et al. Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism. Am J Hum Genet 1991;48:1159-1167.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1159-1167
-
-
Giebel, L.B.1
Tripathi, R.K.2
Strunk, K.M.3
-
104
-
-
0026687861
-
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12
-
Ramsay M, Colman M-A, Stevens G, et al. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet 1992;51:879-884.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 879-884
-
-
Ramsay, M.1
Colman, M.-A.2
Stevens, G.3
-
105
-
-
0027509280
-
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
-
Rinchik EM, Bultman SJ, Horsthemke B, et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 1993;361:72-76.
-
(1993)
Nature
, vol.361
, pp. 72-76
-
-
Rinchik, E.M.1
Bultman, S.J.2
Horsthemke, B.3
-
106
-
-
0028942723
-
Organization and sequence of the human P gene and identification of a new family of transport proteins
-
Lee S-T, Nicholls RD, Jong MTC, et al. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 1995;26:354-363.
-
(1995)
Genomics
, vol.26
, pp. 354-363
-
-
Lee, S.-T.1
Nicholls, R.D.2
Jong, M.T.C.3
-
107
-
-
0029886028
-
Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as 'OCA3.'
-
Boissy RE, Zhao H, Oetting WS, et al. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as 'OCA3.' Am J Hum Genet 1996;58:1145-1156.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1145-1156
-
-
Boissy, R.E.1
Zhao, H.2
Oetting, W.S.3
-
108
-
-
19244364490
-
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43
-
Barrat FJ, Auloge L, Pastural E, et al. Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. Am J Hum Genet 1996;59:625-632.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 625-632
-
-
Barrat, F.J.1
Auloge, L.2
Pastural, E.3
-
109
-
-
0030752986
-
Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein
-
Karim AM, Nagel DL, Kandil HH et al. Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet 1997;6:1087-1089.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1087-1089
-
-
Karim, A.M.1
Nagel, D.L.2
Kandil, H.H.3
-
110
-
-
0030293220
-
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles
-
Oh J, Bailin T, Fukai K, et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 1996;14:300-306.
-
(1996)
Nat Genet
, vol.14
, pp. 300-306
-
-
Oh, J.1
Bailin, T.2
Fukai, K.3
-
111
-
-
0024468929
-
An Xp22 microdeletion associated with ocular albinism and ichthyosis: Approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry
-
Schnur RE, Trask BJ, Van den Engh G, et al. An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. Am J Hum Genet 1989;45:706-720.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 706-720
-
-
Schnur, R.E.1
Trask, B.J.2
Van Den Engh, G.3
-
112
-
-
0024802646
-
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
-
Ballabio A, Bardoni B, Carrozzo R, et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 1989;86:10001-10005.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 10001-10005
-
-
Ballabio, A.1
Bardoni, B.2
Carrozzo, R.3
-
113
-
-
0027278123
-
Refinement of the localization of the X-linked ocular albinism gene
-
Bergen AAB, Zijp P, Schuurman EJM, et al. Refinement of the localization of the X-linked ocular albinism gene. Genomics 1993;16:272-273.
-
(1993)
Genomics
, vol.16
, pp. 272-273
-
-
Bergen, A.A.B.1
Zijp, P.2
Schuurman, E.J.M.3
-
114
-
-
0027284779
-
Genetic mapping of X-linked ocular albinism: Linkage analysis in a large Newfoundland kindred
-
Charles SJ, Green JS, Moore AT, et al. Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred. Genomics 1993;16:259-261.
-
(1993)
Genomics
, vol.16
, pp. 259-261
-
-
Charles, S.J.1
Green, J.S.2
Moore, A.T.3
-
115
-
-
0029059066
-
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
-
Bassi MT, Schiaffino MV, Renieri A, et al. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet 1995;10:13-19.
-
(1995)
Nat Genet
, vol.10
, pp. 13-19
-
-
Bassi, M.T.1
Schiaffino, M.V.2
Renieri, A.3
-
116
-
-
0026089211
-
Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis
-
Alitalo T, Kruse TA, Forsius H, et al. Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis. Am J Hum Genet 1991;48:31-38.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 31-38
-
-
Alitalo, T.1
Kruse, T.A.2
Forsius, H.3
-
117
-
-
0027482799
-
Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome
-
Glass IA, Good P, Coleman MP, et al. Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. J Med Genet 1993;30:1044-1050.
-
(1993)
J Med Genet
, vol.30
, pp. 1044-1050
-
-
Glass, I.A.1
Good, P.2
Coleman, M.P.3
-
118
-
-
0027440498
-
X-linked ocular albinism and sensorineural deafness: Linkage to Xp22.3
-
Winship IM, Babaya M, Ramesar RS. X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3. Genomics 1993;18:444-445.
-
(1993)
Genomics
, vol.18
, pp. 444-445
-
-
Winship, I.M.1
Babaya, M.2
Ramesar, R.S.3
-
119
-
-
0028245437
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
-
Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994;264:1604-1608.
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.P.3
-
120
-
-
0027315299
-
Human rod cGMP-gated cation channel gene maps to 4p12-to-centromere by chromosomal in situ hybridization
-
Griffin CA, Ding CL, Jabs EW, et al. Human rod cGMP-gated cation channel gene maps to 4p12-to-centromere by chromosomal in situ hybridization. Genomics 1993;16:302-303.
-
(1993)
Genomics
, vol.16
, pp. 302-303
-
-
Griffin, C.A.1
Ding, C.L.2
Jabs, E.W.3
-
121
-
-
0028820045
-
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa
-
Dryja TP, Finn JT, Peng Y-W, et al. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci USA 1995;92: 10177-10181.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 10177-10181
-
-
Dryja, T.P.1
Finn, J.T.2
Peng, Y.-W.3
-
122
-
-
0026668037
-
Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: Sublocalization to human 11q13 between PGA and PYGM
-
Bascom RA, Garcia-Heras J, Hsieh C-L, et al. Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM. Am J Hum Genet 1992;51:1028-1035.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1028-1035
-
-
Bascom, R.A.1
Garcia-Heras, J.2
Hsieh, C.-L.3
-
123
-
-
0027424711
-
Polymorphisms and rare sequence variants at the ROM1 locus
-
Bascom RA, Liu L, Humphries P, et al. Polymorphisms and rare sequence variants at the ROM1 locus. Hum Mol Genet 1993;2:1975-1977.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1975-1977
-
-
Bascom, R.A.1
Liu, L.2
Humphries, P.3
-
124
-
-
0028789921
-
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase
-
Huang SH, Pittler SJ, Huang X, et al. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet 1995;11:468-471.
-
(1995)
Nat Genet
, vol.11
, pp. 468-471
-
-
Huang, S.H.1
Pittler, S.J.2
Huang, X.3
-
125
-
-
0028921035
-
Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa
-
Bayes M, Giordano M, Balcells S, et al. Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Hum Mutat 1995;5:228-234.
-
(1995)
Hum Mutat
, vol.5
, pp. 228-234
-
-
Bayes, M.1
Giordano, M.2
Balcells, S.3
-
126
-
-
0028917492
-
Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan
-
Leutelt J, Oehlmann R, Younus F, van et al. Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan. Clin Genet 1995;47:122-124.
-
(1995)
Clin Genet
, vol.47
, pp. 122-124
-
-
Leutelt, J.1
Oehlmann, R.2
Van Younus, F.3
-
127
-
-
0025105161
-
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
-
Dryja TP, Mcgee TL, Reichel E, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990;343:364-366.
-
(1990)
Nature
, vol.343
, pp. 364-366
-
-
Dryja, T.P.1
Mcgee, T.L.2
Reichel, E.3
-
128
-
-
0025007531
-
Autosomal dominant retinitis pigmentosa: Linkage to rhodopsin and evidence for genetic heterogeneity
-
Farrar GJ, McWilliam P, Bradley DG, et al. Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity. Genomics 1990;8:35-40.
-
(1990)
Genomics
, vol.8
, pp. 35-40
-
-
Farrar, G.J.1
McWilliam, P.2
Bradley, D.G.3
-
129
-
-
0024745724
-
Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3
-
Mcwilliam P, Farrar GJ, Kenna P, et al. Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. Genomics 1989;5:619-622.
-
(1989)
Genomics
, vol.5
, pp. 619-622
-
-
Mcwilliam, P.1
Farrar, G.J.2
Kenna, P.3
-
130
-
-
0029893291
-
Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC)
-
Van Soest S, Nijenhuis ST, Van den Born LI, et al. Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC). Cytogenet Cell Genet 1996;73:81-85.
-
(1996)
Cytogenet Cell Genet
, vol.73
, pp. 81-85
-
-
Van Soest, S.1
Nijenhuis, S.T.2
Van Den Born, L.I.3
-
131
-
-
0028017387
-
Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p
-
Knowles JA, Shugart Y, Banerjee P, et al. Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum Molec Genet 1994;3:1401-1403.
-
(1994)
Hum Molec Genet
, vol.3
, pp. 1401-1403
-
-
Knowles, J.A.1
Shugart, Y.2
Banerjee, P.3
-
132
-
-
0029056633
-
Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21
-
Shugart YY, Banerjee P, Knowles JA, et al. Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21 (Letter). Am J Hum Genet 1995;57:499-502.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 499-502
-
-
Shugart, Y.Y.1
Banerjee, P.2
Knowles, J.A.3
-
133
-
-
0000442299
-
Genetic linkage in autosomal recessive retinitis pigmentosa
-
Bruford EA, Mansfield DC, Teague PW, et al. Genetic linkage in autosomal recessive retinitis pigmentosa (Abstract). Am J Hum Genet 1994;55:181.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 181
-
-
Bruford, E.A.1
Mansfield, D.C.2
Teague, P.W.3
-
134
-
-
0026347736
-
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8
-
Blanton SH, Heckenlively JR, Cottingham AW, et al. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics 1991;11:857-869.
-
(1991)
Genomics
, vol.11
, pp. 857-869
-
-
Blanton, S.H.1
Heckenlively, J.R.2
Cottingham, A.W.3
-
135
-
-
0026596042
-
Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: Relationship to disk membrane morphogenesis and retinal degeneration
-
Arikawa K, Molday LL, Molday RS, et al. Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. J Cell Biol 1992;116:659-667.
-
(1992)
J Cell Biol
, vol.116
, pp. 659-667
-
-
Arikawa, K.1
Molday, L.L.2
Molday, R.S.3
-
136
-
-
0027326186
-
Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8)
-
Kumar-Singh R, Farrar GJ, Mansergh F, et al. Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8). Hum Mol Genet 1993;2:875-878.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 875-878
-
-
Kumar-Singh, R.1
Farrar, G.J.2
Mansergh, F.3
-
137
-
-
0027309259
-
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p
-
Inglehearn CF, Carter SA, Keen TJ, et al. A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet 1993;4:51-53.
-
(1993)
Nat Genet
, vol.4
, pp. 51-53
-
-
Inglehearn, C.F.1
Carter, S.A.2
Keen, T.J.3
-
138
-
-
0028037964
-
Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic
-
Inglehearn CF, Keen TJ, Al-Maghtheh M, Bhattacharya S. Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic (Letter). Am J Hum Genet 1994;55:581-582.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 581-582
-
-
Inglehearn, C.F.1
Keen, T.J.2
Al-Maghtheh, M.3
Bhattacharya, S.4
-
139
-
-
0027155177
-
Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q
-
Jordan SA, Farrar GJ, Kenna P, et al. Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nat Genet 1993;4:54-57.
-
(1993)
Nat Genet
, vol.4
, pp. 54-57
-
-
Jordan, S.A.1
Farrar, G.J.2
Kenna, P.3
-
140
-
-
0028831395
-
Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: Linkage mapping in a second, unrelated family
-
McGuire RE, Gannon AM, Sullivan LS, et al. Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family. Hum Genet 1995;95:71-74.
-
(1995)
Hum Genet
, vol.95
, pp. 71-74
-
-
McGuire, R.E.1
Gannon, A.M.2
Sullivan, L.S.3
-
141
-
-
0028123295
-
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
-
Al-Maghtheh M, Inglehearn CF, Keen TJ, et al. Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet 1994;3:351-354.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 351-354
-
-
Al-Maghtheh, M.1
Inglehearn, C.F.2
Keen, T.J.3
-
142
-
-
0029797311
-
Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11), and association with a unique bimodal expressivity phenotype
-
Al-Maghtheh M, Vithana E, Tarttelin E, et al. Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11), and association with a unique bimodal expressivity phenotype. Am J Hum Genet 1996;59:864-871.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 864-871
-
-
Al-Maghtheh, M.1
Vithana, E.2
Tarttelin, E.3
-
143
-
-
0028363788
-
A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17
-
Greenberg J, Goliath R, Beighton P, Ramesar R. A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum Mol Genet 1994;3:915-918.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 915-918
-
-
Greenberg, J.1
Goliath, R.2
Beighton, P.3
Ramesar, R.4
-
144
-
-
0029132648
-
Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p
-
Goliath R, Shugart Y, Janssens P, et al. Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p (Letter). Am J Hum Genet 1995;57:962-965.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 962-965
-
-
Goliath, R.1
Shugart, Y.2
Janssens, P.3
-
145
-
-
0029143376
-
An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q
-
Bardien S, Ebenezer N, Greenberg J, et al. An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. Hum Mol Genet 1995;4:1459-1462.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1459-1462
-
-
Bardien, S.1
Ebenezer, N.2
Greenberg, J.3
-
146
-
-
0029838709
-
A ninth locus (RP18) for the autosomal dominant retinitis pigmentosa maps in the pericentric region of chromosome I
-
Xu SY, Schwartz M, Rosenberg T, Gal A. A ninth locus (RP18) for the autosomal dominant retinitis pigmentosa maps in the pericentric region of chromosome I. Hum Mol Genet 1996;5:1193-1197.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1193-1197
-
-
Xu, S.Y.1
Schwartz, M.2
Rosenberg, T.3
Gal, A.4
-
147
-
-
0021344697
-
Close linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28
-
Bhattacharya SS, Wright AF, Clayton JF, et al. Close linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 1984;309:253-255.
-
(1984)
Nature
, vol.309
, pp. 253-255
-
-
Bhattacharya, S.S.1
Wright, A.F.2
Clayton, J.F.3
-
148
-
-
0029841724
-
Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: A genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping
-
Thiselton DL, Hampson RM, Nayudu M, et al. Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping. Genome Res 1996;6:1093-1102.
-
(1996)
Genome Res
, vol.6
, pp. 1093-1102
-
-
Thiselton, D.L.1
Hampson, R.M.2
Nayudu, M.3
-
149
-
-
0025774002
-
Genetic localization of the RP2 type of X linked retinitis pigmentosa in a large kindred
-
Wright AF, Bhattacharya SS, Aldred MA, et al. Genetic localization of the RP2 type of X linked retinitis pigmentosa in a large kindred. J Med Genet 1991;28:453-457.
-
(1991)
J Med Genet
, vol.28
, pp. 453-457
-
-
Wright, A.F.1
Bhattacharya, S.S.2
Aldred, M.A.3
-
150
-
-
15844378213
-
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
-
Meindl A, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 1996;13:35-42.
-
(1996)
Nat Genet
, vol.13
, pp. 35-42
-
-
Meindl, A.1
Dry, K.2
Herrmann, K.3
-
151
-
-
8944241311
-
Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1
-
Roepman R, Van Duijnhoven G, Rosenberg T, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet 1996;5:1035-1041.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1035-1041
-
-
Roepman, R.1
Van Duijnhoven, G.2
Rosenberg, T.3
-
152
-
-
0025190712
-
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests
-
Ott J, Bhattacharya S, Chen JD, et al. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci USA 1990;87:701-704.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 701-704
-
-
Ott, J.1
Bhattacharya, S.2
Chen, J.D.3
-
153
-
-
0029020995
-
X-linked dominant cone-rod degeneration: Linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11
-
McGuire RE, Sullivan LS, Blanton SH, et al. X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11. Am J Hum Genet 1995;57:87-94.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 87-94
-
-
McGuire, R.E.1
Sullivan, L.S.2
Blanton, S.H.3
-
154
-
-
0027058632
-
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
-
Kaplan J, Gerber S, Bonneau D, et al. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics 1992;14:979-987.
-
(1992)
Genomics
, vol.14
, pp. 979-987
-
-
Kaplan, J.1
Gerber, S.2
Bonneau, D.3
-
155
-
-
0028815440
-
Defective myosin VIIA gene responsible for Usher syndrome type 1B
-
Weil D, Blanchard S, Kaplan J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995;374:60-61.
-
(1995)
Nature
, vol.374
, pp. 60-61
-
-
Weil, D.1
Blanchard, S.2
Kaplan, J.3
-
156
-
-
0346210139
-
Myosin VIIA gene: Heterogeneity of the mutations responsible for Usher syndrome type IB
-
Levy G, Levi-Acobas F, Blanchard S, et al. Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. Hum Mol Genet 1997;6:111-116.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 111-116
-
-
Levy, G.1
Levi-Acobas, F.2
Blanchard, S.3
-
157
-
-
0028226978
-
Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11
-
Keats BJB, Nouri N, Pelias MZ, et al. Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. Am J Hum Genet 1994;54:681-686.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 681-686
-
-
Keats, B.J.B.1
Nouri, N.2
Pelias, M.Z.3
-
158
-
-
0028972472
-
Mouse model for Usher syndrome: Linkage mapping suggests homology to Usher type I reported at human chromosome 11p15
-
Heckenlively JR, Chang B, Erway LC, et al. Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15. Proc Natl Acad Sci USA 1995;92:11100-11104.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 11100-11104
-
-
Heckenlively, J.R.1
Chang, B.2
Erway, L.C.3
-
159
-
-
0029798669
-
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10
-
Wayne S, Der Kaloustian VM, Schloss M, et al. Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet 1996;5:1689-1692.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1689-1692
-
-
Wayne, S.1
Der Kaloustian, V.M.2
Schloss, M.3
-
160
-
-
0031032971
-
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21
-
Chaib H, Kaplan J, Gerber S, et al. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Hum Mol Genet 1997;6:27-31.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 27-31
-
-
Chaib, H.1
Kaplan, J.2
Gerber, S.3
-
161
-
-
0025323589
-
Mapping recessive ophthalmic diseases: Linkage of locus for Usher syndrome Type II to a DNA marker on chromosome 1q
-
Lewis RA, Otterud B, Stauffer D, et al. Mapping recessive ophthalmic diseases: linkage of locus for Usher syndrome Type II to a DNA marker on chromosome 1q. Genomics 1990;7:250-256.
-
(1990)
Genomics
, vol.7
, pp. 250-256
-
-
Lewis, R.A.1
Otterud, B.2
Stauffer, D.3
-
162
-
-
0025308736
-
Localization of Usher syndrome Type II to chromosome 1q
-
Kimberling WJ, Weston MD, MÜller C, et al. Localization of Usher syndrome Type II to chromosome 1q. Genomics 1990;7:245-249.
-
(1990)
Genomics
, vol.7
, pp. 245-249
-
-
Kimberling, W.J.1
Weston, M.D.2
Müller, C.3
-
164
-
-
4244169670
-
The existence of Usher syndrome type III proven by assignment of its locus to chromosome 3q by linkage
-
Sankila E-M, Pakarinen L, Sistonen P, et al. The existence of Usher syndrome type III proven by assignment of its locus to chromosome 3q by linkage (Abstract). Am J Hum Genet 1994;55(Suppl.):A15 only.
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
-
-
Sankila, E.-M.1
Pakarinen, L.2
Sistonen, P.3
-
165
-
-
0028836898
-
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q
-
Sankila E-M, Pakarinen L, Kaariainen H, et al. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet 1995;4:93-98.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 93-98
-
-
Sankila, E.-M.1
Pakarinen, L.2
Kaariainen, H.3
-
166
-
-
0027447531
-
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy
-
Wells J, Wroblewski J, Keen J, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 1993;3:213-218.
-
(1993)
Nat Genet
, vol.3
, pp. 213-218
-
-
Wells, J.1
Wroblewski, J.2
Keen, J.3
-
167
-
-
0029037935
-
A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy
-
Reig C, Serra A, Gean E, et al. A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. Ophthalmic Genet 1995;16:35-44.
-
(1995)
Ophthalmic Genet
, vol.16
, pp. 35-44
-
-
Reig, C.1
Serra, A.2
Gean, E.3
-
168
-
-
0027976168
-
Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p
-
Kremer H, Pinckers A, Van den Heim B, et al. Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p. Hum Mol Genet 1994;3:299-302.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 299-302
-
-
Kremer, H.1
Pinckers, A.2
Van Den Heim, B.3
-
169
-
-
0026710901
-
North Carolina macular dystrophy is assigned to chromosome 6
-
Small KW, Weber JL, Roses A, et al. North Carolina macular dystrophy is assigned to chromosome 6. Genomics 1992;13:681-685.
-
(1992)
Genomics
, vol.13
, pp. 681-685
-
-
Small, K.W.1
Weber, J.L.2
Roses, A.3
-
170
-
-
0029127270
-
Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q
-
Kelsell RE, Godley BF, Evans K, et al. Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Hum Mol Genet 1995;4:1653-1656.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1653-1656
-
-
Kelsell, R.E.1
Godley, B.F.2
Evans, K.3
-
171
-
-
0031038238
-
Autosomal recessive Sorsby fundus dystrophy revisited: Molecular evidence for dominant inheritance
-
Felbor U, Suvanto EA, Forsius HR, et al. Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. Am J Hum Genet 1997;60:57-62.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 57-62
-
-
Felbor, U.1
Suvanto, E.A.2
Forsius, H.R.3
-
172
-
-
0028097367
-
Mutations in the tissue inhibitor metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
-
Weber BHF, Vogt G, Pruett RC, et al. Mutations in the tissue inhibitor metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 1994;8:352-356.
-
(1994)
Nat Genet
, vol.8
, pp. 352-356
-
-
Weber, B.H.F.1
Vogt, G.2
Pruett, R.C.3
-
173
-
-
0029790616
-
Genetic fine mapping of the gene for recessive Stargardt disease
-
Hoyng CB, Poppelaars F, Van de Pol TJR, et al. Genetic fine mapping of the gene for recessive Stargardt disease. Hum Genet 1996;98:500-504.
-
(1996)
Hum Genet
, vol.98
, pp. 500-504
-
-
Hoyng, C.B.1
Poppelaars, F.2
Van De Pol, T.J.R.3
-
174
-
-
0028366078
-
A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34
-
Zhang K, Bither PP, Park R, et al. A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. Arch Ophthalmol 1994;112:759-764.
-
(1994)
Arch Ophthalmol
, vol.112
, pp. 759-764
-
-
Zhang, K.1
Bither, P.P.2
Park, R.3
-
175
-
-
0028309553
-
Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q
-
Stone EM, Nichols BE, Kimura AE, et al. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol 1994;112:765-772.
-
(1994)
Arch Ophthalmol
, vol.112
, pp. 765-772
-
-
Stone, E.M.1
Nichols, B.E.2
Kimura, A.E.3
-
176
-
-
0028603301
-
Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci
-
Graff C, Forsman K, Larsson C, et al. Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci. Genomics 1994;24:425-434.
-
(1994)
Genomics
, vol.24
, pp. 425-434
-
-
Graff, C.1
Forsman, K.2
Larsson, C.3
-
177
-
-
0031038950
-
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness
-
Yamamoto S, Sippel KC, Berson EL, Dryja TP. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet 1997;15:175-178.
-
(1997)
Nat Genet
, vol.15
, pp. 175-178
-
-
Yamamoto, S.1
Sippel, K.C.2
Berson, E.L.3
Dryja, T.P.4
-
178
-
-
0029067542
-
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese
-
Fuchs S, Nakazawa M, Maw M, et al. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet 1995;10:360-362.
-
(1995)
Nat Genet
, vol.10
, pp. 360-362
-
-
Fuchs, S.1
Nakazawa, M.2
Maw, M.3
-
179
-
-
0029079382
-
Oguchi disease: Suggestion of linkage to markers on chromosome 2q
-
Maw MA, John S, Jablonka S, et al. Oguchi disease: suggestion of linkage to markers on chromosome 2q. J Med Genet 1995;32:396-398.
-
(1995)
J Med Genet
, vol.32
, pp. 396-398
-
-
Maw, M.A.1
John, S.2
Jablonka, S.3
-
180
-
-
0024756571
-
Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to human chromosome Xp11.3
-
Musarella MA, Weleber RG, Murphey WH, et al. Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to human chromosome Xp11.3. Genomics 1989;5:727-737.
-
(1989)
Genomics
, vol.5
, pp. 727-737
-
-
Musarella, M.A.1
Weleber, R.G.2
Murphey, W.H.3
-
181
-
-
0025272312
-
A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome
-
Bech-Hansen NT, Field LL, Schramm AM, et al. A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome. Hum Genet 1990;84:406-408.
-
(1990)
Hum Genet
, vol.84
, pp. 406-408
-
-
Bech-Hansen, N.T.1
Field, L.L.2
Schramm, A.M.3
-
182
-
-
0028242407
-
Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB
-
Bergen AAB, Kestelyn P, Leys M, Meire F. Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB. J Med Genet 1994;31:580-582.
-
(1994)
J Med Genet
, vol.31
, pp. 580-582
-
-
Bergen, A.A.B.1
Kestelyn, P.2
Leys, M.3
Meire, F.4
-
183
-
-
0029856584
-
Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1
-
Bergen AAB, Ten Brink JB, Riemslag F, et al. Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1. J Med Genet 1996;33:869-872.
-
(1996)
J Med Genet
, vol.33
, pp. 869-872
-
-
Bergen, A.A.B.1
Ten Brink, J.B.2
Riemslag, F.3
-
184
-
-
0026527931
-
Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase beta-subunit gene in mouse and human: Tight linkage to the Huntington disease region (4p16.3)
-
Altherr MR, Wasmuth JJ, Seldin MF, et al. Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase beta-subunit gene in mouse and human: tight linkage to the Huntington disease region (4p16.3). Genomics 1992;12:750-754.
-
(1992)
Genomics
, vol.12
, pp. 750-754
-
-
Altherr, M.R.1
Wasmuth, J.J.2
Seldin, M.F.3
-
185
-
-
0026554532
-
Assignment of the beta-subunit of rod photoreceptor cGMP phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human chromosome 4p16
-
Bateman JB, Klisak I, Kojis T, et al. Assignment of the beta-subunit of rod photoreceptor cGMP phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human chromosome 4p16. Genomics 1992;12:601-603.
-
(1992)
Genomics
, vol.12
, pp. 601-603
-
-
Bateman, J.B.1
Klisak, I.2
Kojis, T.3
-
187
-
-
0028798659
-
Dark-light: Model for nightblindness from the human rhodopsin gly90-to-asp mutation
-
Sieving PA, Richards JE, Naarendorp F, et al. Dark-light: model for nightblindness from the human rhodopsin gly90-to-asp mutation. Proc Natl Acad Sci USA 1995;92:880-884.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 880-884
-
-
Sieving, P.A.1
Richards, J.E.2
Naarendorp, F.3
-
188
-
-
0029902034
-
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness
-
Dryja TP, Hahn LB, Reboul T, Arnaud B. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat Genet 1996;13:358-365.
-
(1996)
Nat Genet
, vol.13
, pp. 358-365
-
-
Dryja, T.P.1
Hahn, L.B.2
Reboul, T.3
Arnaud, B.4
-
189
-
-
26844535887
-
Missense mutation in the gene encoding the alpha subunit of rod transducin cosegregates with Nougaret's congenital night blindness
-
Maumenee-Hussels IE, Hahn LB, Reboul T, et al. Missense mutation in the gene encoding the alpha subunit of rod transducin cosegregates with Nougaret's congenital night blindness. Invest Ophthalmol Vis Sci 1996;37:1146.
-
(1996)
Invest Ophthalmol Vis Sci
, vol.37
, pp. 1146
-
-
Maumenee-Hussels, I.E.1
Hahn, L.B.2
Reboul, T.3
-
190
-
-
0028966947
-
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
-
Sanyanusin P, Schimmenti LA, McNoe LA, et al. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 1995;9:358-364.
-
(1995)
Nat Genet
, vol.9
, pp. 358-364
-
-
Sanyanusin, P.1
Schimmenti, L.A.2
McNoe, L.A.3
-
191
-
-
16944366271
-
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations
-
Schimmenti LA, Cunliffe HE, McNoe LA, et al. Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. Am J Hum Genet 1997;60:869-878.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 869-878
-
-
Schimmenti, L.A.1
Cunliffe, H.E.2
McNoe, L.A.3
-
192
-
-
0029100850
-
Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer
-
Lunkes A, Hartung U, Magarino C, et al. Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer (Letter). Am J Hum Genet 1995;57:968-970.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 968-970
-
-
Lunkes, A.1
Hartung, U.2
Magarino, C.3
-
193
-
-
0031033333
-
Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)
-
Brown J Jr, Fingert JH, Taylor CM, et al. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch Ophthalmol 1997;115:95-99.
-
(1997)
Arch Ophthalmol
, vol.115
, pp. 95-99
-
-
Brown Jr., J.1
Fingert, J.H.2
Taylor, C.M.3
-
194
-
-
0031012480
-
Dominant optic atrophy, Kjer type: Linkage analysis and clinical features in a large British pedigree
-
Johnston RL, Burdon MA, Spalton DJ, et al. Dominant optic atrophy, Kjer type: linkage analysis and clinical features in a large British pedigree. Arch Ophthalmol 1997;115:100-103.
-
(1997)
Arch Ophthalmol
, vol.115
, pp. 100-103
-
-
Johnston, R.L.1
Burdon, M.A.2
Spalton, D.J.3
-
195
-
-
0031047752
-
Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q
-
Votruba M, Moore AT, Bhattacharya SS. Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. J Med Genet 1997;34:117-121.
-
(1997)
J Med Genet
, vol.34
, pp. 117-121
-
-
Votruba, M.1
Moore, A.T.2
Bhattacharya, S.S.3
-
196
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-1430.
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
-
197
-
-
0028945657
-
Leber's hereditary optic neuropathy: The clinical relevance of different mitochondrial DNA mutations
-
Riordan-Eva P, Harding AE. Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet 1995;32:81-87.
-
(1995)
J Med Genet
, vol.32
, pp. 81-87
-
-
Riordan-Eva, P.1
Harding, A.E.2
-
198
-
-
0029864808
-
A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23
-
Amati P, Gasparini P, Zlotogora J, et al. A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23 (Letter). Am J Hum Genet 1996;58:1089-1092.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1089-1092
-
-
Amati, P.1
Gasparini, P.2
Zlotogora, J.3
-
199
-
-
0029850981
-
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
-
Maw M, Kar B, Biswas J, et al. Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. Hum Mol Genet 1996;5:2049-2054.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 2049-2054
-
-
Maw, M.1
Kar, B.2
Biswas, J.3
-
200
-
-
0030895262
-
A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1
-
Engle EC, Castro AE, Macy ME, et al. A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1. Am J Hum Genet 1997;60:1150-1157.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1150-1157
-
-
Engle, E.C.1
Castro, A.E.2
Macy, M.E.3
-
201
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989;320:1293-1299.
-
(1989)
N Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
-
202
-
-
0028286575
-
Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?
-
Poulton J, Morten KJ, Weber K, et al. Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? Hum Mol Genet 1994;3:947-951.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 947-951
-
-
Poulton, J.1
Morten, K.J.2
Weber, K.3
-
203
-
-
0028168147
-
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12
-
Engle EC, Kunkel LM, Specht LA, Beggs AH. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet 1994;7:69-73.
-
(1994)
Nat Genet
, vol.7
, pp. 69-73
-
-
Engle, E.C.1
Kunkel, L.M.2
Specht, L.A.3
Beggs, A.H.4
-
204
-
-
0023877476
-
Kearns-Sayre syndrome with mscle mitochondrial DNA deletion
-
Lestienne P, Ponsot G. Kearns-Sayre syndrome with mscle mitochondrial DNA deletion (Letter). Lancet 1988;1:885.
-
(1988)
Lancet
, vol.1
, pp. 885
-
-
Lestienne, P.1
Ponsot, G.2
-
205
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988;38:1339-1346.
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
-
206
-
-
0030001442
-
A gene for autosomal dominant congenital nystagmus localizes to 6p12
-
Kerrison JB, Arnould VJ, Barmada MM, et al. A gene for autosomal dominant congenital nystagmus localizes to 6p12. Genomics 1996;33:523-526.
-
(1996)
Genomics
, vol.33
, pp. 523-526
-
-
Kerrison, J.B.1
Arnould, V.J.2
Barmada, M.M.3
-
207
-
-
0027958509
-
Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization
-
Lindsay EA, Grillo A, Ferrero GB, et al. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet 1994;49:229-234.
-
(1994)
Am J Med Genet
, vol.49
, pp. 229-234
-
-
Lindsay, E.A.1
Grillo, A.2
Ferrero, G.B.3
-
208
-
-
84907113316
-
X-linked clinical anophthalmos: Localization of the gene to Xq27-Xq28
-
Graham CA, Redmond RM, Nevin NC. X-linked clinical anophthalmos: localization of the gene to Xq27-Xq28. Ophthalmic Paediat Genet 1991;12:43-48.
-
(1991)
Ophthalmic Paediat Genet
, vol.12
, pp. 43-48
-
-
Graham, C.A.1
Redmond, R.M.2
Nevin, N.C.3
-
209
-
-
0028834528
-
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia
-
Narcisi TME, Shoulders CC, Chester SA, et al. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am J Hum Genet 1995;57:1298-1310.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1298-1310
-
-
Narcisi, T.M.E.1
Shoulders, C.C.2
Chester, S.A.3
-
210
-
-
0028969936
-
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome
-
Knebelmann B, Forestier L, Drouot L, et al. Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. Hum Mol Genet 1995;4:675-079.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 675-1079
-
-
Knebelmann, B.1
Forestier, L.2
Drouot, L.3
-
211
-
-
0028168648
-
Identification of mutations in the alpha-3 (IV) and alpha-4(IV) collagen genes in autosomal recessive Alport syndrome
-
Mochizuki T, Lemmink HH, Mariyama M, et al. Identification of mutations in the alpha-3 (IV) and alpha-4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 1994;8:77-81.
-
(1994)
Nat Genet
, vol.8
, pp. 77-81
-
-
Mochizuki, T.1
Lemmink, H.H.2
Mariyama, M.3
-
212
-
-
0026331422
-
Major rearrangements in the a5(IV) collagen gene in three patients with Alport syndrome
-
Boye E, Vetrie D, Flinter F. Major rearrangements in the a5(IV) collagen gene in three patients with Alport syndrome. Genomics 1991;11:1125-1132.
-
(1991)
Genomics
, vol.11
, pp. 1125-1132
-
-
Boye, E.1
Vetrie, D.2
Flinter, F.3
-
213
-
-
0026063744
-
Single base mutation in a5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome
-
Zhou J, Barker DF, Hostikka SL, et al. Single base mutation in a5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. Genomics 1991;9:10-18.
-
(1991)
Genomics
, vol.9
, pp. 10-18
-
-
Zhou, J.1
Barker, D.F.2
Hostikka, S.L.3
-
214
-
-
0026752763
-
Substitution of arginine for glycine 325 in the collagen a5(IV) chain associated with X-linked Alport syndrome: Characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments
-
Knebelmann B, Besehenes G, Gros F, et al. Substitution of arginine for glycine 325 in the collagen a5(IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. Am J Hum Genet 1992;51:135-142.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 135-142
-
-
Knebelmann, B.1
Besehenes, G.2
Gros, F.3
-
215
-
-
0026592147
-
DNA rearrangements in the a5(IV) collagen gene (COL4A5) of individuals with Alport syndrome: Further refinement using pulse-field gel electrophoresis
-
Vetrie D, Boye E, Flinter F, et al. DNA rearrangements in the a5(IV) collagen gene (COL4A5) of individuals with Alport syndrome: further refinement using pulse-field gel electrophoresis. Genomics 1992;14:624-033.
-
(1992)
Genomics
, vol.14
, pp. 624-1033
-
-
Vetrie, D.1
Boye, E.2
Flinter, F.3
-
216
-
-
0026631416
-
Mutation in the a5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: Detection by denaturing gradient gel electrophoresis of a PCR product
-
Zhou J, Hertz JM, Tryggvason K. Mutation in the a5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product. Am J Hum Genet 1992;50:1291-1300.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1291-1300
-
-
Zhou, J.1
Hertz, J.M.2
Tryggvason, K.3
-
217
-
-
0027080024
-
Alport syndrome: A genetic study of 31 families
-
M'rad R, Sanak M, Deschenes G, et al. Alport syndrome: a genetic study of 31 families. Hum Genet 1993;90:420-426.
-
(1993)
Hum Genet
, vol.90
, pp. 420-426
-
-
M'rad, R.1
Sanak, M.2
Deschenes, G.3
-
218
-
-
19244363372
-
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome
-
Knebelmann B, Breillat C, Forestier L, et al. Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. Am J Hum Genet 1996;59:1221-1232.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1221-1232
-
-
Knebelmann, B.1
Breillat, C.2
Forestier, L.3
-
220
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
Matsuura T, Sutcliffe JS, Fang P, et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 1997;15:74-77.
-
(1997)
Nat Genet
, vol.15
, pp. 74-77
-
-
Matsuura, T.1
Sutcliffe, J.S.2
Fang, P.3
-
221
-
-
0029057336
-
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
-
Savitsky K, Bar-Shira A, Gilad S, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995;268:1749-1753.
-
(1995)
Science
, vol.268
, pp. 1749-1753
-
-
Savitsky, K.1
Bar-Shira, A.2
Gilad, S.3
-
222
-
-
0026606009
-
An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations
-
Cross I, Delhanty J, Chapman P, et al. An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations. J Med Genet 1992;29:175-179.
-
(1992)
J Med Genet
, vol.29
, pp. 175-179
-
-
Cross, I.1
Delhanty, J.2
Chapman, P.3
-
223
-
-
0023276241
-
Gene for incontinentia pigmenti maps to band Xp11 with an (X;10)(p11;q22) translocation
-
Cannizzaro LA, Hecht F. Gene for incontinentia pigmenti maps to band Xp11 with an (X;10)(p11;q22) translocation. Clin Genet 1987;32:66-69.
-
(1987)
Clin Genet
, vol.32
, pp. 66-69
-
-
Cannizzaro, L.A.1
Hecht, F.2
-
224
-
-
0028069250
-
The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28
-
Smahi A, Hyden-Granskog C, Peterlin B, et al. The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. Hum Mol Genet 1994;3:273-278.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 273-278
-
-
Smahi, A.1
Hyden-Granskog, C.2
Peterlin, B.3
-
225
-
-
0026742127
-
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase
-
Attree O, Olivos IM, Okabe I, et al. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 1992;358:239-242.
-
(1992)
Nature
, vol.358
, pp. 239-242
-
-
Attree, O.1
Olivos, I.M.2
Okabe, I.3
-
226
-
-
0026907097
-
Second messengers and Lowe syndrome
-
Irvine R. Second messengers and Lowe syndrome. Nat Genet 1993;1:315-316.
-
(1993)
Nat Genet
, vol.1
, pp. 315-316
-
-
Irvine, R.1
-
227
-
-
0025900544
-
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
-
Lee B, Godfrey M, Vitale E, et al. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 1991;352:330-334.
-
(1991)
Nature
, vol.352
, pp. 330-334
-
-
Lee, B.1
Godfrey, M.2
Vitale, E.3
-
229
-
-
0027231568
-
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
-
Mulligan LM, Kwok JBJ, Healey CS, et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993;363:458-460.
-
(1993)
Nature
, vol.363
, pp. 458-460
-
-
Mulligan, L.M.1
Kwok, J.B.J.2
Healey, C.S.3
-
230
-
-
0027977002
-
Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B
-
Carlson KM, Dou S, Chi D, et al. Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci USA 1994;91:1579-1583.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 1579-1583
-
-
Carlson, K.M.1
Dou, S.2
Chi, D.3
-
231
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3-prime untranslated region of the gene
-
Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3-prime untranslated region of the gene. Science 1992;255:1253-1255.
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourin, L.3
-
232
-
-
0028818586
-
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat
-
Boucher CA, King SK, Carey N, et al. A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum Mol Genet 1995;4:1919-1925.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1919-1925
-
-
Boucher, C.A.1
King, S.K.2
Carey, N.3
-
233
-
-
0025190711
-
Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-Xp22.3
-
Lewis RA, Nussbaum RL, Stambolian D. Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-Xp22.3. Ophthalmology 1990;97:110-121.
-
(1990)
Ophthalmology
, vol.97
, pp. 110-121
-
-
Lewis, R.A.1
Nussbaum, R.L.2
Stambolian, D.3
-
234
-
-
0025297599
-
Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients
-
Wallace MR, Marchuk DA, Andersen LB, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990;249:181-186.
-
(1990)
Science
, vol.249
, pp. 181-186
-
-
Wallace, M.R.1
Marchuk, D.A.2
Andersen, L.B.3
-
235
-
-
0025326726
-
A major segment of the neurofibromatosis type 1 gene: CDNA sequence, genomic structure, and point mutations
-
Cawthon RM, Weiss R, Xu G, et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990;62:193-201.
-
(1990)
Cell
, vol.62
, pp. 193-201
-
-
Cawthon, R.M.1
Weiss, R.2
Xu, G.3
-
236
-
-
0027294609
-
Lens opacities in neurofibromatosis 2: Further significant correlations
-
Bouzas EA, Freidlin V, Parry DM, et al. Lens opacities in neurofibromatosis 2: further significant correlations. Br J Ophthalmol 1993;77:354-357.
-
(1993)
Br J Ophthalmol
, vol.77
, pp. 354-357
-
-
Bouzas, E.A.1
Freidlin, V.2
Parry, D.M.3
-
237
-
-
0027245423
-
Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2
-
Rouleau GA, Merel P, Lutchman M, et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature 1993;363:515-521.
-
(1993)
Nature
, vol.363
, pp. 515-521
-
-
Rouleau, G.A.1
Merel, P.2
Lutchman, M.3
-
238
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa J, Hellsten E, Verkruyse LA, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995;376:584-588.
-
(1995)
Nature
, vol.376
, pp. 584-588
-
-
Vesa, J.1
Hellsten, E.2
Verkruyse, L.A.3
-
239
-
-
0030937327
-
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23
-
Sharp JD, Wheeler RB, Lake BD, et al. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Hum Mol Genet 1997;6:591-595.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 591-595
-
-
Sharp, J.D.1
Wheeler, R.B.2
Lake, B.D.3
-
240
-
-
0026341959
-
Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12
-
Callen DF, Baker E, Lane S, et al. Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12. Am J Hum Genet 1991;49:1372-1377.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 1372-1377
-
-
Callen, D.F.1
Baker, E.2
Lane, S.3
-
241
-
-
0030201075
-
Efficient construction of a physical map by fiber-fish of the CLN5 region: Refined assignment and long-range contig covering the critical region on 13q22
-
Klockars T, Savukoski M, Isosomppi J, et al. Efficient construction of a physical map by fiber-fish of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22. Genomics 1996;35:71-78.
-
(1996)
Genomics
, vol.35
, pp. 71-78
-
-
Klockars, T.1
Savukoski, M.2
Isosomppi, J.3
-
242
-
-
0028915818
-
The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13
-
Brais B, Xie Y-G, Sanson M, et al. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13. Hum Mol Genet 1995;4:429-434.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 429-434
-
-
Brais, B.1
Xie, Y.-G.2
Sanson, M.3
-
243
-
-
0031048466
-
Oculopharyngeal muscular dystrophy (OPMD) - Report and genetic studies of an Australian kindred
-
Teh BT, Sullivan A-A, Farnebo F, et al. Oculopharyngeal muscular dystrophy (OPMD) - report and genetic studies of an Australian kindred. Clin Genet 1997;51:52-55.
-
(1997)
Clin Genet
, vol.51
, pp. 52-55
-
-
Teh, B.T.1
Sullivan, A.-A.2
Farnebo, F.3
-
244
-
-
0029937085
-
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13
-
Gong Y, Vikkula M, Boon L, et al. Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet 1996;59:146-151.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 146-151
-
-
Gong, Y.1
Vikkula, M.2
Boon, L.3
-
245
-
-
0028856423
-
Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family
-
Nadal N, Rolland M-O, Tranchant C, et al. Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family. Hum Mol Genet 1995;4:1963-1966.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1963-1966
-
-
Nadal, N.1
Rolland, M.-O.2
Tranchant, C.3
-
246
-
-
0031003680
-
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a nonfunctionalPTS2 receptor
-
Motley AM, Hettema EH, Hogenhout EM, et al. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a nonfunctionalPTS2 receptor. Nat Genet 1997;15:377-380.
-
(1997)
Nat Genet
, vol.15
, pp. 377-380
-
-
Motley, A.M.1
Hettema, E.H.2
Hogenhout, E.M.3
-
247
-
-
0026000341
-
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
-
Ahmad NN, Ala-Kokko L, Knowlton RG, et al. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA 1991;88:6624-6627.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 6624-6627
-
-
Ahmad, N.N.1
Ala-Kokko, L.2
Knowlton, R.G.3
-
248
-
-
0027404775
-
A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon
-
Ahmad NN, McDonald-Mcginn DM, Zackai EH, et al. A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. Am J Hum Genet 1993;52:39-45.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 39-45
-
-
Ahmad, N.N.1
McDonald-Mcginn, D.M.2
Zackai, E.H.3
-
249
-
-
0028129183
-
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene
-
Brunner HG, Van Beersum SEC, Warman ML, et al. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Hum Mol Genet 1994;3:1561-1564.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1561-1564
-
-
Brunner, H.G.1
Van Beersum, S.E.C.2
Warman, M.L.3
-
250
-
-
0030879277
-
Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34
-
Van Slegtenhorst M, De Hoogt R, Hermans C, et al. Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34. Science 1997;277:805-808.
-
(1997)
Science
, vol.277
, pp. 805-808
-
-
Van Slegtenhorst, M.1
De Hoogt, R.2
Hermans, C.3
-
251
-
-
0030032163
-
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients
-
Wilson PJ, Ramesh V, Kristiansen A, et al. Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. Hum Mol Genet 1996;5:249-256.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 249-256
-
-
Wilson, P.J.1
Ramesh, V.2
Kristiansen, A.3
-
252
-
-
0027240519
-
Identification of the von Hippel-Lindau disease tumour suppressor gene
-
Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumour suppressor gene. Science 1993;260:1317-1320.
-
(1993)
Science
, vol.260
, pp. 1317-1320
-
-
Latif, F.1
Tory, K.2
Gnarra, J.3
-
253
-
-
0026602124
-
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
-
Tassabehji M, Read AP, Newton VE, et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992;355:635-636.
-
(1992)
Nature
, vol.355
, pp. 635-636
-
-
Tassabehji, M.1
Read, A.P.2
Newton, V.E.3
-
254
-
-
0026584439
-
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
-
Baldwin CT, Hoth CF, Amos JA, et al. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 1992;355:637-638.
-
(1992)
Nature
, vol.355
, pp. 637-638
-
-
Baldwin, C.T.1
Hoth, C.F.2
Amos, J.A.3
-
255
-
-
0027439075
-
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III), as well as Waardenburg syndrome Type I (WS-I)
-
Hoth CF, Milunsky A, Lipsky N, et al. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III), as well as Waardenburg syndrome Type I (WS-I). Am J Hum Genet 1993;52:455-462.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 455-462
-
-
Hoth, C.F.1
Milunsky, A.2
Lipsky, N.3
-
256
-
-
0027966022
-
A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1
-
Hughes AE, Newton VE, Liu XZ, Read AP. A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nat Genet 1994;7:509-512.
-
(1994)
Nat Genet
, vol.7
, pp. 509-512
-
-
Hughes, A.E.1
Newton, V.E.2
Liu, X.Z.3
Read, A.P.4
-
257
-
-
0027943189
-
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
-
Tassabehji M, Newton VE, Read AP. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 1994;8:251-255.
-
(1994)
Nat Genet
, vol.8
, pp. 251-255
-
-
Tassabehji, M.1
Newton, V.E.2
Read, A.P.3
-
258
-
-
0001220858
-
A locus for Waardenburg syndrome type II maps to chromosome 1p13.3-2.1
-
Lalwani AK, Baldwin CT, Morell R, et al. A locus for Waardenburg syndrome type II maps to chromosome 1p13.3-2.1 (Abstract). Am J Hum Genet 1994;55(Suppl.): A14.
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
-
-
Lalwani, A.K.1
Baldwin, C.T.2
Morell, R.3
-
259
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
-
Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993;5:11-16.
-
(1993)
Nat Genet
, vol.5
, pp. 11-16
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.3
-
260
-
-
0027376466
-
Cloning the Wilson disease gene
-
Chelly J, Monaco AP. Cloning the Wilson disease gene. Nat Genet 1993;5:37-318.
-
(1993)
Nat Genet
, vol.5
, pp. 37-318
-
-
Chelly, J.1
Monaco, A.P.2
-
261
-
-
0029820319
-
Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity
-
Collier DA, Barrett TG, Curtis D, et al. Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. Am J Hum Genet 1996;59:855-863.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 855-863
-
-
Collier, D.A.1
Barrett, T.G.2
Curtis, D.3
-
262
-
-
0027526665
-
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)
-
Rotig A, Cormier V, Chatelain P, et al. Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J Clin Invest 1993;91:1095-1098.
-
(1993)
J Clin Invest
, vol.91
, pp. 1095-1098
-
-
Rotig, A.1
Cormier, V.2
Chatelain, P.3
-
263
-
-
0024808930
-
Gene assignment of Zellweger syndrome to 7q11.23: Report of the second case associated with a pericentric inversion of chromosome 7
-
Naritomi K, Izumikawa Y, Ohshiro S, et al. Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7. Hum Genet 1989;84:79-80.
-
(1989)
Hum Genet
, vol.84
, pp. 79-80
-
-
Naritomi, K.1
Izumikawa, Y.2
Ohshiro, S.3
-
264
-
-
0028324958
-
Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization
-
Masuno M, Shimozawa N, Suzuki Y, et al. Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization. Genomics 1994;20:141-142.
-
(1994)
Genomics
, vol.20
, pp. 141-142
-
-
Masuno, M.1
Shimozawa, N.2
Suzuki, Y.3
-
265
-
-
0028817372
-
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders
-
Dodt G, Braverman N, Wong C, et al. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat Genet 1995;9:115-125.
-
(1995)
Nat Genet
, vol.9
, pp. 115-125
-
-
Dodt, G.1
Braverman, N.2
Wong, C.3
-
266
-
-
19244362560
-
Human peroxisome assembly factor-2 (PAF-2): A gene responsible for group C peroxisome biogenesis disorder in humans
-
Fukuda S, Shimozawa N, Suzuki Y, et al. Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. Am J Hum Genet 1996;59:1210-1220.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1210-1220
-
-
Fukuda, S.1
Shimozawa, N.2
Suzuki, Y.3
-
267
-
-
0030951104
-
Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders
-
Chang C-C, Lee W-H, Moser H, et al. Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. Nat Genet 1997;15:385-388.
-
(1997)
Nat Genet
, vol.15
, pp. 385-388
-
-
Chang, C.-C.1
Lee, W.-H.2
Moser, H.3
|