-
1
-
-
0029836678
-
A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region
-
Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, Safarazi MA (1996) A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region. Hum Mol Genet 5:1199-1203
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1199-1203
-
-
Akarsu, A.N.1
Turacli, M.E.2
Aktan, S.G.3
Barsoum-Homsy, M.4
Chevrette, L.5
Sayli, B.S.6
Safarazi, M.A.7
-
2
-
-
0023732713
-
A computer program to make linkage analysis with LIPED and LINKAGE easier to peform and less prone to input errors
-
Attwood J, Bryant S (1988) A computer program to make linkage analysis with LIPED and LINKAGE easier to peform and less prone to input errors. Ann Hum Genet 52: 259
-
(1988)
Ann Hum Genet
, vol.52
, pp. 259
-
-
Attwood, J.1
Bryant, S.2
-
3
-
-
0009252517
-
Erbliches jugendliches Glaukom
-
Berg F (1932) Erbliches jugendliches Glaukom. Acta Ophthal 10:568-587
-
(1932)
Acta Ophthal
, vol.10
, pp. 568-587
-
-
Berg, F.1
-
4
-
-
0020612595
-
Autosomal dominant iridogoniodysgenesis with somatic anomalies: Four-generation family with Rieger's syndrome
-
Chisholm IA, Chudley AE (1983) Autosomal dominant iridogoniodysgenesis with somatic anomalies: four-generation family with Rieger's syndrome. Br J Ophthalmol 67:529-534
-
(1983)
Br J Ophthalmol
, vol.67
, pp. 529-534
-
-
Chisholm, I.A.1
Chudley, A.E.2
-
6
-
-
0000574299
-
Hereditary juvenile glaucoma simplex
-
Courtney RH, Hill E (1931) Hereditary juvenile glaucoma simplex. JAMA 97:1602-1609
-
(1931)
JAMA
, vol.97
, pp. 1602-1609
-
-
Courtney, R.H.1
Hill, E.2
-
7
-
-
0030298238
-
Chromosomal mapping of the gene (PI9) encoding the intracellular serpin proteainase inhibitor 9 to 6p25 by fluorescence in situ hybridisation
-
Eyre HJ, Sun J, Sutherland GR, Bird P (1996) Chromosomal mapping of the gene (PI9) encoding the intracellular serpin proteainase inhibitor 9 to 6p25 by fluorescence in situ hybridisation. Genomics 37:406-408
-
(1996)
Genomics
, vol.37
, pp. 406-408
-
-
Eyre, H.J.1
Sun, J.2
Sutherland, G.R.3
Bird, P.4
-
8
-
-
0342929463
-
A gene producing various defects of the anterior segment of the eye
-
Falls HF (1949) A gene producing various defects of the anterior segment of the eye. Am J Ophthalmol 32:41-52
-
(1949)
Am J Ophthalmol
, vol.32
, pp. 41-52
-
-
Falls, H.F.1
-
10
-
-
16944366064
-
Congenital glaucoma, juvenile glaucoma, and chronic simple glaucoma, all in one family
-
Gillespie FD (1963) Congenital glaucoma, juvenile glaucoma, and chronic simple glaucoma, all in one family. Va Med Mon 90:556-561
-
(1963)
Va Med Mon
, vol.90
, pp. 556-561
-
-
Gillespie, F.D.1
-
12
-
-
0028308664
-
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
-
Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, Punnett HH, et al (1994) Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet 6:168-173
-
(1994)
Nat Genet
, vol.6
, pp. 168-173
-
-
Hanson, I.M.1
Fletcher, J.M.2
Jordan, T.3
Brown, A.4
Taylor, D.5
Adams, R.J.6
Punnett, H.H.7
-
13
-
-
0029091048
-
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)
-
Heon E, Sheth BP, Klaenak JW, Sunden SLF, Streb LM, Taylor CM, Alward WLM, et al (1995) Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet 4:1435-1439
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1435-1439
-
-
Heon, E.1
Sheth, B.P.2
Klaenak, J.W.3
Sunden, S.L.F.4
Streb, L.M.5
Taylor, C.M.6
Alward, W.L.M.7
-
14
-
-
0020043627
-
Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations
-
Hittner HM, Kretzer FL, Antoszyk JH, Ferrell RE, Mehta RS (1982) Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. Am J Ophthalmol 93:57-70
-
(1982)
Am J Ophthalmol
, vol.93
, pp. 57-70
-
-
Hittner, H.M.1
Kretzer, F.L.2
Antoszyk, J.H.3
Ferrell, R.E.4
Mehta, R.S.5
-
15
-
-
0018855662
-
Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria
-
Hittner HM, Riccardi VM, Ferrell RE, Borda RR, Justice T (1980) Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria. Am J Ophthalmol 89:531-539
-
(1980)
Am J Ophthalmol
, vol.89
, pp. 531-539
-
-
Hittner, H.M.1
Riccardi, V.M.2
Ferrell, R.E.3
Borda, R.R.4
Justice, T.5
-
16
-
-
0015370637
-
Dominant goniodysgenesis with late congenital glaucoma: A re-examination of Berg's pedigree
-
Jerndal T (1972) Dominant goniodysgenesis with late congenital glaucoma: a re-examination of Berg's pedigree. Am J Ophthalmol 74:28-32
-
(1972)
Am J Ophthalmol
, vol.74
, pp. 28-32
-
-
Jerndal, T.1
-
17
-
-
0020518062
-
Congenital glaucoma due to dominant goniodysgenesis: A new concept of the heredity of glaucoma
-
_ (1983) Congenital glaucoma due to dominant goniodysgenesis: a new concept of the heredity of glaucoma. Am J Hum Genet 35:645-651
-
(1983)
Am J Hum Genet
, vol.35
, pp. 645-651
-
-
-
18
-
-
0018257937
-
The Rieger syndrome
-
Jorgenson RJ, Levin LS, Cross HE, Yoder F, Kelly TE (1978) The Rieger syndrome. Am J Med Genet 2:307-318
-
(1978)
Am J Med Genet
, vol.2
, pp. 307-318
-
-
Jorgenson, R.J.1
Levin, L.S.2
Cross, H.E.3
Yoder, F.4
Kelly, T.E.5
-
20
-
-
0029572447
-
Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)
-
Larsson C, Hellqvist M, Pierrou S, White I, Enerback S, Carlsson P (1995) Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12). Genomics 30: 464-469
-
(1995)
Genomics
, vol.30
, pp. 464-469
-
-
Larsson, C.1
Hellqvist, M.2
Pierrou, S.3
White, I.4
Enerback, S.5
Carlsson, P.6
-
21
-
-
0021344005
-
Easy calculations of lod scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
22
-
-
0016263210
-
Familial glaucoma in nine generations of a South Hampshire family
-
Martin JP, Zorab EC (1974) Familial glaucoma in nine generations of a South Hampshire family. Br J Ophthalmol 58: 536-542
-
(1974)
Br J Ophthalmol
, vol.58
, pp. 536-542
-
-
Martin, J.P.1
Zorab, E.C.2
-
24
-
-
0029807866
-
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25
-
Mears AJ, Mirzayans F, Gould DB, Pearce WG, Walter MA (1996) Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. Am J Hum Genet 59:1321-1327
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1321-1327
-
-
Mears, A.J.1
Mirzayans, F.2
Gould, D.B.3
Pearce, W.G.4
Walter, M.A.5
-
25
-
-
0043048571
-
Sequential tests for the detection of linkage
-
Morton NE (1955) Sequential tests for the detection of linkage. Am J Hum Genet 7:277-318
-
(1955)
Am J Hum Genet
, vol.7
, pp. 277-318
-
-
Morton, N.E.1
-
26
-
-
0026920886
-
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4
-
Murray JC, Bennett SR, Kwitek AE, Small KW, Schinzel A, Alward WLM, Weber JL, et al (1992) Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet 2:46-49
-
(1992)
Nat Genet
, vol.2
, pp. 46-49
-
-
Murray, J.C.1
Bennett, S.R.2
Kwitek, A.E.3
Small, K.W.4
Schinzel, A.5
Alward, W.L.M.6
Weber, J.L.7
-
27
-
-
0021240429
-
Aniridia: A review
-
Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L (1984) Aniridia: a review. Surv Ophthalmol 28:621-642
-
(1984)
Surv Ophthalmol
, vol.28
, pp. 621-642
-
-
Nelson, L.B.1
Spaeth, G.L.2
Nowinski, T.S.3
Margo, C.E.4
Jackson, L.5
-
28
-
-
0021227126
-
A case of partial monosomy 21q22.2 associated with Rieger's syndrome
-
Nielsen F, Tranebjaerg L (1984) A case of partial monosomy 21q22.2 associated with Rieger's syndrome. J Med Genet 21:218-221
-
(1984)
J Med Genet
, vol.21
, pp. 218-221
-
-
Nielsen, F.1
Tranebjaerg, L.2
-
29
-
-
0344085295
-
Fine mapping of the chromosomal breakpoints in an individual with congenital glaucoma and a 6:13 translocation
-
Nishimura DY, Patil S, Alward WLM, Stone EM, Sheffield VC (1995) Fine mapping of the chromosomal breakpoints in an individual with congenital glaucoma and a 6:13 translocation. Invest Ophthalmol Vis Sci 36:2574
-
(1995)
Invest Ophthalmol Vis Sci
, vol.36
, pp. 2574
-
-
Nishimura, D.Y.1
Patil, S.2
Alward, W.L.M.3
Stone, E.M.4
Sheffield, V.C.5
-
30
-
-
0025774547
-
Partial deletion of chromosome 6p: Delineation of the syndrome
-
Palmer GC, Bader P, Slovak ML, Comings DE, Pettenati MJ (1991) Partial deletion of chromosome 6p: delineation of the syndrome. Am J Med Genet 39:155-160
-
(1991)
Am J Med Genet
, vol.39
, pp. 155-160
-
-
Palmer, G.C.1
Bader, P.2
Slovak, M.L.3
Comings, D.E.4
Pettenati, M.J.5
-
31
-
-
0029762015
-
A second locus for Rieger syndrome maps to chromosome 13q14
-
Phillips JC, Del Bono EA, Haines JL, Pralea AM, Cohen JS, Greif LJ, Wiggs JL (1996) A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet 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
Pralea, A.M.4
Cohen, J.S.5
Greif, L.J.6
Wiggs, J.L.7
-
32
-
-
0031026621
-
Molecular genetics of the glaucomas: Mapping of the first five "GLC" loci
-
Raymond V (1997) Molecular genetics of the glaucomas: mapping of the first five "GLC" loci. Am J Hum Genet 60:272-277
-
(1997)
Am J Hum Genet
, vol.60
, pp. 272-277
-
-
Raymond, V.1
-
33
-
-
34347144543
-
Beiträge zur Kenntnis seltener Missbildungen der Iris. II. Über Hypoplasie des Irisvorderblattes mit Verlagerung und Entrundung der Pupille
-
Rieger H (1935) Beiträge zur Kenntnis seltener Missbildungen der Iris. II. Über Hypoplasie des Irisvorderblattes mit Verlagerung und Entrundung der Pupille. Graefes Arch Clin Exp Ophthalmol 133:602-635
-
(1935)
Graefes Arch Clin Exp Ophthalmol
, vol.133
, pp. 602-635
-
-
Rieger, H.1
-
34
-
-
0028880039
-
Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity
-
Safarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, et al (1995) Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 30:171-177
-
(1995)
Genomics
, vol.30
, pp. 171-177
-
-
Safarazi, M.1
Akarsu, A.N.2
Hossain, A.3
Turacli, M.E.4
Aktan, S.G.5
Barsoum-Homsy, M.6
Chevrette, L.7
-
35
-
-
10544233785
-
Cloning and characterisation of a novel bicoid-related homeobox transcription factor, RIEG, involved in Rieger syndrome
-
Semina EV, Reiter R, Leysens NJ, Alward WLM, Small KW, Datson NA, Siegel-Bartelt J, et al (1996) Cloning and characterisation of a novel bicoid-related homeobox transcription factor, RIEG, involved in Rieger syndrome. Nat Genet 14:392-399
-
(1996)
Nat Genet
, vol.14
, pp. 392-399
-
-
Semina, E.V.1
Reiter, R.2
Leysens, N.J.3
Alward, W.L.M.4
Small, K.W.5
Datson, N.A.6
Siegel-Bartelt, J.7
-
36
-
-
0027173920
-
Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31
-
Sheffield VC, Stone EM, Alward WLM, Drack AV, Johnson AT, Streb LM, Nichols BE (1993) Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet 4:47-50
-
(1993)
Nat Genet
, vol.4
, pp. 47-50
-
-
Sheffield, V.C.1
Stone, E.M.2
Alward, W.L.M.3
Drack, A.V.4
Johnson, A.T.5
Streb, L.M.6
Nichols, B.E.7
-
37
-
-
0030586892
-
Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2 cen-q13 region
-
Stoilova D, Child A, Trifan OC, Pitts Crick R, Coakes RL, Safarazi M (1996) Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2 cen-q13 region. Genomics 36:142-150
-
(1996)
Genomics
, vol.36
, pp. 142-150
-
-
Stoilova, D.1
Child, A.2
Trifan, O.C.3
Pitts Crick, R.4
Coakes, R.L.5
Safarazi, M.6
-
38
-
-
0001555212
-
Hereditary primary glaucoma
-
Stokes WH (1940) Hereditary primary glaucoma. Arch Ophthalmol 24:885-909
-
(1940)
Arch Ophthalmol
, vol.24
, pp. 885-909
-
-
Stokes, W.H.1
-
39
-
-
0028895206
-
Linkage of congenital hereditary endothelial dystrophy to chromosome 20
-
Toma NMG, Ebenezer MD, Inglehearn CF, Plant C, Ficker LA, Bhattacharya SS (1995) Linkage of congenital hereditary endothelial dystrophy to chromosome 20. Hum Mol Genet 4:2393-2395
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2393-2395
-
-
Toma, N.M.G.1
Ebenezer, M.D.2
Inglehearn, C.F.3
Plant, C.4
Ficker, L.A.5
Bhattacharya, S.S.6
-
40
-
-
0026315044
-
Positional cloning and characterisation of a paired box and homeobox-containing gene from the aniridia region
-
Ton CCT, Hirvonen H, Miwa H, Weil MM, Monaghan P, Jordan T, van Heyningen V, et al (1991) Positional cloning and characterisation of a paired box and homeobox-containing gene from the aniridia region. Cell 67:1059-1074
-
(1991)
Cell
, vol.67
, pp. 1059-1074
-
-
Ton, C.C.T.1
Hirvonen, H.2
Miwa, H.3
Weil, M.M.4
Monaghan, P.5
Jordan, T.6
Van Heyningen, V.7
-
41
-
-
0025029381
-
The forkhead domain: A novel DNA binding motif of the eukaryotic transcription factors
-
Wiegel D, Jaekle H (1990) The forkhead domain: a novel DNA binding motif of the eukaryotic transcription factors. Cell 63:455-456
-
(1990)
Cell
, vol.63
, pp. 455-456
-
-
Wiegel, D.1
Jaekle, H.2
-
42
-
-
0024973841
-
The homeotic gene forkhead encodes a nuclear protein and is expressed in the terminal regions of the Drosophila embryo
-
Wiegel D, Jurgens G, Kuttner F, Siefert E, Jaekle H (1989) The homeotic gene forkhead encodes a nuclear protein and is expressed in the terminal regions of the Drosophila embryo. Cell 57:645-658
-
(1989)
Cell
, vol.57
, pp. 645-658
-
-
Wiegel, D.1
Jurgens, G.2
Kuttner, F.3
Siefert, E.4
Jaekle, H.5
-
43
-
-
0031036668
-
Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q
-
Wirtz MK, Samples JR, Kramer PL, Rust K, Topinka JR, Yount J, Koler RD, et al (1997) Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. Am J Hum Genet 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
Rust, K.4
Topinka, J.R.5
Yount, J.6
Koler, R.D.7
-
44
-
-
85030307473
-
Glaucoma simplex familialis
-
Zorab A (1932) Glaucoma simplex familialis. Trans Ophth Soc UK 52:446-460
-
(1932)
Trans Ophth Soc UK
, vol.52
, pp. 446-460
-
-
Zorab, A.1
|