-
1
-
-
0026639778
-
Linkage analysis in X-linked congenital stationary night blindness
-
Erratum [1994] Genomics 22:255
-
Aldred MA, Dry KL, Sharp DM, Van Dorp DB, Brown J, Hardwick LJ, Lester DH, et al (1992) Linkage analysis in X-linked congenital stationary night blindness. Genomics 14:99-104 (Erratum [1994] Genomics 22:255)
-
(1992)
Genomics
, vol.14
, pp. 99-104
-
-
Aldred, M.A.1
Dry, K.L.2
Sharp, D.M.3
Van Dorp, D.B.4
Brown, J.5
Hardwick, L.J.6
Lester, D.H.7
-
2
-
-
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, Eriksson AW, de la Chapelle A (1991) Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis. Am J Hum Genet 48:31-38
-
(1991)
Am J Hum Genet
, vol.48
, pp. 31-38
-
-
Alitalo, T.1
Kruse, T.A.2
Forsius, H.3
Eriksson, A.W.4
De La Chapelle, A.5
-
3
-
-
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, Reedyk M, Craig IW, Fraser NJ, Pearce WG (1990) 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 84:406-408
-
(1990)
Hum Genet
, vol.84
, pp. 406-408
-
-
Bech-Hansen, N.T.1
Field, L.L.2
Schramm, A.M.3
Reedyk, M.4
Craig, I.W.5
Fraser, N.J.6
Pearce, W.G.7
-
4
-
-
17344372603
-
Localization of CSNB1 to region Xp11.3-Xp11.22 proximal to MAOA, B, Human Gene Mapping 11
-
Bech-Hansen NT, Marshall KJ, Moore BJ, Schramm AM, Field LL, Breakefield XO, Pearce WG (1991) Localization of CSNB1 to region Xp11.3-Xp11.22 proximal to MAOA, B, Human Gene Mapping 11. Cytogenet Cell Genet 58:2056
-
(1991)
Cytogenet Cell Genet
, vol.58
, pp. 2056
-
-
Bech-Hansen, N.T.1
Marshall, K.J.2
Moore, B.J.3
Schramm, A.M.4
Field, L.L.5
Breakefield, X.O.6
Pearce, W.G.7
-
5
-
-
0026511032
-
Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7
-
Bech-Hansen NT, Moore BJ, Pearce WG (1992) Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7. Genomics 12:409-411
-
(1992)
Genomics
, vol.12
, pp. 409-411
-
-
Bech-Hansen, N.T.1
Moore, B.J.2
Pearce, W.G.3
-
6
-
-
0027474273
-
Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: Demonstration of homozygosity
-
Bech-Hansen NT, Pearce WG (1993) Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity. Am J Hum Genet 52:71-77
-
(1993)
Am J Hum Genet
, vol.52
, pp. 71-77
-
-
Bech-Hansen, N.T.1
Pearce, W.G.2
-
7
-
-
85030336942
-
Localization of the gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23
-
in press
-
Bech-Hansen NT, Boycott NM, Gratton KJ, Ross DA, Pearce WG. Localization of the gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. Hum Genet (in press)
-
Hum Genet
-
-
Bech-Hansen, N.T.1
Boycott, N.M.2
Gratton, K.J.3
Ross, D.A.4
Pearce, W.G.5
-
8
-
-
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 (1994) Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB. Med Genet 31:580-582
-
(1994)
Med Genet
, vol.31
, pp. 580-582
-
-
Bergen, A.A.B.1
Kestelyn, P.2
Leys, M.3
Meire, F.4
-
9
-
-
0027138447
-
Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3
-
Bergen AAB, Meire F, ten Brink J, Schuurman EJM, van Ommen G-JB, Delleman JW (1993) Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3. Genomics 18:463-464
-
(1993)
Genomics
, vol.18
, pp. 463-464
-
-
Bergen, A.A.B.1
Meire, F.2
Ten Brink, J.3
Schuurman, E.J.M.4
Van Ommen, G.-J.B.5
Delleman, J.W.6
-
10
-
-
0029000026
-
Localization of a novel X-linked congenital stationary night blindness locus: Close linkage to the RP3 type retinitis pigmentosa gene region
-
Bergen AAB, ten Brink JB, Riemsiag F, Schuurman EJM, Tijmes N (1995) Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region. Hum Mol Genet 4: 931-935
-
(1995)
Hum Mol Genet
, vol.4
, pp. 931-935
-
-
Bergen, A.A.B.1
Ten Brink, J.B.2
Riemsiag, F.3
Schuurman, E.J.M.4
Tijmes, N.5
-
11
-
-
0028817495
-
Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB)
-
Berger W, van Duijnhoven G, Pinckers A, Smits A, Ropers H-H, Cremers F (1995) Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB). Hum Genet 95:67-70
-
(1995)
Hum Genet
, vol.95
, pp. 67-70
-
-
Berger, W.1
Van Duijnhoven, G.2
Pinckers, A.3
Smits, A.4
Ropers, H.-H.5
Cremers, F.6
-
12
-
-
0030001441
-
A 2-Megabase physical contig incorporating 43 DNA markers on the human X chromosome at p11.23-11.22 from ZNF21 to DXS255
-
Boycott KM, Halley GR, Schlessinger D, Bech-Hansen NT (1996) A 2-Megabase physical contig incorporating 43 DNA markers on the human X chromosome at p11.23-11.22 from ZNF21 to DXS255. Genomics 33:488-497
-
(1996)
Genomics
, vol.33
, pp. 488-497
-
-
Boycott, K.M.1
Halley, G.R.2
Schlessinger, D.3
Bech-Hansen, N.T.4
-
13
-
-
85030337682
-
Development of a YAC contig covering the minimal region of a CSNB1 locus in Xp11
-
Boycott KM, Halley G, Schlessinger D, Gratton KJ, Moore BJ, Bech-Hansen NT (1994) Development of a YAC contig covering the minimal region of a CSNB1 locus in Xp11. Am J Hum Genet Suppl 55:A255
-
(1994)
Am J Hum Genet Suppl
, vol.55
-
-
Boycott, K.M.1
Halley, G.2
Schlessinger, D.3
Gratton, K.J.4
Moore, B.J.5
Bech-Hansen, N.T.6
-
14
-
-
0030950027
-
Integration of 101 DNA markers across human Xp11 using a panel of somatic cell hybrids
-
Boycott KM, Moore BJ, Gratton KJ, Stoddart KL, Roland B, Bech-Hansen NT (1997) Integration of 101 DNA markers across human Xp11 using a panel of somatic cell hybrids. Cytogenet Cell Genet 76:223-228
-
(1997)
Cytogenet Cell Genet
, vol.76
, pp. 223-228
-
-
Boycott, K.M.1
Moore, B.J.2
Gratton, K.J.3
Stoddart, K.L.4
Roland, B.5
Bech-Hansen, N.T.6
-
15
-
-
0028365909
-
Integrated human genome-wide maps constructed using the CEPH reference panel
-
Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Duyk GM, Sheffield VC, Wang Z, et al (1994) Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet 6:391-393
-
(1994)
Nat Genet
, vol.6
, pp. 391-393
-
-
Buetow, K.H.1
Weber, J.L.2
Ludwigsen, S.3
Scherpbier-Heddema, T.4
Duyk, G.M.5
Sheffield, V.C.6
Wang, Z.7
-
16
-
-
0016134917
-
Congenital stationary night blindness
-
Carr RE (1974) Congenital stationary night blindness. Trans Am Ophthalmol Soc 72:449-487
-
(1974)
Trans Am Ophthalmol Soc
, vol.72
, pp. 449-487
-
-
Carr, R.E.1
-
17
-
-
0013959629
-
Rhodopsin and the electrical activity of the retina in congenital stationary night blindness
-
Carr RE, Ripps H, Siegel IM, Weale RE (1966) Rhodopsin and the electrical activity of the retina in congenital stationary night blindness. Invest Ophthalmol Vis Sci 5: 497-507
-
(1966)
Invest Ophthalmol Vis Sci
, vol.5
, pp. 497-507
-
-
Carr, R.E.1
Ripps, H.2
Siegel, I.M.3
Weale, R.E.4
-
18
-
-
0027507885
-
Disease gene mapping in isolated human populations: The example of Finland
-
de la Chapelle A (1993) Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 30:857-865
-
(1993)
J Med Genet
, vol.30
, pp. 857-865
-
-
De La Chapelle, A.1
-
19
-
-
0027248024
-
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
-
Dryja TP, Berson EL, Rao VR, Oprian DD (1993) Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet 4:280-283
-
(1993)
Nat Genet
, vol.4
, pp. 280-283
-
-
Dryja, T.P.1
Berson, E.L.2
Rao, V.R.3
Oprian, D.D.4
-
21
-
-
0028489055
-
Heterozygous missense mutation in the rod cGMP phosphodiesterase β-subunit gene in autosomal dominant stationary night blindness
-
Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T (1994) Heterozygous missense mutation in the rod cGMP phosphodiesterase β-subunit gene in autosomal dominant stationary night blindness. Nat Genet 7:64-67
-
(1994)
Nat Genet
, vol.7
, pp. 64-67
-
-
Gal, A.1
Orth, U.2
Baehr, W.3
Schwinger, E.4
Rosenberg, T.5
-
22
-
-
0024558243
-
Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp
-
Gal A, Schinzel A, Orth U, Fraser NA, Mollica F, Craig IW, Kruse T, et al (1989) Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. Hum Genet 81:315-318
-
(1989)
Hum Genet
, vol.81
, pp. 315-318
-
-
Gal, A.1
Schinzel, A.2
Orth, U.3
Fraser, N.A.4
Mollica, F.5
Craig, I.W.6
Kruse, T.7
-
23
-
-
0027482799
-
Genetic mapping of a cone and rod dysfunction (Åland Island eye disease) to the proximal short arm of the human X chromosome
-
Glass IA, Good P, Coleman MP, Fullwood P, Giles MG, Lindsay S, Nemeth AH, et al (1993) Genetic mapping of a cone and rod dysfunction (Åland Island eye disease) to the proximal short arm of the human X chromosome. J Med Genet 30:1044-1050
-
(1993)
J Med Genet
, vol.30
, pp. 1044-1050
-
-
Glass, I.A.1
Good, P.2
Coleman, M.P.3
Fullwood, P.4
Giles, M.G.5
Lindsay, S.6
Nemeth, A.H.7
-
24
-
-
0028231090
-
The 1993-1994 Généthon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Missasseau P, Marc S, et al (1994) The 1993-1994 Généthon human genetic linkage map. Nat Genet 7:246-339
-
(1994)
Nat Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Missasseau, P.6
Marc, S.7
-
25
-
-
0003165781
-
Congenital stationary night blindness: A critical review for molecular approaches
-
Wright AF, Jay B (eds) Harwood Academic, Chur, Switzerland
-
Héon E, Musarella MA (1994) Congenital stationary night blindness: a critical review for molecular approaches. In: Wright AF, Jay B (eds) Molecular genetics of inherited eye disorders. Harwood Academic, Chur, Switzerland, pp 277-301
-
(1994)
Molecular Genetics of Inherited Eye Disorders
, pp. 277-301
-
-
Héon, E.1
Musarella, M.A.2
-
26
-
-
4244154246
-
RPGR mutation analysis in patients with retinitis pigmentosa and congenital stationary night blindness
-
Herrmann K, Meindl A, Apfelstedt-Sylla E, Wissinger B, Ciccodicola A, Lorenz B, Wittwer B, et al (1996) RPGR mutation analysis in patients with retinitis pigmentosa and congenital stationary night blindness. Am J Hum Genet Suppl 59:A263
-
(1996)
Am J Hum Genet Suppl
, vol.59
-
-
Herrmann, K.1
Meindl, A.2
Apfelstedt-Sylla, E.3
Wissinger, B.4
Ciccodicola, A.5
Lorenz, B.6
Wittwer, B.7
-
27
-
-
0028126874
-
Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1)
-
Hong HK, Ferrell RE, Gorin MB (1994) Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1). Am J Hum Genet 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
-
28
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem B-S, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, et al (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245: 1073-1080
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.-S.1
Rommens, J.M.2
Buchanan, J.A.3
Markiewicz, D.4
Cox, T.K.5
Chakravarti, A.6
Buchwald, M.7
-
29
-
-
0023722496
-
X-linked congenital stationary night blindness: Review and report of a family with hyperopia
-
Khouri G, Mets MB, Smith VC, Wendell M, Pass AS (1988) X-linked congenital stationary night blindness: review and report of a family with hyperopia. Arch Ophthalmol 106: 1417-1422
-
(1988)
Arch Ophthalmol
, vol.106
, pp. 1417-1422
-
-
Khouri, G.1
Mets, M.B.2
Smith, V.C.3
Wendell, M.4
Pass, A.S.5
-
30
-
-
0343520072
-
Congenital stationary night blindness
-
Krill AE (ed) Harper & Row, New York
-
Krill AE (1977) Congenital stationary night blindness. In: Krill AE (ed) Krill's hereditary retinal and choroidal diseases. Vol 2. Harper & Row, New York, pp 391-420
-
(1977)
Krill's Hereditary Retinal and Choroidal Diseases
, vol.2
, pp. 391-420
-
-
Krill, A.E.1
-
31
-
-
17344369315
-
The locus for X-chromosomal congenital stationary night blindness is closely linked to TIMP in two families but not in a third one, Human Gene Mapping 11
-
Li Y, Bleeker-Wagemakers E, Arlich A, Orth U, Wright AF, Schinzel A, Gal A (1991) The locus for X-chromosomal congenital stationary night blindness is closely linked to TIMP in two families but not in a third one, Human Gene Mapping 11. Cytogenet Cell Genet 58:2075
-
(1991)
Cytogenet Cell Genet
, vol.58
, pp. 2075
-
-
Li, Y.1
Bleeker-Wagemakers, E.2
Arlich, A.3
Orth, U.4
Wright, A.F.5
Schinzel, A.6
Gal, A.7
-
32
-
-
0028343233
-
Automated construction of genetic linkage maps using an expert system (Multimap): A human genome linkage map
-
Matise TC, Perlin M, Chakravarti A (1994) Automated construction of genetic linkage maps using an expert system (Multimap): a human genome linkage map. Nat Genet 6: 384-390
-
(1994)
Nat Genet
, vol.6
, pp. 384-390
-
-
Matise, T.C.1
Perlin, M.2
Chakravarti, A.3
-
33
-
-
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, Manson F, Ciccodicola A, Edgar A, Carvalho MRS, et al (1996) A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 13:35-42
-
(1996)
Nat Genet
, vol.13
, pp. 35-42
-
-
Meindl, A.1
Dry, K.2
Herrmann, K.3
Manson, F.4
Ciccodicola, A.5
Edgar, A.6
Carvalho, M.R.S.7
-
34
-
-
0024669842
-
X-linked congenital stationary night blindness
-
Miyake Y (1989) X-linked congenital stationary night blindness. Arch Ophthalmol 107:635-636
-
(1989)
Arch Ophthalmol
, vol.107
, pp. 635-636
-
-
Miyake, Y.1
-
35
-
-
0028034828
-
Scotopic threshold response in complete and incomplete types of congenital stationary night blindness
-
Miyake Y, Horiguchi M, Terasaki H, Kondo M (1994) Scotopic threshold response in complete and incomplete types of congenital stationary night blindness. Invest Ophthalmol Vis Sci 35:3770-3775
-
(1994)
Invest Ophthalmol Vis Sci
, vol.35
, pp. 3770-3775
-
-
Miyake, Y.1
Horiguchi, M.2
Terasaki, H.3
Kondo, M.4
-
36
-
-
0023146464
-
On-and off-responses in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness
-
Miyake Y, Yagasaki K, Horiguchi M, Kawase Y (1987) On-and off-responses in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness. Jpn J Ophthalmol 31:81-87
-
(1987)
Jpn J Ophthalmol
, vol.31
, pp. 81-87
-
-
Miyake, Y.1
Yagasaki, K.2
Horiguchi, M.3
Kawase, Y.4
-
37
-
-
0022528965
-
Congenital stationary night blindness with negative electroretinogram
-
Miyake Y, Yagasaki K, Horiguchi M, Kawase Y, Kanda T (1986) Congenital stationary night blindness with negative electroretinogram. Arch Ophthalmol 104:1013-1020
-
(1986)
Arch Ophthalmol
, vol.104
, pp. 1013-1020
-
-
Miyake, Y.1
Yagasaki, K.2
Horiguchi, M.3
Kawase, Y.4
Kanda, T.5
-
38
-
-
17344364837
-
Assignment of the gene for incomplete congenital stationary night blindness (CSBN2) to proximal Xp
-
Musarella MA, Kirshgessner C, Trofatter J, Miyake Y, DeGennaro L (1992) Assignment of the gene for incomplete congenital stationary night blindness (CSBN2) to proximal Xp. Invest Ophthalmol Vis Sci 33:792
-
(1992)
Invest Ophthalmol Vis Sci
, vol.33
, pp. 792
-
-
Musarella, M.A.1
Kirshgessner, C.2
Trofatter, J.3
Miyake, Y.4
DeGennaro, L.5
-
39
-
-
0024756571
-
Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3
-
Musarella MA, Weleber RG, Murphey WH, Young RSL, Anson-Cartwright L, Mets M, Kraft SP, et al (1989) Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. Genomics 5:727-737
-
(1989)
Genomics
, vol.5
, pp. 727-737
-
-
Musarella, M.A.1
Weleber, R.G.2
Murphey, W.H.3
Young, R.S.L.4
Anson-Cartwright, L.5
Mets, M.6
Kraft, S.P.7
-
40
-
-
0028868393
-
Report of the Sixth International Workshop on X Chromosome Mapping 1995
-
Nelson DL, Ballabio A, Cremers F, Monaco AP, Schlessinger D (1995) Report of the Sixth International Workshop on X Chromosome Mapping 1995. Cytogenet Cell Genet 71: 307-342
-
(1995)
Cytogenet Cell Genet
, vol.71
, pp. 307-342
-
-
Nelson, D.L.1
Ballabio, A.2
Cremers, F.3
Monaco, A.P.4
Schlessinger, D.5
-
41
-
-
0026774858
-
A comprehensive genetic linkage map of the human genome
-
NIH/CEPH Collaborative Mapping Group (1992) A comprehensive genetic linkage map of the human genome. Science 258:67-86
-
(1992)
Science
, vol.258
, pp. 67-86
-
-
-
42
-
-
0025274526
-
Variable expressivity in X-linked congenital stationary night blindness
-
Pearce WG, Reedyk M, Coupland SG (1990) Variable expressivity in X-linked congenital stationary night blindness. Can J Ophthalmol 25:3-10
-
(1990)
Can J Ophthalmol
, vol.25
, pp. 3-10
-
-
Pearce, W.G.1
Reedyk, M.2
Coupland, S.G.3
-
43
-
-
0028125886
-
Rhodopsin mutation G90D and a molecular mechanism for congenital stationary night blindness
-
Rao VR, Cohen GB, Oprian DD (1994) Rhodopsin mutation G90D and a molecular mechanism for congenital stationary night blindness. Nature 367:639-642
-
(1994)
Nature
, vol.367
, pp. 639-642
-
-
Rao, V.R.1
Cohen, G.B.2
Oprian, D.D.3
-
44
-
-
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, Pinkers AJLG, Bleeker-Wagemakers LM, Bergen AAB, Post J, et al (1996) Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet 5:1035-1041
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1035-1041
-
-
Roepman, R.1
Van Duijnhoven, G.2
Rosenberg, T.3
Pinkers, A.J.L.G.4
Bleeker-Wagemakers, L.M.5
Bergen, A.A.B.6
Post, J.7
-
45
-
-
0026718255
-
Affected females in X-linked congenital stationary night blindness
-
Ruttum MS, Lewandowski MF, Bateman JB (1992) Affected females in X-linked congenital stationary night blindness. Ophthalmology 99:747-752
-
(1992)
Ophthalmology
, vol.99
, pp. 747-752
-
-
Ruttum, M.S.1
Lewandowski, M.F.2
Bateman, J.B.3
-
46
-
-
0029849047
-
Long range map of 3.5 Mb region in Xp11.23-22 with a sequence ready map from a 1.1 Mb gene-rich interval
-
Schindelhauer D, Hellebrand H, Grimm L, Bader I, Meitinger T, Wehnert M, Ross M, et al (1996) Long range map of 3.5 Mb region in Xp11.23-22 with a sequence ready map from a 1.1 Mb gene-rich interval. Genome Res 6:1056-1069
-
(1996)
Genome Res
, vol.6
, pp. 1056-1069
-
-
Schindelhauer, D.1
Hellebrand, H.2
Grimm, L.3
Bader, I.4
Meitinger, T.5
Wehnert, M.6
Ross, M.7
-
47
-
-
0025940605
-
Aland eye disease: Linkage data
-
Schwartz M, Rosenberg T (1991) Aland eye disease: linkage data. Genomics 10:327-332
-
(1991)
Genomics
, vol.10
, pp. 327-332
-
-
Schwartz, M.1
Rosenberg, T.2
-
48
-
-
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, Van Maldergem L, Wolf ML, Saha BK, Bhattacharya SS, et al (1996) 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 6: 1093-1102
-
(1996)
Genome Res
, vol.6
, pp. 1093-1102
-
-
Thiselton, D.L.1
Hampson, R.M.2
Nayudu, M.3
Van Maldergem, L.4
Wolf, M.L.5
Saha, B.K.6
Bhattacharya, S.S.7
-
49
-
-
0029053553
-
The electoretinographic diagnosis of the incomplete form of congenital stationary night blindness
-
Tremblay F, Laroche RG, De Becker I (1994) The electoretinographic diagnosis of the incomplete form of congenital stationary night blindness. Vision Res 35:2383-2395
-
(1994)
Vision Res
, vol.35
, pp. 2383-2395
-
-
Tremblay, F.1
Laroche, R.G.2
De Becker, I.3
-
50
-
-
0000197075
-
Human DNA polymorphisms based on length variations in simple-sequence tandem repeats
-
Davies KE, Tilgham SM (eds) Cold Spring Harbor Laboratory, New York
-
Weber JL (1990) Human DNA polymorphisms based on length variations in simple-sequence tandem repeats. In: Davies KE, Tilgham SM (eds) Genetic and physical mapping. Vol 1. Cold Spring Harbor Laboratory, New York, pp 159-181
-
(1990)
Genetic and Physical Mapping
, vol.1
, pp. 159-181
-
-
Weber, J.L.1
-
51
-
-
0024405276
-
Åland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21
-
Weleber RG, Pillers D-AM, Powell BR, Hanna CE, Magenis RE, Buist NRM (1989) Åland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Arch Ophthalmol 107:1170-1179
-
(1989)
Arch Ophthalmol
, vol.107
, pp. 1170-1179
-
-
Weleber, R.G.1
Pillers, D.-A.M.2
Powell, B.R.3
Hanna, C.E.4
Magenis, R.E.5
Buist, N.R.M.6
-
52
-
-
0025813482
-
Low-frequency component of the photopic ERG in patients with X-linked congenital stationary night blindness
-
Young, RSL (1991) Low-frequency component of the photopic ERG in patients with X-linked congenital stationary night blindness. Clin Vision Sci 6:309-315
-
(1991)
Clin Vision Sci
, vol.6
, pp. 309-315
-
-
Young, R.S.L.1
|