-
1
-
-
0028123295
-
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
-
Al-Maghtheh M, Inglehearn CF, Kean TJ, Evans KE, Moore AT, Jay M, Bird AC, et al (1994) Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet 3: 351-354
-
(1994)
Hum Mol Genet
, vol.3
, pp. 351-354
-
-
Al-Maghtheh, M.1
Inglehearn, C.F.2
Kean, T.J.3
Evans, K.E.4
Moore, A.T.5
Jay, M.6
Bird, A.C.7
-
2
-
-
0028997311
-
Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1 cM 15q15.1-q15.3 interval
-
Allamand V, Broux O, Richard I, Fouderousse F, Chiannilkulchai N, Bourg N, Brenguier L, et al (1995) Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1 cM 15q15.1-q15.3 interval. Am J Hum Genet 56: 1417-1430
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1417-1430
-
-
Allamand, V.1
Broux, O.2
Richard, I.3
Fouderousse, F.4
Chiannilkulchai, N.5
Bourg, N.6
Brenguier, L.7
-
3
-
-
0028839778
-
No evidence of genetic heterogeneity in dominant optic atrophy
-
Bonneau D, Souied E, Gerber S, Rozet J-M, D'Haens E, Journel H, Plessis G, et al (1995) No evidence of genetic heterogeneity in dominant optic atrophy. J Med Genet 32: 951-953
-
(1995)
J Med Genet
, vol.32
, pp. 951-953
-
-
Bonneau, D.1
Souied, E.2
Gerber, S.3
Rozet, J.-M.4
D'Haens, E.5
Journel, H.6
Plessis, G.7
-
4
-
-
0031033333
-
Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)
-
Brown J, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM (1997) Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch Ophthalmol 115: 95-99
-
(1997)
Arch Ophthalmol
, vol.115
, pp. 95-99
-
-
Brown, J.1
Fingert, J.H.2
Taylor, C.M.3
Lake, M.4
Sheffield, V.C.5
Stone, E.M.6
-
5
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380: 152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
-
6
-
-
0028264428
-
Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis
-
Eiberg H, Kjer B, Kjer P, Rosenberg T (1994) Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum Mol Genet 3: 977-980
-
(1994)
Hum Mol Genet
, vol.3
, pp. 977-980
-
-
Eiberg, H.1
Kjer, B.2
Kjer, P.3
Rosenberg, T.4
-
7
-
-
0025870421
-
Rod thresholds in dominantly inherited juvenile optic atrophy
-
Elenius V (1991) Rod thresholds in dominantly inherited juvenile optic atrophy. Ophthalmologica 202: 208-212
-
(1991)
Ophthalmologica
, vol.202
, pp. 208-212
-
-
Elenius, V.1
-
8
-
-
0027447960
-
Visual prognosis in autosomal dominant optic atrophy (Kjer type)
-
Eliott MD (1993) Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol 115: 360-367
-
(1993)
Am J Ophthalmol
, vol.115
, pp. 360-367
-
-
Eliott, M.D.1
-
9
-
-
0029036747
-
Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Askenazi Jews
-
Glaser B, Chiu KC, Anker R, Nestorowicz A, Cox NJ, Landau H, Kaiser N, et al (1995) Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Askenazi Jews. Hum Mol Genet 4: 879-886
-
(1995)
Hum Mol Genet
, vol.4
, pp. 879-886
-
-
Glaser, B.1
Chiu, K.C.2
Anker, R.3
Nestorowicz, A.4
Cox, N.J.5
Landau, H.6
Kaiser, N.7
-
10
-
-
0028231090
-
The 1993-94 Genethon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millaseau P, Marc S, et al (1994) The 1993-94 Genethon 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
Millaseau, P.6
Marc, S.7
-
11
-
-
0027309259
-
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p
-
Inglehearn CF (1993) A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet 4: 51-53
-
(1993)
Nat Genet
, vol.4
, pp. 51-53
-
-
Inglehearn, C.F.1
-
13
-
-
0031012480
-
Dominant optic atrophy, Kjer type: Linkage analysis and clinical features in a large British pedigree
-
Johnston RL, Burdon MA, Spalton DJ, Bryant SP, Behnam JT, Seller MJ (1997) Dominant optic atrophy, Kjer type: linkage analysis and clinical features in a large British pedigree. Arch Ophthalmol 115: 100-103
-
(1997)
Arch Ophthalmol
, vol.115
, pp. 100-103
-
-
Johnston, R.L.1
Burdon, M.A.2
Spalton, D.J.3
Bryant, S.P.4
Behnam, J.T.5
Seller, M.J.6
-
14
-
-
0031060713
-
Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig
-
Jonasdottir A, Eiberg H, Kjer B, Kjer P, Rosenberg T (1997) Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig. Hum Genet 99: 115-120
-
(1997)
Hum Genet
, vol.99
, pp. 115-120
-
-
Jonasdottir, A.1
Eiberg, H.2
Kjer, B.3
Kjer, P.4
Rosenberg, T.5
-
15
-
-
0028894185
-
Invited editorial: Linkage disequilibrium as a gene mapping tool
-
Jorde LB (1995) Invited editorial: linkage disequilibrium as a gene mapping tool. Am J Hum Genet 56: 11-14
-
(1995)
Am J Hum Genet
, vol.56
, pp. 11-14
-
-
Jorde, L.B.1
-
16
-
-
0028266123
-
Linkage disequilibrium predicts physical distance in the adenomatous polyposis coli region
-
Jorde LB, Watkins WS, Carlson M, Groden J, Albertsen H, Thliveris A, Leppert M (1994) Linkage disequilibrium predicts physical distance in the adenomatous polyposis coli region. Am J Hum Genet 54: 884-898
-
(1994)
Am J Hum Genet
, vol.54
, pp. 884-898
-
-
Jorde, L.B.1
Watkins, W.S.2
Carlson, M.3
Groden, J.4
Albertsen, H.5
Thliveris, A.6
Leppert, M.7
-
17
-
-
0028834034
-
Likelihood methods for locating disease genes in non-equilibrium populations
-
Kaplan NL, Hill WG, Weir BS (1995) Likelihood methods for locating disease genes in non-equilibrium populations. Am J Hum Genet 56: 18-32
-
(1995)
Am J Hum Genet
, vol.56
, pp. 18-32
-
-
Kaplan, N.L.1
Hill, W.G.2
Weir, B.S.3
-
19
-
-
0029924084
-
Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects
-
Kjer B, Eiberg H, Kjer P, Rosenberg T (1996) Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. Acta Ophthalmol Scand 74: 3-7
-
(1996)
Acta Ophthalmol Scand
, vol.74
, pp. 3-7
-
-
Kjer, B.1
Eiberg, H.2
Kjer, P.3
Rosenberg, T.4
-
20
-
-
84924064715
-
Infantile optic atrophy with dominant mode of inheritance: A clinical and genetic study of 19 Danish families
-
Kjer P (1959) Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol 37 (Suppl 54): 1-146
-
(1959)
Acta Ophthalmol
, vol.37
, Issue.SUPPL. 54
, pp. 1-146
-
-
Kjer, P.1
-
21
-
-
0020691778
-
Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy
-
Kjer P (1982) Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol 61: 300-312
-
(1982)
Acta Ophthalmol
, vol.61
, pp. 300-312
-
-
Kjer, P.1
-
22
-
-
0018397542
-
Dominant optic atrophy. the clinical profile
-
Kline LB, Glaser JS (1979) Dominant optic atrophy. The clinical profile. Arch Ophthalmol 97: 1680-1686
-
(1979)
Arch Ophthalmol
, vol.97
, pp. 1680-1686
-
-
Kline, L.B.1
Glaser, J.S.2
-
23
-
-
0011748928
-
Hereditary optic atrophy with dominant transmission: Three Danish families
-
Lodberg CV, Lund A (1970) Hereditary optic atrophy with dominant transmission: three Danish families. Acta Ophthalmol 28: 437-468
-
(1970)
Acta Ophthalmol
, vol.28
, pp. 437-468
-
-
Lodberg, C.V.1
Lund, A.2
-
24
-
-
0029100850
-
Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 centi-Morgans in one Cuban family with autosomal dominant optic atrophy type Kjer
-
Lunkes A, Hartung U, Magarino C (1995) Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 centi-Morgans in one Cuban family with autosomal dominant optic atrophy type Kjer. Am J Hum Genet 57: 968-970
-
(1995)
Am J Hum Genet
, vol.57
, pp. 968-970
-
-
Lunkes, A.1
Hartung, U.2
Magarino, C.3
-
26
-
-
0027292096
-
Haplotype analysis to determine the position of a mutation among closely linked DNA markers
-
Ramsay M, Williamson R, Estivilli X, Wainwright BJ, Ho M-F, Halford S, Kere J (1993) Haplotype analysis to determine the position of a mutation among closely linked DNA markers. Hum Mol Genet 7: 1007-1014
-
(1993)
Hum Mol Genet
, vol.7
, pp. 1007-1014
-
-
Ramsay, M.1
Williamson, R.2
Estivilli, X.3
Wainwright, B.J.4
Ho, M.-F.5
Halford, S.6
Kere, J.7
-
28
-
-
0015308927
-
Diagnostic criteria in dominantly inherited juvenile optic atrophy: A report of three new families
-
Smith DP (1972) Diagnostic criteria in dominantly inherited juvenile optic atrophy: a report of three new families. Am J Optom Physiol Opt 49: 183-200
-
(1972)
Am J Optom Physiol Opt
, vol.49
, pp. 183-200
-
-
Smith, D.P.1
-
29
-
-
0027998919
-
Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1)
-
Snarey A, Thomas S, Schneider MC, Pound SE, Barton N, Wright AF, Somlo S (1994) Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1). Am. J Hum Genet 55: 365-371
-
(1994)
Am. J Hum Genet
, vol.55
, pp. 365-371
-
-
Snarey, A.1
Thomas, S.2
Schneider, M.C.3
Pound, S.E.4
Barton, N.5
Wright, A.F.6
Somlo, S.7
-
30
-
-
0030918368
-
Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28
-
Stoilova D, Child A, Desai SP, Sarfarazi M (1997) Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28. Ophthalmic Genet 18: 1-6
-
(1997)
Ophthalmic Genet
, vol.18
, pp. 1-6
-
-
Stoilova, D.1
Child, A.2
Desai, S.P.3
Sarfarazi, M.4
-
31
-
-
0028968329
-
A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic loci
-
Terwilliger JT (1995) A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic loci. Am J Hum Genet 56: 777-787
-
(1995)
Am J Hum Genet
, vol.56
, pp. 777-787
-
-
Terwilliger, J.T.1
-
33
-
-
2642652642
-
No evidence for genetic heterogeneity in autosomal dominant optic atrophy
-
Votruba M, Bhattacharya SS, Moore AT (1995) No evidence for genetic heterogeneity in autosomal dominant optic atrophy. Vision Res 35: S240
-
(1995)
Vision Res
, vol.35
-
-
Votruba, M.1
Bhattacharya, S.S.2
Moore, A.T.3
-
34
-
-
2642603612
-
Autosomal dominant optic atrophy (OPA) - Linkage of British pedigrees and refinement of the locus
-
Votruba M, Bhattacharya SS, Moore AT (1996) Autosomal dominant optic atrophy (OPA) - linkage of British pedigrees and refinement of the locus. Invest Ophthalmol Vis Sci 37: S656
-
(1996)
Invest Ophthalmol Vis Sci
, vol.37
-
-
Votruba, M.1
Bhattacharya, S.S.2
Moore, A.T.3
-
35
-
-
0031047752
-
Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2cM interval of chromosome 3q
-
Votruba M, Moore AT, Bhattacharya SS (1997) Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2cM interval of chromosome 3q. J Med Genet 34: 117-121
-
(1997)
J Med Genet
, vol.34
, pp. 117-121
-
-
Votruba, M.1
Moore, A.T.2
Bhattacharya, S.S.3
-
36
-
-
0028141921
-
Linkage disequilibrium patterns vary with chromosomal location: A case study from the von Willebrand factor region
-
Watkins WS, Zenger R, O'Brien E, Nyman D, Eriksson AW, Renlund M, Jorde LB (1994) Linkage disequilibrium patterns vary with chromosomal location: a case study from the von Willebrand factor region. Am J Hum Genet 55: 348-355
-
(1994)
Am J Hum Genet
, vol.55
, pp. 348-355
-
-
Watkins, W.S.1
Zenger, R.2
O'Brien, E.3
Nyman, D.4
Eriksson, A.W.5
Renlund, M.6
Jorde, L.B.7
-
37
-
-
0029881620
-
Sorsby's fundus dystrophy in the British Isles: Demonstration of a striking founder effect by microsatellite-generated haplotypes
-
Wijesuriya SD, Evans KE, Jay MR, Davison C, Weber BHF, Bird AC, Bhattacharya SS, et al (1996) Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. Genome Res 6: 92-101
-
(1996)
Genome Res
, vol.6
, pp. 92-101
-
-
Wijesuriya, S.D.1
Evans, K.E.2
Jay, M.R.3
Davison, C.4
Weber, B.H.F.5
Bird, A.C.6
Bhattacharya, S.S.7
-
38
-
-
0030994211
-
Fine-scale genetic mapping based on linkage disequilibrium: Theory and applications
-
Xiong M. Guo S (1997) Fine-scale genetic mapping based on linkage disequilibrium: theory and applications. Am J Hum Genet 60: 1513-1531
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1513-1531
-
-
Xiong, M.1
Guo, S.2
|