-
1
-
-
0001482616
-
Die komplizierte, hereditar-familiare Optikusatrophie des Kindesalters: Ein bisher nicht beschriebener Symptomenkomplex
-
Behr C (1909) Die komplizierte, hereditar-familiare Optikusatrophie des Kindesalters: ein bisher nicht beschriebener Symptomenkomplex. Klin Monatsbl Augenheilkd 47:138-160
-
(1909)
Klin Monatsbl Augenheilkd
, vol.47
, pp. 138-160
-
-
Behr, C.1
-
2
-
-
0026410029
-
Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type
-
Bergen AAB, Samanns C, Schuurman EJM, van Osch L, van Dorp DB, Pinckers AJLG, Bakker E, et al (1991) Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type. Hum Genet 88:162-166
-
(1991)
Hum Genet
, vol.88
, pp. 162-166
-
-
Bergen, A.A.B.1
Samanns, C.2
Schuurman, E.J.M.3
Van Osch, L.4
Van Dorp, D.B.5
Pinckers, A.J.L.G.6
Bakker, E.7
-
3
-
-
0029102268
-
Leber's hereditary optic neuropathy: Implications of the sex-ratio for linkage studies in families with the 3460 ND1 mutation
-
Black GCM, Craig IW, Oostra RJ, Norby S, Morten K, Laborde A, Poulton J (1995) Leber's hereditary optic neuropathy: implications of the sex-ratio for linkage studies in families with the 3460 ND1 mutation. Eye 9:513-516
-
(1995)
Eye
, vol.9
, pp. 513-516
-
-
Black, G.C.M.1
Craig, I.W.2
Oostra, R.J.3
Norby, S.4
Morten, K.5
Laborde, A.6
Poulton, J.7
-
4
-
-
0025820109
-
X Chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: Evidence from segregation analysis for dependence on X-chromosome inactivation
-
Bu XD, Rotter JI (1991) X Chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X-chromosome inactivation. Proc Natl Acad Sci USA 88: 8198-8202
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 8198-8202
-
-
Bu, X.D.1
Rotter, J.I.2
-
5
-
-
0026592199
-
Leber's hereditary optic neuropathy and the X-chromosomal susceptibility factor: No linkage to DXs7
-
Carvalho MR, Muller B, Rotzer E, Berninger T, Kommerell G, Blankenagel A, Savontaus ML, et al (1992) Leber's hereditary optic neuropathy and the X-chromosomal susceptibility factor: no linkage to DXs7. Hum Hered 42:316-320
-
(1992)
Hum Hered
, vol.42
, pp. 316-320
-
-
Carvalho, M.R.1
Muller, B.2
Rotzer, E.3
Berninger, T.4
Kommerell, G.5
Blankenagel, A.6
Savontaus, M.L.7
-
6
-
-
0024380419
-
Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis
-
Chen JD, Cox I, Denton MJ (1989) Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis. Hum Genet 82:203-207
-
(1989)
Hum Genet
, vol.82
, pp. 203-207
-
-
Chen, J.D.1
Cox, I.2
Denton, M.J.3
-
7
-
-
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
-
9
-
-
0027483762
-
Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuropathy (LHON)
-
Juvonen V, Vilkki J, Aula P, Nikoskelainen E, Savontaus ML (1993) Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuropathy (LHON). Am J Hum Genet 53:289-292
-
(1993)
Am J Hum Genet
, vol.53
, pp. 289-292
-
-
Juvonen, V.1
Vilkki, J.2
Aula, P.3
Nikoskelainen, E.4
Savontaus, M.L.5
-
10
-
-
16944362929
-
Infantile optic atrophy with dominant mode of inheritance
-
Vinken PJ, Bruyn GW (eds) North Holland Publishing Company, Amsterdam
-
Kjer P (1972) Infantile optic atrophy with dominant mode of inheritance. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology. North Holland Publishing Company, Amsterdam, pp 111-123
-
(1972)
Handbook of Clinical Neurology
, pp. 111-123
-
-
Kjer, P.1
-
11
-
-
0014915378
-
Four families with the dominant infantile form of optic nerve atrophy
-
Kok-van Alphen CC (1970) Four families with the dominant infantile form of optic nerve atrophy. Acta Ophthalmol 48: 905-916
-
(1970)
Acta Ophthalmol
, vol.48
, pp. 905-916
-
-
Kok-van Alphen, C.C.1
-
13
-
-
0021920508
-
Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO)
-
Meire F, De Laey JJ, de Bie S, van Staey M, Matton MT (1985) Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). Ophthalmic Paediatr Genet 5:91-97
-
(1985)
Ophthalmic Paediatr Genet
, vol.5
, pp. 91-97
-
-
Meire, F.1
De Laey, J.J.2
De Bie, S.3
Van Staey, M.4
Matton, M.T.5
-
14
-
-
0029925130
-
No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber hereditary optic neuropathy in female carriers
-
Oostra RJ, Kemp S, Bolhuis PA, Bleeker-Wagemakers EM (1996) No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber hereditary optic neuropathy in female carriers. Hum Genet 97:500-505
-
(1996)
Hum Genet
, vol.97
, pp. 500-505
-
-
Oostra, R.J.1
Kemp, S.2
Bolhuis, P.A.3
Bleeker-Wagemakers, E.M.4
-
15
-
-
0014126228
-
Familial opticoacoustic nerve degeneration and polyneuropathy
-
Rosenberg RN, Chutorian A (1967) Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology 17: 827-832
-
(1967)
Neurology
, vol.17
, pp. 827-832
-
-
Rosenberg, R.N.1
Chutorian, A.2
-
16
-
-
0026693837
-
Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy
-
Sweeney MG, Davis MB, Lashwood A, Brockington M, Toscano A, Harding AE (1992) Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy. Am J Hum Genet 51:741-748
-
(1992)
Am J Hum Genet
, vol.51
, pp. 741-748
-
-
Sweeney, M.G.1
Davis, M.B.2
Lashwood, A.3
Brockington, M.4
Toscano, A.5
Harding, A.E.6
-
17
-
-
0021744337
-
Growth retardation, alopecia, pseudo-anodontia, and optic atrophy-the GAPO syndrome: Report of a patient and review of the literature
-
Tipton RE, Gorlin RJ (1984) Growth retardation, alopecia, pseudo-anodontia, and optic atrophy-the GAPO syndrome: report of a patient and review of the literature. Am J Med Genet 19:217-223
-
(1984)
Am J Med Genet
, vol.19
, pp. 217-223
-
-
Tipton, R.E.1
Gorlin, R.J.2
-
18
-
-
0021223404
-
Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy: A new syndrome
-
Treft RL, Sanborn GE, Carey J, Swartz M, Crisp D, Wester DC, Creel D (1984) Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy: a new syndrome. Ophthalmology 91:908-915
-
(1984)
Ophthalmology
, vol.91
, pp. 908-915
-
-
Treft, R.L.1
Sanborn, G.E.2
Carey, J.3
Swartz, M.4
Crisp, D.5
Wester, D.C.6
Creel, D.7
-
19
-
-
0008646419
-
Leber's disease in the Netherlands
-
van Senus AHC (1963) Leber's disease in the Netherlands. Doc Ophthalmol 17:1-162
-
(1963)
Doc Ophthalmol
, vol.17
, pp. 1-162
-
-
Van Senus, A.H.C.1
-
20
-
-
0026034238
-
Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7
-
Vilkki J, Ott J, Savontaus M-L, Aula P, Nikoskelainen EK (1991) Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet 48:486-491
-
(1991)
Am J Hum Genet
, vol.48
, pp. 486-491
-
-
Vilkki, J.1
Ott, J.2
Savontaus, M.-L.3
Aula, P.4
Nikoskelainen, E.K.5
-
21
-
-
0016300009
-
A family with sex linked optic atrophy
-
Völker-Dieben HJ, van Lith GHM, Went LN, Klawer JW, Staal A, de Vries-de Mol EC (1974) A family with sex linked optic atrophy. Doc Ophthalmol 37:307-326
-
(1974)
Doc Ophthalmol
, vol.37
, pp. 307-326
-
-
Völker-Dieben, H.J.1
Van Lith, G.H.M.2
Went, L.N.3
Klawer, J.W.4
Staal, A.5
De Vries-de Mol, E.C.6
-
22
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AMS, Elsas LJ, et al (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427-1430
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.M.S.6
Elsas, L.J.7
-
24
-
-
0000804149
-
Diabetes mellitus and simple optic atrophy among siblings: Report of four cases
-
Wolfram DJ, Wagener HP (1938) Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Proc Staff Meet Mayo Clin 13:715-718
-
(1938)
Proc Staff Meet Mayo Clin
, vol.13
, pp. 715-718
-
-
Wolfram, D.J.1
Wagener, H.P.2
|