-
1
-
-
0002580692
-
Albinism
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York, NY: McGraw-Hill
-
King RA, Hearing VJ, Creel DJ, Oetting WS. Albinism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. New York, NY: McGraw-Hill, 1995; Vol. III: 4353-4392.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, vol.3
, pp. 4353-4392
-
-
King, R.A.1
Hearing, V.J.2
Creel, D.J.3
Oetting, W.S.4
-
2
-
-
0027278123
-
Refinement of the localisation of the X-linked ocular albinism gene
-
Bergen AAB. Refinement of the localisation of the X-linked ocular albinism gene. Genomics. 1993;16:272-273.
-
(1993)
Genomics
, vol.16
, pp. 272-273
-
-
Bergen, A.A.B.1
-
3
-
-
0028852091
-
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
-
Schiaffino MV, Bassi MT, Balli L, Renieri A, Brutini M, De Nigris F, Bergen AAB, Charles SJ, Yates JRW, Meindl A, Lewis RA, King RA, Ballabio A. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism . Hum Mol Genet. 1995;4:2319-2325.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2319-2325
-
-
Schiaffino, M.V.1
Bassi, M.T.2
Balli, L.3
Renieri, A.4
Brutini, M.5
De Nigris, F.6
Bergen, A.A.B.7
Charles, S.J.8
Yates, J.R.W.9
Meindl, A.10
Lewis, R.A.11
King, R.A.12
Ballabio, A.13
-
4
-
-
0037903275
-
The Human Gene Mutation Database (HGMD®): 2003 Update
-
Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. The Human Gene Mutation Database (HGMD®): 2003 Update. Hum Mut. 2003;21:577-581.
-
(2003)
Hum Mut
, vol.21
, pp. 577-581
-
-
Stenson, P.D.1
Ball, E.V.2
Mort, M.3
Phillips, A.D.4
Shiel, J.A.5
Thomas, N.S.6
Abeysinghe, S.7
Krawczak, M.8
Cooper, D.N.9
-
5
-
-
0036162139
-
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene
-
Oetting WS. New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene. Hum Mutat. 2002;19:85-92.
-
(2002)
Hum Mutat
, vol.19
, pp. 85-92
-
-
Oetting, W.S.1
-
6
-
-
0028618160
-
Age differences of visual field impairment and mutation spectrum in Danish choroideremia patients
-
Rosenberg T, Schwartz M. Age differences of visual field impairment and mutation spectrum in Danish choroideremia patients. Acta Ophthalmol (Copenh). 1994;72:678-682.
-
(1994)
Acta Ophthalmol (Copenh)
, vol.72
, pp. 678-682
-
-
Rosenberg, T.1
Schwartz, M.2
-
7
-
-
0034642294
-
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1
-
D'Addio M, Pizzigoni A, Bassi MT, Baschirotto C, Valetti C, Incerti B, Clementi M, De Luca M, Ballabio A, Schiaffino MV. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. Hum Mol Genet. 2000;9:3011-3018.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 3011-3018
-
-
D'Addio, M.1
Pizzigoni, A.2
Bassi, M.T.3
Baschirotto, C.4
Valetti, C.5
Incerti, B.6
Clementi, M.7
De Luca, M.8
Ballabio, A.9
Schiaffino, M.V.10
-
9
-
-
0026511277
-
Neurodevelopmental criteria in the classification of congenital motor nystagmus
-
Jan JE, Carruthers JDA, Tillson G. Neurodevelopmental criteria in the classification of congenital motor nystagmus. J Neurol Sci. 1992;19:76-79.
-
(1992)
J Neurol Sci
, vol.19
, pp. 76-79
-
-
Jan, J.E.1
Carruthers, J.D.A.2
Tillson, G.3
-
11
-
-
0030001442
-
A gene for autosomal dominant congenital nystagmus localizes to 6p12
-
Kerrison JB, Arnould VJ, Barmada MM, Koenekoop RK, Schmeckpeper BJ, Maumenee IH. 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
Koenekoop, R.K.4
Schmeckpeper, B.J.5
Maumenee, I.H.6
-
12
-
-
0033365220
-
Gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-11.3
-
Cabot A, Rozet J-M, Gerber S, Perrault I, Ducroq D, Smahi A, Souied E, Munnich A, Kaplan JA. gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-11.3. Am J Hum Genet. 1999;64:1141-1146.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1141-1146
-
-
Cabot, A.1
Rozet, J.-M.2
Gerber, S.3
Perrault, I.4
Ducroq, D.5
Smahi, A.6
Souied, E.7
Munnich, A.8
Kaplan, J.A.9
-
14
-
-
0027233787
-
Clinical features of affected males with X linked ocular albinism
-
Charles SJ, Green JS, Grant JW, Yates JRW, Moore AT. Clinical features of affected males with X linked ocular albinism. Br J Ophthalmol. 1993;77:222-227.
-
(1993)
Br J Ophthalmol
, vol.77
, pp. 222-227
-
-
Charles, S.J.1
Green, J.S.2
Grant, J.W.3
Yates, J.R.W.4
Moore, A.T.5
-
15
-
-
0028915146
-
X-linked ocular albinism in Japanese patients
-
Shiono T, Tsunoda M, Chida Y, Nakazawa M, Tamai M. X-linked ocular albinism in Japanese patients. Br J Ophthalmol. 1995;79:139-144.
-
(1995)
Br J Ophthalmol
, vol.79
, pp. 139-144
-
-
Shiono, T.1
Tsunoda, M.2
Chida, Y.3
Nakazawa, M.4
Tamai, M.5
-
17
-
-
0018087645
-
Visual system anomalies in human ocular albinos
-
Creel D, O'Donnell FE, Witkop CJ. Visual system anomalies in human ocular albinos. Science. 1978;201:931-933.
-
(1978)
Science
, vol.201
, pp. 931-933
-
-
Creel, D.1
O'Donnell, F.E.2
Witkop, C.J.3
-
20
-
-
0032435196
-
X-linked ocular albinism: Prevalence and mutations - A national study
-
Rosenberg T, Schwartz M. X-linked ocular albinism: prevalence and mutations - a national study. Eur J Hum Genet. 1998;6:570-577.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 570-577
-
-
Rosenberg, T.1
Schwartz, M.2
-
21
-
-
0025183708
-
Basic local alignment search tool
-
Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ. Basic local alignment search tool. J Mol Biol. 1990;215:403-410.
-
(1990)
J Mol Biol
, vol.215
, pp. 403-410
-
-
Altschul, S.F.1
Gish, W.2
Miller, W.3
Myers, E.W.4
Lipman, D.J.5
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