-
1
-
-
0017826072
-
Autosomal recessively inherited ocular albinism: A new form of ocular albinism affecting females as severely as males
-
O'Donnell F.E., King R.A., Green W.R., and Witkop C.J. Autosomal recessively inherited ocular albinism: A new form of ocular albinism affecting females as severely as males. Ach Ophthalmol 96 (1978) 1621-1625
-
(1978)
Ach Ophthalmol
, vol.96
, pp. 1621-1625
-
-
O'Donnell, F.E.1
King, R.A.2
Green, W.R.3
Witkop, C.J.4
-
2
-
-
0028878474
-
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
-
Fukai K., Holmes S.A., Luchesse N.J., Siu V.M., Weleber R.G., and Schnur R.E. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet 9 (1995) 92-95
-
(1995)
Nat Genet
, vol.9
, pp. 92-95
-
-
Fukai, K.1
Holmes, S.A.2
Luchesse, N.J.3
Siu, V.M.4
Weleber, R.G.5
Schnur, R.E.6
-
3
-
-
41949098097
-
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients
-
Hutton S.M., and Spritz R.A. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. IOVS 49 (2008) 868-872
-
(2008)
IOVS
, vol.49
, pp. 868-872
-
-
Hutton, S.M.1
Spritz, R.A.2
-
4
-
-
51749122096
-
Abnormalities of pigmentation
-
Rimoin D.L., et al. (Ed), Churchill-Livingstone, Philadelphia (PA)
-
King R.A., Oetting W.S., Summers C.G., Creel D.J., and Hearing V.J. Abnormalities of pigmentation. In: Rimoin D.L., et al. (Ed). Principles and practice of medical genetics. 5th ed (2007), Churchill-Livingstone, Philadelphia (PA) 3380-3427
-
(2007)
Principles and practice of medical genetics. 5th ed
, pp. 3380-3427
-
-
King, R.A.1
Oetting, W.S.2
Summers, C.G.3
Creel, D.J.4
Hearing, V.J.5
-
5
-
-
0026150607
-
A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity
-
Tripathi R.K., Giebel L.B., Strunk K.M., and Spritz R.A. A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity. Gene Expr 1 (1991) 103-110
-
(1991)
Gene Expr
, vol.1
, pp. 103-110
-
-
Tripathi, R.K.1
Giebel, L.B.2
Strunk, K.M.3
Spritz, R.A.4
-
6
-
-
62649158351
-
Birth prevalence and mutation spectrum in Danish patients with autosomal recessive albinism
-
Gronskov K., Ek J., Sand A., et al. Birth prevalence and mutation spectrum in Danish patients with autosomal recessive albinism. IOVS 50 (2009) 1058-1064
-
(2009)
IOVS
, vol.50
, pp. 1058-1064
-
-
Gronskov, K.1
Ek, J.2
Sand, A.3
-
7
-
-
47549089269
-
Visual insignificance of the foveal pit: Reassessment of foveal hypoplasia as fovea plana
-
Marmor M.F., Choi S.S., Zawadzki R.J., and Werner J.S. Visual insignificance of the foveal pit: Reassessment of foveal hypoplasia as fovea plana. Arch Ophthalmol 126 (2008) 907-913
-
(2008)
Arch Ophthalmol
, vol.126
, pp. 907-913
-
-
Marmor, M.F.1
Choi, S.S.2
Zawadzki, R.J.3
Werner, J.S.4
-
8
-
-
54049142109
-
Multimodal fundus imaging in foveal hypoplasia: Combined scanning laser ophthalmoscope imaging and spectral-domain optical coherence tomography
-
Charbel Issa P., Foerl M., Helb H.M., Scholl H.P., and Holz F.G. Multimodal fundus imaging in foveal hypoplasia: Combined scanning laser ophthalmoscope imaging and spectral-domain optical coherence tomography. Arch Ophthalmol 126 (2008) 1463-1465
-
(2008)
Arch Ophthalmol
, vol.126
, pp. 1463-1465
-
-
Charbel Issa, P.1
Foerl, M.2
Helb, H.M.3
Scholl, H.P.4
Holz, F.G.5
-
9
-
-
58449102790
-
Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography
-
Chong G.T., Farsiu S., Freedman S.F., et al. Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. Arch Ophthalmol 127 (2009) 37-44
-
(2009)
Arch Ophthalmol
, vol.127
, pp. 37-44
-
-
Chong, G.T.1
Farsiu, S.2
Freedman, S.F.3
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