Three novel mutations (P215L, T289P, and 3811-2 A?G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families

Further Screening of the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa

Genomics ◽

10.1006/geno.1994.1301 ◽

1994 ◽

Vol 21 (2) ◽

pp. 461-463 ◽

Cited By ~ 34

Author(s):

Rajani Vaithinathan ◽

Eliot L. Berson ◽

Thaddeus P. Dryja

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Ocular Findings Associated With a Rhodopsin Gene Codon 58 Transversion Mutation in Autosomal Dominant Retinitis Pigmentosa

Archives of Ophthalmology ◽

10.1001/archopht.1991.01080100067044 ◽

1991 ◽

Vol 109 (10) ◽

pp. 1387 ◽

Cited By ~ 72

Author(s):

Gerald A. Fishman

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Rhodopsin Gene ◽

Ocular Findings ◽

Transversion Mutation

Homozygous and heterozygous Gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

Ophthalmic Genetics ◽

10.1076/1381-6810(200006)21:2;1-8;ft079 ◽

2000 ◽

Vol 21 (2) ◽

pp. 79-87 ◽

Cited By ~ 1

Author(s):

Carlos Reig ◽

Maria Martinez-Gimeno ◽

Blanca Garcia-Sandoval ◽

M. Teresa Calvo ◽

Carmen Ayuso ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

The Japanese Journal of Human Genetics ◽

10.1007/bf01899733 ◽

1992 ◽

Vol 37 (2) ◽

pp. 125-132 ◽

Cited By ~ 56

Author(s):

Keiko Fujiki ◽

Yoshihiro Hotta ◽

Mutsuko Hayakawa ◽

Hitoshi Sakuma ◽

Takashi Shiono ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Point Mutations ◽

Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in a Japanese Family with Autosomal Dominant Retinitis Pigmentosa

Japanese Journal of Ophthalmology ◽

10.1016/s0021-5155(00)00286-0 ◽

2000 ◽

Vol 44 (6) ◽

pp. 610-614 ◽

Cited By ~ 9

Author(s):

M Budu

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Japanese Family ◽

Mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

Experimental Eye Research ◽

10.1016/0014-4835(92)91111-a ◽

1992 ◽

Vol 55 ◽

pp. 252

Author(s):

H. Sakuma ◽

Y. Hotta ◽

M. Hayakawa ◽

A. Nakajima ◽

K. Fujiki ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Clinical Features of Autosomal Dominant Retinitis Pigmentosa With Rhodopsin Gene Codon 17 Mutation and Retinal Neovascularization in a Japanese Patient

American Journal of Ophthalmology ◽

10.1016/s0002-9394(14)73920-0 ◽

1993 ◽

Vol 115 (2) ◽

pp. 168-173 ◽

Cited By ~ 57

Author(s):

Mutsuko Hayakawa ◽

Yoshihiro Hotta ◽

Yoshie Imai ◽

Keiko Fujiki ◽

Atsuo Nakamura ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Clinical Features ◽

Japanese Patient ◽

Autosomal Dominant ◽

Retinal Neovascularization ◽

Homozygous and heterozygous Gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

Ophthalmic Genetics ◽

10.1076/1381-6810(200006)2121-8ft079 ◽

2000 ◽

Vol 21 (2) ◽

pp. 79-87 ◽

Cited By ~ 4

Author(s):

Carlos Reig ◽

M. José Trujillo ◽

Maria Martinez-Gimeno ◽

Blanca Garcia-Sandoval ◽

M. Teresa Calvo ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosa

Journal of Human Genetics ◽

10.1038/jhg.2010.68 ◽

2010 ◽

Vol 55 (9) ◽

pp. 571-576 ◽

Cited By ~ 2

Author(s):

Haike Guo ◽

Yongjie Qin ◽

Qianli Meng ◽

Hongyang Zhang ◽

Haiying Jin ◽

...

Keyword(s):

Linkage Analysis ◽

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Mutation Screening ◽

A missense mutation (211His-Arg) and a silent (160Thr) mutation within the rhodopsin gene in a Spanish autosomal dominant retinitis pigmentosa family

Human Molecular Genetics ◽

10.1093/hmg/3.1.195 ◽

1994 ◽

Vol 3 (1) ◽

pp. 195-196 ◽

Cited By ~ 43

Author(s):

C. Reig ◽

N. Liecha ◽

J. Antich ◽

E. Gean ◽

I. Tejada ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Missense Mutation ◽

Autosomal Dominant ◽