High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

High Prevalence

Phenotypic Characterization of 3 Families With Autosomal Dominant Retinitis Pigmentosa Due to Mutations in KLHL7

Archives of Ophthalmology ◽

10.1001/archophthalmol.2011.307 ◽

2011 ◽

Vol 129 (11) ◽

pp. 1475 ◽

Cited By ~ 21

Author(s):

Yuquan Wen

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Phenotypic Characterization ◽

Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

European Journal of Human Genetics ◽

10.1038/ejhg.2008.223 ◽

2008 ◽

Vol 17 (5) ◽

pp. 651-655 ◽

Cited By ~ 13

Author(s):

Linda Köhn ◽

Sara J Bowne ◽

Lori S Sullivan ◽

Stephen P Daiger ◽

Marie SI Burstedt ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Incomplete Penetrance ◽

Genomic Deletion ◽

Synthesis and characterization of a novel retinylamine analog inhibitor of constitutively active rhodopsin mutants found in patients with autosomal dominant retinitis pigmentosa

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.94.25.13559 ◽

1997 ◽

Vol 94 (25) ◽

pp. 13559-13564 ◽

Cited By ~ 9

Author(s):

T. Yang ◽

B. B. Snider ◽

D. D. Oprian

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Synthesis And Characterization ◽

Constitutively Active

Clinical Features of a Previously Undescribed Codon 216 (proline to serine) Mutation in the Peripherin/Retinal Degeneration Slow Gene in Autosomal Dominant Retinitis Pigmentosa

Ophthalmology ◽

10.1016/s0161-6420(94)31156-0 ◽

1994 ◽

Vol 101 (8) ◽

pp. 1409-1421 ◽

Cited By ~ 13

Author(s):

Gerald A. Fishman ◽

Edwin Stone ◽

Leonardo D. Gilbert ◽

Kimberlie Vandenburgh ◽

Val C. Sheffield ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Retinal Degeneration ◽

Clinical Features ◽

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 ◽

Rhodopsin Gene

Clinical Features of Autosomal Dominant Retinitis Pigmentosa Associated with the Ser 186TRP Mutation of Rhodopsin

Degenerative Diseases of the Retina ◽

10.1007/978-1-4615-1897-6_34 ◽

1995 ◽

pp. 303-312 ◽

Cited By ~ 3

Author(s):

K. Rüther ◽

C. L. V. Ballestrem ◽

A. Müller ◽

S. Kremmer ◽

A. Eckstein ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Clinical Features ◽

Autosomal Dominant ◽

Phenotypic Characterization of a Large Family With RP10 Autosomal-Dominant Retinitis Pigmentosa: An Asp226Asn Mutation in the IMPDH1 Gene

American Journal of Ophthalmology ◽

10.1016/j.ajo.2005.05.027 ◽

2005 ◽

Vol 140 (5) ◽

pp. 858-867.e1 ◽

Cited By ~ 9

Author(s):

Petra Kozma ◽

Dianna K. Hughbanks-Wheaton ◽

Kirsten G. Locke ◽

Garry E. Fish ◽

Anisa I. Gire ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Large Family ◽

Phenotypic Characterization ◽

Clinical Features of Autosomal Dominant Retinitis Pigmentosa Associated with the GLY-188-ARG Mutation of the Rhodopsin Gene

Retinal Degeneration ◽

10.1007/978-1-4615-2974-3_9 ◽

1993 ◽

pp. 91-101 ◽

Cited By ~ 6

Author(s):

Giuseppe Del Porto ◽

Enzo M. Vingolo ◽

Dezsö David ◽

Katharina Steindl ◽

Heike Wedemann ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Clinical Features ◽

Autosomal Dominant ◽

Rhodopsin Gene

921. Gene Therapy for P23H Rhodopsin-Linked Autosomal Dominant Retinitis Pigmentosa (ADRP): Characterization of Allele-Specific Hammerhead Ribozymes and Production of Human P23H Rhodopsin Transgenic Mice

Molecular Therapy ◽

10.1016/s1525-0016(16)43751-2 ◽

2002 ◽

Vol 5 (5) ◽

pp. S301

Keyword(s):

Gene Therapy ◽

Transgenic Mice ◽

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Hammerhead Ribozymes ◽

Allele Specific

Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene

Graefe s Archive for Clinical and Experimental Ophthalmology ◽

10.1007/s00417-004-0923-x ◽

2004 ◽

Vol 242 (11) ◽

pp. 956-961 ◽

Cited By ~ 8

Author(s):

Yuko Wada ◽

Toshitaka Itabashi ◽

Hajime Sato ◽

Makoto Tamai

Keyword(s):

Retinitis Pigmentosa ◽

Clinical Features ◽

Autosomal Dominant ◽

Japanese Family ◽