Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa.

J J Wroblewski; J A Wells; A Eckstein; F W Fitzke; C Jubb; T J Keen; C F Inglehearn; S S Bhattacharya; G B Arden; M R Jay

doi:10.1136/bjo.78.11.831

Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa.

British Journal of Ophthalmology ◽

10.1136/bjo.78.11.831 ◽

1994 ◽

Vol 78 (11) ◽

pp. 831-836 ◽

Cited By ~ 6

Author(s):

J J Wroblewski ◽

J A Wells ◽

A Eckstein ◽

F W Fitzke ◽

C Jubb ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Base Pair ◽

Autosomal Dominant ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Ocular Findings ◽

Base Pair Deletion

Download Full-text

Ocular Findings in Patients with Autosomal Dominant Retinitis Pigmentosa Due to a 3-Base Pair Deletion at Codon 255/256 of the Human Rhodopsin Gene

Retinal Degeneration ◽

10.1007/978-1-4615-2974-3_10 ◽

1993 ◽

pp. 103-114

Author(s):

Birgit Lorenz ◽

Christine Hörmann ◽

Monika Horn ◽

Thomas Berninger ◽

Monika Döring ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Base Pair ◽

Autosomal Dominant ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Rhodopsin Gene ◽

Ocular Findings ◽

Base Pair Deletion

Download Full-text

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 ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Rhodopsin Gene ◽

Ocular Findings ◽

Transversion Mutation

Download Full-text

Ocular Findings in Patients With Autosomal Dominant Retinitis Pigmentosa and Transversion Mutation in Codon 244 (Asn244Lys) of the Peripherin/RDS Gene

Archives of Ophthalmology ◽

10.1001/archopht.1994.01090240073028 ◽

1994 ◽

Vol 112 (12) ◽

pp. 1567 ◽

Cited By ~ 13

Author(s):

Mitsuru Nakazawa

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Ocular Findings ◽

Transversion Mutation

Download Full-text

Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor GenePRPF31(RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion

Ophthalmic Genetics ◽

10.3109/13816810.2012.762932 ◽

2013 ◽

Vol 34 (4) ◽

pp. 183-188 ◽

Cited By ~ 12

Author(s):

Virginia M. Utz ◽

Craig D. Beight ◽

Meghan J. Marino ◽

Stephanie A. Hagstrom ◽

Elias I. Traboulsi

Keyword(s):

Retinitis Pigmentosa ◽

Base Pair ◽

Autosomal Dominant ◽

Mrna Splicing ◽

Splicing Factor ◽

Disease Mechanism ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Base Pair Insertion

Download Full-text

Ocular Findings in Patients with Autosomal Dominant Retinitis Pigmentosa and Rhodopsin, Proline-347-Leucine

American Journal of Ophthalmology ◽

10.1016/s0002-9394(14)73708-0 ◽

1991 ◽

Vol 111 (5) ◽

pp. 614-623 ◽

Cited By ~ 102

Author(s):

Eliot L. Berson ◽

Bernard Rosner ◽

Michael A. Sandberg ◽

Carol Weigel-DiFranco ◽

Thaddeus P. Dryja

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Ocular Findings

Download Full-text

Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and GIn344stop mutations of rhodopsin

Graefe s Archive for Clinical and Experimental Ophthalmology ◽

10.1007/bf00947087 ◽

1997 ◽

Vol 235 (9) ◽

pp. 575-583 ◽

Cited By ~ 7

Author(s):

Stephan Kremmer ◽

Anja Eckstein ◽

Andreas Gal ◽

Eckart Apfelstedt-Sylla ◽

Heike Wedemann ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Ocular Findings

Download Full-text

Ocular Findings in Patients With Autosomal Dominant Retinitis Pigmentosa and a Rhodopsin Gene Defect (Pro-23-His)

Archives of Ophthalmology ◽

10.1001/archopht.1991.01080010094039 ◽

1991 ◽

Vol 109 (1) ◽

pp. 92 ◽

Cited By ~ 149

Author(s):

Eliot L. Berson

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Gene Defect ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Rhodopsin Gene ◽

Ocular Findings

Download Full-text

Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin.

British Journal of Ophthalmology ◽

10.1136/bjo.77.8.495 ◽

1993 ◽

Vol 77 (8) ◽

pp. 495-501 ◽

Cited By ~ 24

Author(s):

E Apfelstedt-Sylla ◽

M Kunisch ◽

M Horn ◽

K Ruther ◽

H Gerding ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Frameshift Mutation ◽

Terminal Sequence ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Ocular Findings ◽

Carboxyl Terminal

Download Full-text

A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene

Case Medical Research ◽

10.31525/ct1-nct04123626 ◽

2019 ◽

Author(s):

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Autosomal Dominant Retinitis Pigmentosa

Download Full-text

Faculty Opinions recommendation of A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1008543.108057 ◽

2002 ◽

Author(s):

David Bessant

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Ubiquitin Proteasome System ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Ubiquitin Proteasome

Download Full-text