Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8

Susan Halloran Blanton; John R. Heckenlively; Anne W. Cottingham; Jackie Friedman; Lori A. Sadler; Michael Wagner; Lorraine H. Friedman; Stephen P. Daiger

doi:10.1016/0888-7543(91)90008-3

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8

Genomics ◽

10.1016/0888-7543(91)90008-3 ◽

1991 ◽

Vol 11 (4) ◽

pp. 857-869 ◽

Cited By ~ 126

Author(s):

Susan Halloran Blanton ◽

John R. Heckenlively ◽

Anne W. Cottingham ◽

Jackie Friedman ◽

Lori A. Sadler ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Human Chromosome ◽

Linkage Mapping ◽

Autosomal Dominant ◽

Chromosome 8 ◽

Pericentric Region ◽

Autosomal Dominant Retinitis Pigmentosa

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Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa (ADRP) and detection of new linkage groups

Cytogenetic and Genome Research ◽

10.1159/000132758 ◽

1989 ◽

Vol 50 (4) ◽

pp. 181-187 ◽

Cited By ~ 7

Author(s):

S.P. Daiger ◽

M.M. Humphries ◽

N. Giesenschlag ◽

E. Sharp ◽

P. McWilliam ◽

...

Keyword(s):

Linkage Analysis ◽

Retinitis Pigmentosa ◽

Human Chromosome ◽

Autosomal Dominant ◽

Chromosome 4 ◽

Linkage Groups ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Human Chromosome 4

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Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family

Human Genetics ◽

10.1007/bf00225078 ◽

1995 ◽

Vol 95 (1) ◽

Cited By ~ 13

Author(s):

RachelE. McGuire ◽

AlexandraM. Gannon ◽

LoriS. Sullivan ◽

JosephA. Rodriguez ◽

StephenP. Daiger

Keyword(s):

Retinitis Pigmentosa ◽

Linkage Mapping ◽

Autosomal Dominant ◽

Major Gene ◽

Unrelated Family ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Chromosome 7Q

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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

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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

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Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)74360-9 ◽

1993 ◽

Vol 268 (35) ◽

pp. 26645-26649

Author(s):

C H Sung ◽

C M Davenport ◽

J Nathans

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Polypeptide Chain ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Functional Classes ◽

Rhodopsin Mutations

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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 ◽

Autosomal Dominant Retinitis Pigmentosa ◽

Rhodopsin Gene

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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

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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

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Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.

British Journal of Ophthalmology ◽

10.1136/bjo.77.8.473 ◽

1993 ◽

Vol 77 (8) ◽

pp. 473-479 ◽

Cited By ~ 33

Author(s):

A T Moore ◽

F Fitzke ◽

M Jay ◽

G B Arden ◽

C F Inglehearn ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Genetic Study ◽

Autosomal Dominant ◽

Molecular Genetic ◽

Incomplete Penetrance ◽

Molecular Genetic Study ◽

Autosomal Dominant Retinitis Pigmentosa

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Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

BMC Medical Genetics ◽

10.1186/1471-2350-7-35 ◽

2006 ◽

Vol 7 (1) ◽

Cited By ~ 8

Author(s):

María José Gamundi ◽

Imma Hernan ◽

María Martínez-Gimeno ◽

Miquel Maseras ◽

Blanca García-Sandoval ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

Spanish Population ◽

Autosomal Dominant Retinitis Pigmentosa ◽

The Common

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