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

Human Chromosome 4

Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13)

Ophthalmic Genetics ◽

10.1076/opge.23.1.1.2206 ◽

2002 ◽

Vol 23 (1) ◽

pp. 1-12 ◽

Cited By ~ 14

Author(s):

J.J.C. van Lith-Verhoeven ◽

S.D. van der Velde-Visser ◽

M.M. Sohocki ◽

A.F. Deutman ◽

H.M.A. Brink ◽

...

Keyword(s):

Linkage Analysis ◽

Retinitis Pigmentosa ◽

Mutation Analysis ◽

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 ◽

Rhodopsin Gene

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 ◽

Rapid communication: localization of the porcine carboxypeptidase-E gene by linkage analysis further extends the region of synteny between human chromosome 4 and porcine chromosome 8.

Journal of Animal Science ◽

10.2527/1998.7682211x ◽

1998 ◽

Vol 76 (8) ◽

pp. 2211 ◽

Cited By ~ 3

Author(s):

E J Cargill ◽

L C Baskin ◽

D Pomp

Keyword(s):

Linkage Analysis ◽

Human Chromosome ◽

Chromosome 8 ◽

Chromosome 4 ◽

Porcine Chromosome ◽

Rapid Communication ◽

E Gene ◽

Carboxypeptidase E ◽

Human Chromosome 4 ◽

Carboxypeptidase E Gene

Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa.

Journal of Medical Genetics ◽

10.1136/jmg.19.4.266 ◽

1982 ◽

Vol 19 (4) ◽

pp. 266-270 ◽

Cited By ~ 15

Author(s):

L L Field ◽

J R Heckenlively ◽

R S Sparkes ◽

C A Garcia ◽

C Farson ◽

...

Keyword(s):

Linkage Analysis ◽

Retinitis Pigmentosa ◽

Autosomal Dominant ◽

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 ◽

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 ◽

Ubiquitin Proteasome

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 ◽

Functional Classes ◽

Rhodopsin Mutations

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 ◽

Rhodopsin Gene

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