Literature DB >> 5764686

Dominant retinitis pigmentosa with reduced penetrance.

E L Berson, P Gouras, R D Gunkel, N C Myrianthopoulos.   

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Year:  1969        PMID: 5764686     DOI: 10.1001/archopht.1969.00990010228013

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


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  29 in total

1.  Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records.

Authors:  M Jay; A C Bird; A N Moore; B Jay
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

2.  Linkage of internal minisatellite loci on chromosome 1 and exclusion of autosomal dominant retinitis pigmentosa proximal to rhesus.

Authors:  C F Inglehearn; S S Papiha; M Jay; A F Wright; A T Moore; S S Bhattacharya
Journal:  J Med Genet       Date:  1990-01       Impact factor: 6.318

3.  Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

Authors:  T L McGee; M Devoto; J Ott; E L Berson; T P Dryja
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

4.  Optical coherence tomography and electro-oculogram abnormalities in X-linked retinitis pigmentosa.

Authors:  Enzo Maria Vingolo; Maria Luisa Livani; D Domanico; Regina H F Mendonça; Eduardo Rispoli
Journal:  Doc Ophthalmol       Date:  2006-09-06       Impact factor: 2.379

5.  A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance.

Authors:  Sofia Bhatia; Shiwali Goyal; Indu R Singh; Daljit Singh; Vanita Vanita
Journal:  Doc Ophthalmol       Date:  2018-08-11       Impact factor: 2.379

6.  Properties of electroretinographic intensity-response functions in retinitis pigmentosa.

Authors:  R W Massof; L Wu; D Finkelstein; C Perry; S J Starr; M A Johnson
Journal:  Doc Ophthalmol       Date:  1984-05-30       Impact factor: 2.379

7.  Peripheral absolute threshold spectral sensitivity in retinitis pigmentosa.

Authors:  R W Massof; M A Johnson; D Finkelstein
Journal:  Br J Ophthalmol       Date:  1981-02       Impact factor: 4.638

8.  Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.

Authors:  Sung Pyo Park; In Hwan Hong; Stephen H Tsang; Stanley Chang
Journal:  Eur J Hum Genet       Date:  2013-02-27       Impact factor: 4.246

9.  Two forms of autosomal dominant primary retinitis pigmentosa.

Authors:  R W Massof; D Finkelstein
Journal:  Doc Ophthalmol       Date:  1981-11       Impact factor: 2.379

10.  A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.

Authors:  Thomas Rio Frio; Terri L McGee; Nicholas M Wade; Christian Iseli; Jacques S Beckmann; Eliot L Berson; Carlo Rivolta
Journal:  Hum Mutat       Date:  2009-09       Impact factor: 4.878

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