Literature DB >> 8079997

Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic.

C Inglehearn, T J Keen, M al-Maghtheh, S Bhattacharya.   

Abstract

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Year:  1994        PMID： 8079997      PMCID： PMC1918416     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  7 in total

1.  Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9).

Authors:  C F Inglehearn; T J Keen; M al-Maghtheh; C Y Gregory; M R Jay; A T Moore; A C Bird; S S Bhattacharya
Journal:  Am J Hum Genet       Date:  1994-04       Impact factor: 11.025

2.  A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.

Authors:  K Kajiwara; M A Sandberg; E L Berson; T P Dryja
Journal:  Nat Genet       Date:  1993-03       Impact factor: 38.330

3.  Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.

Authors:  B E Nichols; V C Sheffield; K Vandenburgh; A V Drack; A E Kimura; E M Stone
Journal:  Nat Genet       Date:  1993-03       Impact factor: 38.330

4.  Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

Authors:  J Wells; J Wroblewski; J Keen; C Inglehearn; C Jubb; A Eckstein; M Jay; G Arden; S Bhattacharya; F Fitzke
Journal:  Nat Genet       Date:  1993-03       Impact factor: 38.330

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

Authors:  A T Moore; F Fitzke; M Jay; G B Arden; C F Inglehearn; T J Keen; S S Bhattacharya; A C Bird
Journal:  Br J Ophthalmol       Date:  1993-08       Impact factor: 4.638

6.  A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

Authors:  C F Inglehearn; S A Carter; T J Keen; J Lindsey; A M Stephenson; R Bashir; M al-Maghtheh; A T Moore; M Jay; A C Bird
Journal:  Nat Genet       Date:  1993-05       Impact factor: 38.330

7.  Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p.

Authors:  H Kremer; A Pinckers; B van den Helm; A F Deutman; H H Ropers; E C Mariman
Journal:  Hum Mol Genet       Date:  1994-02       Impact factor: 6.150
  7 in total
  3 in total

1.  The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart.

Authors:  P Bourgeois; C Stoetzel; A L Bolcato-Bellemin; M G Mattei; F Perrin-Schmitt
Journal:  Mamm Genome       Date:  1996-12       Impact factor: 2.957

Review 2.  Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.

Authors:  A Iannaccone
Journal:  Doc Ophthalmol       Date:  2001-05       Impact factor: 2.379

3.  Temporal ChIP-on-Chip of RNA-Polymerase-II to detect novel gene activation events during photoreceptor maturation.

Authors:  Padmaja Tummala; Raghuveer S Mali; Eduardo Guzman; Xiao Zhang; Kenneth P Mitton
Journal:  Mol Vis       Date:  2010-02-17       Impact factor: 2.367
  3 in total

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