Literature DB >> 8251014

A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea.

B E Nichols1, A V Drack, K Vandenburgh, A E Kimura, V C Sheffield, E M Stone.   

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Year:  1993        PMID： 8251014     DOI： 10.1093/hmg/2.5.601

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  8 in total

1.  RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

Authors:  S Kohl; M Christ-Adler; E Apfelstedt-Sylla; U Kellner; A Eckstein; E Zrenner; B Wissinger
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

Review 2.  Molecular genetics of macular dystrophies.

Authors:  K Zhang; H Yeon; M Han; L A Donoso
Journal:  Br J Ophthalmol       Date:  1996-11       Impact factor: 4.638

3.  Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.

Authors:  B P Leroy; A Kailasanathan; J-J De Laey; G C M Black; F D C Manson
Journal:  Br J Ophthalmol       Date:  2006-08-17       Impact factor: 4.638

Review 4.  Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.

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

5.  Butterfly-shaped pigment dystrophy of the fovea associated with subretinal neovascularization.

Authors:  F Marano; A F Deutman; A L Aandekerk
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1996-04       Impact factor: 3.117

6.  The effect of peripherin/rds haploinsufficiency on rod and cone photoreceptors.

Authors:  T Cheng; N S Peachey; S Li; Y Goto; Y Cao; M I Naash
Journal:  J Neurosci       Date:  1997-11-01       Impact factor: 6.167

7.  Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.

Authors:  B E Nichols; R Bascom; M Litt; R McInnes; V C Sheffield; E M Stone
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

Review 8.  The genetics of inherited macular dystrophies.

Authors:  M Michaelides; D M Hunt; A T Moore
Journal:  J Med Genet       Date:  2003-09       Impact factor: 6.318
  8 in total

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