Literature DB >> 16024869

A novel mutation in the RDS gene in an Italian family with pattern dystrophy.

F Testa, V Marini, S Rossi, E Interlandi, A Nesti, M Rinaldi, M Varano, C Garré, F Simonelli.   

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Year:  2005        PMID： 16024869      PMCID： PMC1772774          DOI： 10.1136/bjo.2004.064188

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  10 in total

1.  Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg)

Authors:  R M Feist; M F White; H Skalka; E M Stone
Journal:  Am J Ophthalmol       Date:  1994-08-15       Impact factor: 5.258

2.  Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.

Authors:  S M Downes; F W Fitzke; G E Holder; A M Payne; D A Bessant; S S Bhattacharya; A C Bird
Journal:  Arch Ophthalmol       Date:  1999-10

3.  Cysteine residues of photoreceptor peripherin/rds: role in subunit assembly and autosomal dominant retinitis pigmentosa.

Authors:  A F Goldberg; C J Loewen; R S Molday
Journal:  Biochemistry       Date:  1998-01-13       Impact factor: 3.162

4.  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

5.  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

6.  Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation.

Authors:  S C Richards; D J Creel
Journal:  Retina       Date:  1995       Impact factor: 4.256

7.  A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy.

Authors:  Zhenglin Yang; Wei Lin; Darius M Moshfeghi; Sukanya Thirumalaichary; Xi Li; Li Jiang; Heidi Zhang; Sheng Zhang; Peter K Kaiser; Elias I Traboulsi; Kang Zhang
Journal:  Am J Ophthalmol       Date:  2003-02       Impact factor: 5.258

8.  Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy.

Authors:  M Fossarello; C Bertini; M S Galantuomo; A Cao; A Serra; M Pirastu
Journal:  Arch Ophthalmol       Date:  1996-04

9.  Patterned dystrophies of the retinal pigment epithelium.

Authors:  R C Hsieh; B S Fine; J S Lyons
Journal:  Arch Ophthalmol       Date:  1977-03

10.  Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene.

Authors:  R G Weleber; R E Carr; W H Murphey; V C Sheffield; E M Stone
Journal:  Arch Ophthalmol       Date:  1993-11
  10 in total
  4 in total

1.  Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.

Authors:  Akio Oishi; Kaoru Fujinami; Go Mawatari; Nobuhisa Naoi; Yasuhiro Ikeda; Shinji Ueno; Kazuki Kuniyoshi; Takaaki Hayashi; Hiroyuki Kondo; Atsushi Mizota; Kei Shinoda; Sentaro Kusuhara; Makoto Nakamura; Takeshi Iwata; Akitaka Tsujikawa; Kazushige Tsunoda
Journal:  Genes (Basel)       Date:  2021-11-18       Impact factor: 4.096

2.  PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.

Authors:  Manon H C A Peeters; Mubeen Khan; Anoek A M B Rooijakkers; Timo Mulders; Lonneke Haer-Wigman; Camiel J F Boon; Caroline C W Klaver; L Ingeborgh van den Born; Carel B Hoyng; Frans P M Cremers; Anneke I den Hollander; Claire-Marie Dhaenens; Rob W J Collin
Journal:  Hum Mutat       Date:  2021-09-20       Impact factor: 4.700

3.  PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.

Authors:  Rosa M Coco-Martin; Hortensia T Sanchez-Tocino; Carmen Desco; Ricardo Usategui-Martín; Juan J Tellería
Journal:  Genes (Basel)       Date:  2020-07-09       Impact factor: 4.096

4.  Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.

Authors:  Samuel P Strom; Yong-Qing Gao; Ariadna Martinez; Carolina Ortube; Zugen Chen; Stanley F Nelson; Steven Nusinowitz; Deborah B Farber; Michael B Gorin
Journal:  BMC Med Genet       Date:  2012-08-03       Impact factor: 2.103
  4 in total

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