Literature DB >> 7519821

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

R M Feist, M F White, H Skalka, E M Stone.   

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Year:  1994        PMID： 7519821     DOI： 10.1016/s0002-9394(14)72913-7

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


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  13 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

2.  Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.

Authors:  Jacque L Duncan; Katherine E Talcott; Kavitha Ratnam; Sanna M Sundquist; Anya S Lucero; Shelley Day; Yuhua Zhang; Austin Roorda
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-03-01       Impact factor: 4.799

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

Authors:  F Testa; V Marini; S Rossi; E Interlandi; A Nesti; M Rinaldi; M Varano; C Garré; F Simonelli
Journal:  Br J Ophthalmol       Date:  2005-08       Impact factor: 4.638

4.  Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Authors:  Lori S Sullivan; Sara J Bowne; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Richard Alan Lewis; Charles A Garcia; Richard S Ruiz; Susan H Blanton; Hope Northrup; Anisa I Gire; Robyn Seaman; Hatice Duzkale; Catherine J Spellicy; Jingya Zhu; Suma P Shankar; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2006-07       Impact factor: 4.799

5.  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 6.  Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.

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

7.  Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Authors:  M M Sohocki; S P Daiger; S J Bowne; J A Rodriquez; H Northrup; J R Heckenlively; D G Birch; H Mintz-Hittner; R S Ruiz; R A Lewis; D A Saperstein; L S Sullivan
Journal:  Hum Mutat       Date:  2001       Impact factor: 4.878

8.  Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene.

Authors:  Shahrokh C Khani; Athanasios J Karoukis; Joyce E Young; Rajesh Ambasudhan; Tracy Burch; Richard Stockton; Richard Alan Lewis; Lori S Sullivan; Stephen P Daiger; Elias Reichel; Radha Ayyagari
Journal:  Invest Ophthalmol Vis Sci       Date:  2003-08       Impact factor: 4.799

9.  Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.

Authors:  Camiel J F Boon; Mary J van Schooneveld; Anneke I den Hollander; Janneke J C van Lith-Verhoeven; Marijke N Zonneveld-Vrieling; Thomas Theelen; Frans P M Cremers; Carel B Hoyng; B Jeroen Klevering
Journal:  Br J Ophthalmol       Date:  2007-05-15       Impact factor: 4.638

10.  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
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