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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. 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

3. 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

4. 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

5. Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation.

Authors: Misty Ruppert; John Pyun; K V Chalam; David Sierpina
Journal: Case Rep Genet Date: 2020-12-02

Review 6. Finding and interpreting genetic variations that are important to ophthalmologists.

Authors: Edwin M Stone
Journal: Trans Am Ophthalmol Soc Date: 2003

7. Structural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDS.

Authors: Dibyendu Chakraborty; Karla K Rodgers; Shannon M Conley; Muna I Naash
Journal: FEBS J Date: 2012-11-22 Impact factor: 5.542

8. Autosomal dominant cone-rod dystrophy with negative electroretinogram.

Authors: N Fujii; T Shiono; Y Wada; M Nakazawa; M Tamai; N Yamada
Journal: Br J Ophthalmol Date: 1995-10 Impact factor: 4.638

9. Late-onset cone photoreceptor degeneration induced by R172W mutation in Rds and partial rescue by gene supplementation.

Authors: Shannon Conley; May Nour; Steven J Fliesler; Muna I Naash
Journal: Invest Ophthalmol Vis Sci Date: 2007-12 Impact factor: 4.799

10. Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.

Authors: Johanna Pach; Susanne Kohl; Florian Gekeler; Ditta Zobor
Journal: Mol Vis Date: 2013-06-13 Impact factor: 2.367

10 in total