Literature DB >> 23572118

Novel mutation in BEST1 associated with retinoschisis.

Ruwan A Silva1, Audina M Berrocal, Byron L Lam, Thomas A Albini.   

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Year:  2013        PMID： 23572118     DOI： 10.1001/jamaophthalmol.2013.2047

Source DB:  PubMed          Journal:  JAMA Ophthalmol        ISSN： 2168-6165            Impact factor:   7.389


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  3 in total

1.  Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases.

Authors:  Hassan Khojasteh; Mohsen Azarmina; Nazanin Ebrahimiadib; Narsis Daftarian; Hamid Riazi-Esfahani; Houra Naraghi; Hamideh Sabbaghi; Alireza Khodabande; Hooshang Faghihi; Afrooz Moghaddasi; Fatemeh Bazvand; Masoud Reza Manaviat; Hamid Ahmadieh; Narges Hassanpoor; Fatemeh Suri
Journal:  J Ophthalmol       Date:  2021-04-30       Impact factor: 1.909

2.  Retinoschisis and Norrie disease: a missing link.

Authors:  Rahini Rajendran; Dhandayuthapani Sudha; Subbulakshmi Chidambaram; Hemavathy Nagarajan; Umashankar Vetrivel; Jayamuruga Pandian Arunachalam
Journal:  BMC Res Notes       Date:  2021-05-26

3.  Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.

Authors:  Daiki Kubota; Kiyoko Gocho; Keiichiro Akeo; Sachiko Kikuchi; Michitaka Sugahara; Celso Soiti Matsumoto; Kei Shinoda; Atsushi Mizota; Kunihiko Yamaki; Hiroshi Takahashi; Shuhei Kameya
Journal:  Doc Ophthalmol       Date:  2016-04-12       Impact factor: 2.379
  3 in total

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