Literature DB >> 8357065

The prevalence of retinitis pigmentosa and congenital stationary night blindness in Israel.

M Rosner, L Hefetz, F A Abraham.   

Abstract

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Year:  1993        PMID： 8357065     DOI： 10.1016/s0002-9394(14)71358-3

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


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  8 in total

Review 1.  Fear of the dark in children: is stationary night blindness the cause?

Authors:  Sikander S Sidiki; Ruth Hamilton; Gordon N Dutton
Journal:  BMJ       Date:  2003-01-25

2.  Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.

Authors:  Nancy Huynh; Brett G Jeffrey; Amy Turriff; Paul A Sieving; Catherine A Cukras
Journal:  Ophthalmic Genet       Date:  2014-01-07       Impact factor: 1.803

3.  Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.

Authors:  Liron Dvir; Gassoub Srour; Rasmi Abu-Ras; Benjamin Miller; Stavit A Shalev; Tamar Ben-Yosef
Journal:  Am J Hum Genet       Date:  2010-07-22       Impact factor: 11.025

4.  Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

Authors:  Laurence H M Pierrache; Adva Kimchi; Rinki Ratnapriya; Lisa Roberts; Galuh D N Astuti; Alexey Obolensky; Avigail Beryozkin; Martha J H Tjon-Fo-Sang; Jose Schuil; Caroline C W Klaver; Ernie M H F Bongers; Lonneke Haer-Wigman; Nicoline Schalij; Martijn H Breuning; Gratia M Fischer; Eyal Banin; Raj S Ramesar; Anand Swaroop; L Ingeborgh van den Born; Dror Sharon; Frans P M Cremers
Journal:  Ophthalmology       Date:  2017-04-13       Impact factor: 12.079

5.  Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.

Authors:  Giulia Venturini; Hanna Koskiniemi-Kuendig; Shyana Harper; Eliot L Berson; Carlo Rivolta
Journal:  Genet Med       Date:  2014-09-25       Impact factor: 8.822

6.  A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.

Authors:  Yoel Hirsch; David A Zeevi; Byron L Lam; Sholem Y Scher; Rachel Bringer; Bitya Cherki; Cadina C Cohen; Hagit Muallem; John Pei-Wen Chiang; Madhulatha Pantrangi; Josef Ekstein; Martin M Johansson
Journal:  Hum Genome Var       Date:  2019-09-12

7.  Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

Authors:  Dror Sharon; Eyal Banin
Journal:  Mol Vis       Date:  2015-07-17       Impact factor: 2.367

8.  Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics.

Authors:  Virginie Dinet; Giuseppe D Ciccotosto; Kimberley Delaunay; Céline Borras; Isabelle Ranchon-Cole; Corinne Kostic; Michèle Savoldelli; Mohamed El Sanharawi; Laurent Jonet; Caroline Pirou; Na An; Marc Abitbol; Yvan Arsenijevic; Francine Behar-Cohen; Roberto Cappai; Frédéric Mascarelli
Journal:  Mol Brain       Date:  2016-06-08       Impact factor: 4.041
  8 in total

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