Literature DB >> 24332535

CABP4 mutations do not cause congenital stationary night blindness.

Arif O Khan1.   

Abstract

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Year:  2013        PMID： 24332535     DOI： 10.1016/j.ophtha.2013.11.005

Source DB:  PubMed          Journal:  Ophthalmology        ISSN： 0161-6420            Impact factor:   12.079


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  4 in total

1.  Retinal findings in a patient of French ancestry with CABP4-related retinal disease.

Authors:  Vasily Mikhaïlovitch Smirnov; Christina Zeitz; Nagasamy Soumittra; Isabelle Audo; Sabine Defoort-Dhellemmes
Journal:  Doc Ophthalmol       Date:  2018-03-10       Impact factor: 2.379

2.  Lack of CaBP1/Caldendrin or CaBP2 Leads to Altered Ganglion Cell Responses.

Authors:  Raunak Sinha; Amy Lee; Fred Rieke; Françoise Haeseleer
Journal:  eNeuro       Date:  2016-10-28

3.  Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.

Authors:  Marianne N Hove; Kevser Z Kilic-Biyik; Alana Trotter; Karen Grønskov; Birgit Sander; Michael Larsen; Joseph Carroll; Torben Bech-Hansen; Thomas Rosenberg
Journal:  Invest Ophthalmol Vis Sci       Date:  2016-12-01       Impact factor: 4.799

4.  Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Authors:  Sabrina Mechaussier; Basamat Almoallem; Christina Zeitz; Kristof Van Schil; Laila Jeddawi; Jo Van Dorpe; Alfredo Dueñas Rey; Christel Condroyer; Olivier Pelle; Michel Polak; Nathalie Boddaert; Nadia Bahi-Buisson; Mara Cavallin; Jean-Louis Bacquet; Alexandra Mouallem-Bézière; Olivia Zambrowski; José Alain Sahel; Isabelle Audo; Josseline Kaplan; Jean-Michel Rozet; Elfride De Baere; Isabelle Perrault
Journal:  Am J Hum Genet       Date:  2020-05-28       Impact factor: 11.025
  4 in total

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