Literature DB >> 10874321

A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy.

E M Sankila1, T H Joensuu, R H Hämäläinen, N Raitanen, O Valle, J Ignatius, B Cormand.   

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Year:  2000        PMID： 10874321     DOI： 10.1002/1098-1004(200007)16:1<94::AID-HUMU25>3.0.CO;2-T

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  5 in total

1.  Mutation discovered in a feline model of human congenital retinal blinding disease.

Authors:  Marilyn Menotti-Raymond; Koren Holland Deckman; Victor David; Jaimie Myrkalo; Stephen J O'Brien; Kristina Narfström
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-01-06       Impact factor: 4.799

2.  Ocular findings in a Japanese family with an Arg41Trp mutation of the CRX gene.

Authors:  Toshitaka Itabashi; Yuko Wada; Hajime Sato; Hiroshi Kunikata; Miyuki Kawamura; Makoto Tamai
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2003-06-18       Impact factor: 3.117

Review 3.  Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies.

Authors:  Nicholas M Tran; Shiming Chen
Journal:  Dev Dyn       Date:  2014-06-27       Impact factor: 3.780

4.  Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Authors:  Nicole Weisschuh; Anja K Mayer; Tim M Strom; Susanne Kohl; Nicola Glöckle; Max Schubach; Sten Andreasson; Antje Bernd; David G Birch; Christian P Hamel; John R Heckenlively; Samuel G Jacobson; Christina Kamme; Ulrich Kellner; Erdmute Kunstmann; Pietro Maffei; Charlotte M Reiff; Klaus Rohrschneider; Thomas Rosenberg; Günther Rudolph; Rita Vámos; Balázs Varsányi; Richard G Weleber; Bernd Wissinger
Journal:  PLoS One       Date:  2016-01-14       Impact factor: 3.240

5.  Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Authors:  Dae Joong Ma; Hyun-Seob Lee; Kwangsoo Kim; Seongmin Choi; Insoon Jang; Seo-Ho Cho; Chang Ki Yoon; Eun Kyoung Lee; Hyeong Gon Yu
Journal:  BMC Med Genomics       Date:  2021-03-10       Impact factor: 3.063
  5 in total

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