Literature DB >> 11594966

Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene.

M Nakamura1, S Ito, H Terasaki, Y Miyake.   

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Year:  2001        PMID： 11594966

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  7 in total

1.  X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.

Authors:  Kristen Bowles; Catherine Cukras; Amy Turriff; Yuri Sergeev; Susan Vitale; Ronald A Bush; Paul A Sieving
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-11-29       Impact factor: 4.799

2.  ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.

Authors:  Agnes B Renner; Ulrich Kellner; Britta Fiebig; Elke Cropp; Michael H Foerster; Bernhard H F Weber
Journal:  Doc Ophthalmol       Date:  2007-11-07       Impact factor: 2.379

3.  Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Authors:  Y V Sergeev; R C Caruso; M R Meltzer; N Smaoui; I M MacDonald; P A Sieving
Journal:  Hum Mol Genet       Date:  2010-01-08       Impact factor: 6.150

4.  Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis.

Authors:  Britt A Johnson; Natsuyo Aoyama; Nicole H Friedell; Sakae Ikeda; Akihiro Ikeda
Journal:  Genetics       Date:  2008-02-03       Impact factor: 4.562

5.  Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

Authors:  Yuri V Sergeev; Susan Vitale; Paul A Sieving; Ajoy Vincent; Anthony G Robson; Anthony T Moore; Andrew R Webster; Graham E Holder
Journal:  Hum Mol Genet       Date:  2013-07-11       Impact factor: 6.150

Review 6.  X-linked retinoschisis: an update.

Authors:  Stephen K Sikkink; Susmito Biswas; Neil R A Parry; Paulo E Stanga; Dorothy Trump
Journal:  J Med Genet       Date:  2006-12-15       Impact factor: 6.318

7.  Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.

Authors:  Leera D'Souza; Catherine Cukras; Christian Antolik; Candice Craig; Ji-Yun Lee; Hong He; Shibo Li; Nizar Smaoui; James F Hejtmancik; Paul A Sieving; Xinjing Wang
Journal:  Mol Vis       Date:  2013-11-07       Impact factor: 2.367
  7 in total

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