Literature DB >> 17295148

A novel truncating Rs1 mutation associated with X-linked juvenile retinoschisis.

Zi-Bing Jin, Nobuhisa Nao-I.   

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Year:  2007        PMID： 17295148     DOI： 10.1007/s10384-006-0387-0

Source DB:  PubMed          Journal:  Jpn J Ophthalmol        ISSN： 0021-5155            Impact factor:   2.447


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  4 in total

1.  Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.

Authors:  T Wang; A Zhou; C T Waters; E O'Connor; R J Read; D Trump
Journal:  Br J Ophthalmol       Date:  2006-01       Impact factor: 4.638

2.  Positional cloning of the gene associated with X-linked juvenile retinoschisis.

Authors:  C G Sauer; A Gehrig; R Warneke-Wittstock; A Marquardt; C C Ewing; A Gibson; B Lorenz; B Jurklies; B H Weber
Journal:  Nat Genet       Date:  1997-10       Impact factor: 38.330

3.  Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure.

Authors:  Bernhard H F Weber; Heinrich Schrewe; Laurie L Molday; Andrea Gehrig; Karen L White; Mathias W Seeliger; Gesine B Jaissle; Christoph Friedburg; Ernst Tamm; Robert S Molday
Journal:  Proc Natl Acad Sci U S A       Date:  2002-04-30       Impact factor: 11.205

4.  X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.

Authors:  D Pimenides; N D L George; J R W Yates; K Bradshaw; S A Roberts; A T Moore; D Trump
Journal:  J Med Genet       Date:  2005-06       Impact factor: 6.318
  4 in total
  1 in total

1.  Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.

Authors:  Anna Skorczyk; Maciej R Krawczyński
Journal:  Mol Vis       Date:  2012-12-13       Impact factor: 2.367
  1 in total

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