Literature DB >> 17304551

X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.

Manuel Saldana1, Jenny Thompson, Elizabeth Monk, Dorothy Trump, Vernon Long, Eamonn Sheridan.   

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Year:  2007        PMID： 17304551     DOI： 10.1002/ajmg.a.31568

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

1.  Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype.

Authors:  Yang Liu; Junzo Kinoshita; Elena Ivanova; Duo Sun; Hong Li; Tara Liao; Jingtai Cao; Brent A Bell; Jacob M Wang; Yajun Tang; Susannah Brydges; Neal S Peachey; Botir T Sagdullaev; Carmelo Romano
Journal:  Hum Mol Genet       Date:  2019-09-15       Impact factor: 6.150

Review 2.  X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

Authors:  Robert S Molday; Ulrich Kellner; Bernhard H F Weber
Journal:  Prog Retin Eye Res       Date:  2012-01-03       Impact factor: 21.198

3.  Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis.

Authors:  Annalisa Nicoletti; Lucia Ziccardi; Paolo Enrico Maltese; Sabrina Benedetti; Orazio Palumbo; Michelina Rendina; Leonardo D'Agruma; Benedetto Falsini; Xinjing Wang; Matteo Bertelli
Journal:  Genet Test Mol Biomarkers       Date:  2016-12-20

4.  A case of X-linked retinoschisis with atypical fundus appearance.

Authors:  F Nasser; S Kohl; L Kuehlewein; B Wissinger; C D Obermaier; A Kurtenbach; E Zrenner
Journal:  Doc Ophthalmol       Date:  2019-04-20       Impact factor: 2.379

Review 5.  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

Review 6.  Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.

Authors:  Najiha Rahman; Michalis Georgiou; Kamron N Khan; Michel Michaelides
Journal:  Br J Ophthalmol       Date:  2019-11-08       Impact factor: 4.638
  6 in total

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