Literature DB >> 7990951

Human genetics. Silence speaks in spectrin.

W Gratzer.   

Abstract

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Year:  1994        PMID： 7990951     DOI： 10.1038/372620a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  5 in total

1.  Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

Authors:  T L McGee; M Devoto; J Ott; E L Berson; T P Dryja
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

Review 2.  Genetic factors modifying clinical expression of autosomal dominant RP.

Authors:  Stephen P Daiger; Suma P Shankar; Alice B Schindler; Lori S Sullivan; Sara J Bowne; Terri M King; E Warick Daw; Edwin M Stone; John R Heckenlively
Journal:  Adv Exp Med Biol       Date:  2006       Impact factor: 2.622

3.  Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

Authors:  Christopher A Chapleau; Jane Lane; Susan M Kirwin; Carolyn Schanen; Kathy M B Vinette; Danielle Stubbolo; Patrick MacLeod; Daniel G Glaze; Kathleen J Motil; Jeffrey L Neul; Steven A Skinner; Walter E Kaufmann; Alan K Percy
Journal:  Am J Med Genet A       Date:  2013-05-21       Impact factor: 2.802

4.  Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

Authors:  K Evans; M al-Maghtheh; F W Fitzke; A T Moore; M Jay; C F Inglehearn; G B Arden; A C Bird
Journal:  Br J Ophthalmol       Date:  1995-09       Impact factor: 4.638

5.  CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

Authors:  Giulia Venturini; Anna M Rose; Amna Z Shah; Shomi S Bhattacharya; Carlo Rivolta
Journal:  PLoS Genet       Date:  2012-11-08       Impact factor: 5.917
  5 in total

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