Literature DB >> 14569126

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.

S L Ness, T Ben-Yosef, A Bar-Lev, A C Madeo, C C Brewer, K B Avraham, R Kornreich, R J Desnick, J P Willner, T B Friedman, A J Griffith.   

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Year:  2003        PMID： 14569126      PMCID： PMC1735287          DOI： 10.1136/jmg.40.10.767

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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Review 1.  Genetics and pathological mechanisms of Usher syndrome.

Authors:  Denise Yan; Xue Z Liu
Journal:  J Hum Genet       Date:  2010-04-09       Impact factor: 3.172

2.  Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Authors:  Terri L McGee; Babak Jian Seyedahmadi; Meredith O Sweeney; Thaddeus P Dryja; Eliot L Berson
Journal:  J Med Genet       Date:  2010-05-27       Impact factor: 6.318

3.  A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Authors:  Inga Ebermann; Hendrik P N Scholl; Peter Charbel Issa; Elvir Becirovic; Jürgen Lamprecht; Bernhard Jurklies; José M Millán; Elena Aller; Diana Mitter; Hanno Bolz
Journal:  Hum Genet       Date:  2006-12-15       Impact factor: 4.132

Review 4.  Genetic modifiers and oligogenic inheritance.

Authors:  Maria Kousi; Nicholas Katsanis
Journal:  Cold Spring Harb Perspect Med       Date:  2015-06-01       Impact factor: 6.915

5.  Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.

Authors:  Katarina Stingl; Anne Kurtenbach; Gesa Hahn; Christoph Kernstock; Stephanie Hipp; Ditta Zobor; Susanne Kohl; Crystel Bonnet; Saddek Mohand-Saïd; Isabelle Audo; Ana Fakin; Marko Hawlina; Francesco Testa; Francesca Simonelli; Christine Petit; Jose-Alain Sahel; Eberhart Zrenner
Journal:  Doc Ophthalmol       Date:  2019-07-02       Impact factor: 2.379

6.  Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Authors:  Stuart A Scott; Lisa Edelmann; Liu Liu; Minjie Luo; Robert J Desnick; Ruth Kornreich
Journal:  Hum Mutat       Date:  2010-11       Impact factor: 4.878

7.  Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

Authors:  Mounira Hmani-Aifa; Zeineb Benzina; Fareeha Zulfiqar; Houria Dhouib; Amber Shahzadi; Abdelmonem Ghorbel; Ahmed Rebaï; Peter Söderkvist; Sheikh Riazuddin; William J Kimberling; Hammadi Ayadi
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246

8.  Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Authors:  Denise Yan; Xiaomei Ouyang; D Michael Patterson; Li Lin Du; Samuel G Jacobson; Xue-Zhong Liu
Journal:  J Hum Genet       Date:  2009-10-30       Impact factor: 3.172

9.  CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development.

Authors:  Scott F Geller; Karen I Guerin; Meike Visel; Aaron Pham; Edwin S Lee; Amiel A Dror; Karen B Avraham; Toshinori Hayashi; Catherine A Ray; Thomas A Reh; Olivia Bermingham-McDonogh; William J Triffo; Shaowen Bao; Juha Isosomppi; Hanna Västinsalo; Eeva-Marja Sankila; John G Flannery
Journal:  PLoS Genet       Date:  2009-08-14       Impact factor: 5.917

10.  Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

Authors:  Juha Isosomppi; Hanna Västinsalo; Scott F Geller; Elise Heon; John G Flannery; Eeva-Marja Sankila
Journal:  Mol Vis       Date:  2009-09-08       Impact factor: 2.367
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