Literature DB >> 25521520

Clinical heterogeneity in a family with mutations in USH2A.

Eva Lenassi1, Anthony G Robson2, Linda M Luxon3, Maria Bitner-Glindzicz4, Andrew R Webster2.   

Abstract

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Year:  2015        PMID： 25521520     DOI： 10.1001/jamaophthalmol.2014.5163

Source DB:  PubMed          Journal:  JAMA Ophthalmol        ISSN： 2168-6165            Impact factor:   7.389


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  5 in total

1.  Unanticipated prognosis for a patient with type 2 Usher syndrome.

Authors:  Chloe M Vezinaw; Gerald A Fishman; John Chiang
Journal:  Doc Ophthalmol       Date:  2019-02-22       Impact factor: 2.379

Review 2.  A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.

Authors:  F S Sorrentino; C E Gallenga; C Bonifazzi; P Perri
Journal:  Eye (Lond)       Date:  2016-08-26       Impact factor: 3.775

3.  Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Authors:  Christine Neuhaus; Tobias Eisenberger; Christian Decker; Sandra Nagl; Cornelia Blank; Markus Pfister; Ingo Kennerknecht; Cornelie Müller-Hofstede; Peter Charbel Issa; Raoul Heller; Bodo Beck; Klaus Rüther; Diana Mitter; Klaus Rohrschneider; Ute Steinhauer; Heike M Korbmacher; Dagmar Huhle; Solaf M Elsayed; Hesham M Taha; Shahid M Baig; Heidi Stöhr; Markus Preising; Susanne Markus; Fabian Moeller; Birgit Lorenz; Kerstin Nagel-Wolfrum; Arif O Khan; Hanno J Bolz
Journal:  Mol Genet Genomic Med       Date:  2017-07-06       Impact factor: 2.183

4.  Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments.

Authors:  Alix Trouillet; Elisabeth Dubus; Julie Dégardin; Amrit Estivalet; Ivana Ivkovic; David Godefroy; Diego García-Ayuso; Manuel Simonutti; Iman Sahly; José A Sahel; Aziz El-Amraoui; Christine Petit; Serge Picaud
Journal:  Sci Rep       Date:  2018-01-31       Impact factor: 4.379

Review 5.  Usher syndrome: clinical features, molecular genetics and advancing therapeutics.

Authors:  Maria Toms; Waheeda Pagarkar; Mariya Moosajee
Journal:  Ther Adv Ophthalmol       Date:  2020-09-17
  5 in total

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