Literature DB >> 27222289

Clinical utility gene card for: Wolfram syndrome.

Mariya Moosajee1,2,3, Patrick Yu-Wai-Man2,3,4, Cécile Rouzier5, Maria Bitner-Glindzicz1,6, Richard Bowman1,7.   

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Year:  2016        PMID： 27222289      PMCID： PMC5110049          DOI： 10.1038/ejhg.2016.49

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  25 in total

1.  The mitochondrial genome in Wolfram syndrome.

Authors:  T G Barrett; M Scott-Brown; A Seller; A Bednarz; K Poulton; J Poulton
Journal:  J Med Genet       Date:  2000-06       Impact factor: 6.318

2.  Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?

Authors:  F C Fraser; T Gunn
Journal:  J Med Genet       Date:  1977-06       Impact factor: 6.318

3.  Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.

Authors:  Maurizio Rondinelli; Francesca Novara; Valeria Calcaterra; Orsetta Zuffardi; Stefano Genovese
Journal:  Acta Diabetol       Date:  2014-11-05       Impact factor: 4.280

4.  The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy.

Authors:  Najla Mezghani; Mouna Mnif; Emna Mkaouar-Rebai; Nozha Kallel; Ikhlass Haj Salem; Nadia Charfi; Mohamed Abid; Faiza Fakhfakh
Journal:  Biochem Biophys Res Commun       Date:  2011-06-23       Impact factor: 3.575

5.  Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.

Authors:  Xiaohui Bai; Huaiqing Lv; Fengguo Zhang; Jinzhi Liu; Zhaomin Fan; Lei Xu; Yuhang Han; Renjie Chai; Jianfeng Li; Haibo Wang
Journal:  Am J Med Genet A       Date:  2014-09-23       Impact factor: 2.802

6.  Neurologic features and genotype-phenotype correlation in Wolfram syndrome.

Authors:  Annabelle Chaussenot; Sylvie Bannwarth; Cecile Rouzier; Bernard Vialettes; Samira Ait El Mkadem; Brigitte Chabrol; Aline Cano; Pierre Labauge; Véronique Paquis-Flucklinger
Journal:  Ann Neurol       Date:  2010-12-28       Impact factor: 10.422

7.  Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

Authors:  Nanna D Rendtorff; Marianne Lodahl; Houda Boulahbel; Ida R Johansen; Arti Pandya; Katherine O Welch; Virginia W Norris; Kathleen S Arnos; Maria Bitner-Glindzicz; Sarah B Emery; Marilyn B Mets; Toril Fagerheim; Kristina Eriksson; Lars Hansen; Helene Bruhn; Claes Möller; Sture Lindholm; Stefan Ensgaard; Marci M Lesperance; Lisbeth Tranebjaerg
Journal:  Am J Med Genet A       Date:  2011-04-28       Impact factor: 2.802

8.  Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene.

Authors:  R Valéro; S Bannwarth; S Roman; V Paquis-Flucklinger; B Vialettes
Journal:  Diabet Med       Date:  2008-06       Impact factor: 4.359

9.  A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.

Authors:  Sami Amr; Cindy Heisey; Min Zhang; Xia-Juan Xia; Kathryn H Shows; Kamel Ajlouni; Arti Pandya; Leslie S Satin; Hatem El-Shanti; Rita Shiang
Journal:  Am J Hum Genet       Date:  2007-08-20       Impact factor: 11.025

10.  A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.

Authors:  Enza Mozzillo; Maurizio Delvecchio; Massimo Carella; Elvira Grandone; Pietro Palumbo; Alessandro Salina; Concetta Aloi; Pietro Buono; Antonella Izzo; Giuseppe D'Annunzio; Gennaro Vecchione; Ada Orrico; Rita Genesio; Francesca Simonelli; Adriana Franzese
Journal:  BMC Med Genet       Date:  2014-07-24       Impact factor: 2.103
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  3 in total

1.  Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Authors:  Neringa Jurkute; Anna Majander; Richard Bowman; Marcela Votruba; Stephen Abbs; James Acheson; Guy Lenaers; Patrizia Amati-Bonneau; Mariya Moosajee; Gavin Arno; Patrick Yu-Wai-Man
Journal:  Eur J Hum Genet       Date:  2018-08-24       Impact factor: 4.246

2.  Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.

Authors:  Giuseppina Salzano; Luciana Rigoli; Mariella Valenzise; Roberto Chimenz; Stefano Passanisi; Fortunato Lombardo
Journal:  Int J Environ Res Public Health       Date:  2022-01-04       Impact factor: 3.390

3.  Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings.

Authors:  Xin Zhang; Yue Xie; Ke Xu; Haoyu Chang; Xiaohui Zhang; Yang Li
Journal:  Invest Ophthalmol Vis Sci       Date:  2022-09-01       Impact factor: 4.925
  3 in total

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