Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

Wolfram Syndrome: New Mutations, Different Phenotype

(2012) Concetta Aloi et al.   PLoS One

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Nanna D. Rendtorff et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diabetes and Neurodegeneration in Wolfram Syndrome: A multicenter study of phenotype and genotype

(2011) J. Rohayem et al.   DIABETES CARE

Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India

(2011) M. A. Ganie et al.   DIABETIC MEDICINE

Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic  -cells

(2011) M. Hatanaka et al.   HUMAN MOLECULAR GENETICS

The E3 Ligase Smurf1 Regulates Wolfram Syndrome Protein Stability at the Endoplasmic Reticulum

(2011) Xing Guo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neurologic features and genotype-phenotype correlation in Wolfram syndrome

(2010) Annabelle Chaussenot et al.   ANNALS OF NEUROLOGY

Paediatric primary care in Europe: variation between countries

(2010) D. van Esso et al.   ARCHIVES OF DISEASE IN CHILDHOOD

NMD: RNA biology meets human genetic medicine

(2010) Madhuri Bhuvanagiri et al.   BIOCHEMICAL JOURNAL

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells

(2010) Sonya G. Fonseca et al.   JOURNAL OF CLINICAL INVESTIGATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Nonsense-mediated mRNA decay (NMD) mechanisms

(2009) Saverio Brogna et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Candidate gene studies reveal that the WFS1 gene joins the expanding list of novel type 2 diabetes genes

(2008) J. Wasson et al.   DIABETOLOGIA

Common Type 2 Diabetes Risk Gene Variants Associate with Gestational Diabetes

(2008) Jeannet Lauenborg et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM