Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype
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Title
Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype
Authors
Keywords
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Journal
GENETICS IN MEDICINE
Volume 15, Issue 7, Pages 497-506
Publisher
Springer Nature
Online
2013-02-22
DOI
10.1038/gim.2012.180
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Related references
Note: Only part of the references are listed.- Wolfram Syndrome: New Mutations, Different Phenotype
- (2012) Concetta Aloi et al. PLoS One
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- 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
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