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There are 4763 results for: content related to: Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

  1. Wolfram syndrome and WFS1 gene

    Clinical Genetics

    Volume 79, Issue 2, February 2011, Pages: 103–117, L Rigoli, F Lombardo and C Di Bella

    Article first published online : 25 AUG 2010, DOI: 10.1111/j.1399-0004.2010.01522.x

  2. Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 17, 1 September 2008, Pages: 2258–2265, Michael S. Hildebrand, Jessica L. Sorensen, Maren Jensen, William J. Kimberling and Richard J.H. Smith

    Article first published online : 7 AUG 2008, DOI: 10.1002/ajmg.a.32449

  3. You have free access to this content
    Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum

    The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology

    Volume 288A, Issue 4, April 2006, Pages: 370–381, Richard K. Mchugh and Rick A. Friedman

    Article first published online : 20 MAR 2006, DOI: 10.1002/ar.a.20297

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

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1298–1313, 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 and Lisbeth Tranebjaerg

    Article first published online : 28 APR 2011, DOI: 10.1002/ajmg.a.33970

  5. Clinical application of genetic testing for deafness

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 1, 15 September 2004, Pages: 8–12, Richard J.H. Smith

    Article first published online : 21 APR 2004, DOI: 10.1002/ajmg.a.30053

  6. Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system

    Journal of Comparative Neurology

    Volume 510, Issue 1, 1 September 2008, Pages: 1–23, June Kawano, Yukio Tanizawa and Koh Shinoda

    Article first published online : 8 JUL 2008, DOI: 10.1002/cne.21734

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

    American Journal of Medical Genetics Part A

    Volume 164, Issue 12, December 2014, Pages: 3052–3060, Xiaohui Bai, Huaiqing Lv, Fengguo Zhang, Jinzhi Liu, Zhaomin Fan, Lei Xu, Yuhang Han, Renjie Chai, Jianfeng Li and Haibo Wang

    Article first published online : 23 SEP 2014, DOI: 10.1002/ajmg.a.36760

  8. Identification of novel mutations in WFS1 and genotype–phenotype correlation in Wolfram syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 14, 15 July 2007, Pages: 1605–1612, A. Cano, C. Rouzier, S. Monnot, B. Chabrol, J. Conrath, P. Lecomte, B. Delobel, P. Boileau, R. Valero, V. Procaccio, V. Paquis-Flucklinger and B. Vialettes

    Article first published online : 13 JUN 2007, DOI: 10.1002/ajmg.a.31809

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    Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome

    Journal of Comparative Neurology

    Volume 509, Issue 6, 20 August 2008, Pages: 642–660, Hendrik Luuk, Sulev Koks, Mario Plaas, Jens Hannibal, Jens F. Rehfeld and Eero Vasar

    Article first published online : 12 JUN 2008, DOI: 10.1002/cne.21777

  10. Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists

    Pediatric Diabetes

    Volume 11, Issue 1, February 2010, Pages: 28–37, Sharath Kumar

    Article first published online : 14 DEC 2009, DOI: 10.1111/j.1399-5448.2009.00518.x

  11. Novel mutations of wolframin: a report with a look at the protein structure

    Clinical Genetics

    Volume 79, Issue 1, January 2011, Pages: 96–99, A Alimadadi, A Ebrahim-Habibi, F Abbasi, MM Amoli, F-A Sayahpour and B Larijani

    Article first published online : 9 DEC 2010, DOI: 10.1111/j.1399-0004.2010.01511.x

  12. You have free access to this content
    Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene

    Human Mutation

    Volume 25, Issue 1, January 2005, Pages: 99–100, Fabienne Giuliano, Sylvie Bannwarth, Sophie Monnot, Aline Cano, Brigitte Chabrol, Bernard Vialettes, Bruno Delobel and Veronique Paquis-Flucklinger

    Article first published online : 16 DEC 2004, DOI: 10.1002/humu.9300

  13. Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders

    Clinical Genetics

    A. Chaussenot, C. Rouzier, M. Quere, M. Plutino, S. Ait-El-Mkadem, S. Bannwarth, M. Barth, H. Dollfus, P. Charles, M. Nicolino, B. Chabrol, B. Vialettes and V. Paquis-Flucklinger

    Article first published online : 6 AUG 2014, DOI: 10.1111/cge.12437

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

    Diabetic Medicine

    Volume 25, Issue 6, June 2008, Pages: 657–661, R. Valéro, * S. Bannwarth, S. Roman, V. Paquis-Flucklinger and B. Vialettes*

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1464-5491.2008.02448.x

  15. First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene

    Prenatal Diagnosis

    Volume 24, Issue 10, October 2004, Pages: 787–789, Enric Domènech, Helena Kruyer, Carolina Gómez, Maria Teresa Calvo and Virginia Nunes

    Article first published online : 25 OCT 2004, DOI: 10.1002/pd.982

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    XBP1 induces WFS1 through an endoplasmic reticulum stress response element-like motif in SH-SY5Y cells

    Journal of Neurochemistry

    Volume 97, Issue 2, April 2006, Pages: 545–555, Chihiro Kakiuchi, Mizuho Ishiwata, Akiko Hayashi and Tadafumi Kato

    Article first published online : 15 MAR 2006, DOI: 10.1111/j.1471-4159.2006.03772.x

  17. Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families

    Clinical Genetics

    Volume 65, Issue 6, June 2004, Pages: 463–469, E Domènech, M Gómez-Zaera and V Nunes

    Article first published online : 13 APR 2004, DOI: 10.1111/j.1399-0004.2004.00249.x

  18. Wfs1-deficient animals have brain-region-specific changes of Na+, K+-ATPase activity and mRNA expression of α1 and β1 subunits

    Journal of Neuroscience Research

    S. Sütt, A. Altpere, R. Reimets, T. Visnapuu, M. Loomets, S. Raud, T. Salum, R. Mahlapuu, C. Kairane, M. Zilmer and E. Vasar

    Article first published online : 10 NOV 2014, DOI: 10.1002/jnr.23508

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    Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies

    The Laryngoscope

    Volume 120, Issue 1, January 2010, Pages: 166–171, Taro Fujikawa, Yoshihiro Noguchi, Taku Ito, Masatoki Takahashi and Ken Kitamura

    Article first published online : 29 OCT 2009, DOI: 10.1002/lary.20691

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

    Annals of Neurology

    Volume 69, Issue 3, March 2011, Pages: 501–508, Annabelle Chaussenot, Sylvie Bannwarth, Cecile Rouzier, Bernard Vialettes, Samira Ait El Mkadem, Brigitte Chabrol, Aline Cano, Pierre Labauge and Véronique Paquis-Flucklinger

    Article first published online : 28 DEC 2010, DOI: 10.1002/ana.22160