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There are 3842 results for: content related to: Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum

  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

    Version of Record online : 25 AUG 2010, DOI: 10.1111/j.1399-0004.2010.01522.x

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

    Pediatric Diabetes

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

    Version of Record online : 14 DEC 2009, DOI: 10.1111/j.1399-5448.2009.00518.x

  3. 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

    Version of Record online : 7 AUG 2008, DOI: 10.1002/ajmg.a.32449

  4. 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

    Version of Record online : 13 JUN 2007, DOI: 10.1002/ajmg.a.31809

  5. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

    Human Mutation

    Volume 22, Issue 4, October 2003, Pages: 275–287, Kim Cryns, Theru A. Sivakumaran, Jody M.W. Van den Ouweland, Ronald J.E. Pennings, Cor W.R.J. Cremers, Kris Flothmann, Terry-Lynn Young, Richard J.H. Smith, Marci M. Lesperance and Guy Van Camp

    Version of Record online : 26 AUG 2003, DOI: 10.1002/humu.10258

  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

    Version of Record online : 8 JUL 2008, DOI: 10.1002/cne.21734

  7. Genotype phenotype correlations for hearing impairment: Approaches to management

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 514–523, L. H. Hoefsloot, I. Feenstra, H. P. M. Kunst and H. Kremer

    Version of Record online : 18 FEB 2014, DOI: 10.1111/cge.12339

  8. 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

    Version of Record online : 16 DEC 2004, DOI: 10.1002/humu.9300

  9. 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

    Version of Record online : 13 APR 2004, DOI: 10.1111/j.1399-0004.2004.00249.x

  10. You have free access to this content
    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

    Version of Record online : 12 JUN 2008, DOI: 10.1002/cne.21777

  11. Association of aggression with a novel microRNA binding site polymorphism in the wolframin gene

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 4, June 2013, Pages: 404–412, Reka Kovacs-Nagy, Zsuzsanna Elek, Anna Szekely, Tibor Nanasi, Maria Sasvari-Szekely and Zsolt Ronai

    Version of Record online : 3 MAY 2013, DOI: 10.1002/ajmg.b.32157

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

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 430–439, 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

    Version of Record online : 6 AUG 2014, DOI: 10.1111/cge.12437

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    WFS1 protein modulates the free Ca2+ concentration in the endoplasmic reticulum

    FEBS Letters

    Volume 580, Issue 24, October 16, 2006, Pages: 5635–5640, Daisuke Takei, Hisamitsu Ishihara, Suguru Yamaguchi, Takahiro Yamada, Akira Tamura, Hideki Katagiri, Yoshio Maruyama and Yoshitomo Oka

    Version of Record online : 15 SEP 2006, DOI: 10.1016/j.febslet.2006.09.007

  14. 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

    Volume 93, Issue 3, March 2015, Pages: 530–537, S. Sütt, A. Altpere, R. Reimets, T. Visnapuu, M. Loomets, S. Raud, T. Salum, R. Mahlapuu, C. Kairane, M. Zilmer and E. Vasar

    Version of Record online : 10 NOV 2014, DOI: 10.1002/jnr.23508

  15. 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

    Version of Record online : 28 DEC 2010, DOI: 10.1002/ana.22160

  16. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

    Human Mutation

    Volume 17, Issue 5, May 2001, Pages: 357–367, Farhat Khanim, Jeremy Kirk, Farida Latif and Timothy G. Barrett

    Version of Record online : 16 APR 2001, DOI: 10.1002/humu.1110

  17. You have free access to this content
    Genetics of Hearing and Deafness

    The Anatomical Record

    Volume 295, Issue 11, November 2012, Pages: 1812–1829, Simon Angeli, Xi Lin and Xue Zhong Liu

    Version of Record online : 8 OCT 2012, DOI: 10.1002/ar.22579

    Corrected by:

    Corrigendum: Corrigendum

    Vol. 298, Issue 11, 1815, Version of Record online: 14 OCT 2015

  18. 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

    Version of Record online : 28 APR 2011, DOI: 10.1002/ajmg.a.33970

  19. 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

    Version of Record online : 25 OCT 2004, DOI: 10.1002/pd.982

  20. Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene

    Diabetic Medicine

    Volume 21, Issue 3, March 2004, Pages: 218–222, Z. M. Larsen, J. Johannesen, O. P. Kristiansen, J. Nerup, F. Pociot and The Danish IDDM Epidemiology and Genetics Group and The Danish Study Group of IDDM in Childhood

    Version of Record online : 17 OCT 2003, DOI: 10.1046/j.1464-5491.2003.01088.x