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There are 8548 results for: content related to: Germline mosaicism in keratitis–ichthyosis–deafness syndrome: pre-natal diagnosis in a familial lethal form

  1. DNA sequence analysis of GJB2, encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2401–2415, Hsiao-Yuan Tang, Ping Fang, Patricia A. Ward, Eric Schmitt, Sandra Darilek, Spiros Manolidis, John S. Oghalai, Benjamin B. Roa and Raye Lynn Alford

    Article first published online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31525

  2. Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26

    Clinical Genetics

    Volume 76, Issue 4, October 2009, Pages: 404–408, Ingo Todt, Juliette Mazereeuw-Hautier, Barbara Binder and Patrick J. Willems

    Article first published online : 24 SEP 2009, DOI: 10.1111/j.1399-0004.2009.01211.x

  3. Non-syndromic, autosomal-recessive deafness

    Clinical Genetics

    Volume 69, Issue 5, May 2006, Pages: 371–392, MB Petersen and PJ Willems

    Article first published online : 27 APR 2006, DOI: 10.1111/j.1399-0004.2006.00613.x

  4. Extending the Phenotypic Spectrum of Keratitis-Ichthyosis-Deafness Syndrome: Report of a Patient with GJB2 (G12R) Connexin 26 Mutation and Unusual Clinical Findings

    Pediatric Dermatology

    Volume 29, Issue 3, May/June 2012, Pages: 349–357, Tamara Lazic, Qiaoli Li, Michael Frank, Jouni Uitto and Linda H. Zhou

    Article first published online : 20 OCT 2011, DOI: 10.1111/j.1525-1470.2011.01425.x

  5. A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

    Clinical Genetics

    Volume 78, Issue 3, September 2010, Pages: 267–274, E Wilch, H Azaiez, RA Fisher, J Elfenbein, A Murgia, R Birkenhäger, H Bolz, SM Da Silva-Costa, I Del Castillo, T Haaf, L Hoefsloot, H Kremer, C Kubisch, C Le Marechal, A Pandya, EL Sartorato, E Schneider, G Van Camp, W Wuyts, RJH Smith and KH Friderici

    Article first published online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01387.x

  6. A novel dominant missense mutation – D179N – in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss

    Clinical Genetics

    Volume 63, Issue 6, June 2003, Pages: 516–521, P Primignani, P Castorina, F Sironi, C Curcio, U Ambrosetti and DA Coviello

    Article first published online : 3 JUN 2003, DOI: 10.1034/j.1399-0004.2003.00079.x

  7. Overview of skin diseases linked to connexin gene mutations

    International Journal of Dermatology

    Volume 53, Issue 2, February 2014, Pages: 192–205, Lyubov Avshalumova, Jordan Fabrikant and Angie Koriakos

    Article first published online : 15 MAY 2013, DOI: 10.1111/ijd.12062

  8. Cochleosaccular Dysplasia Associated With a Connexin 26 Mutation in Keratitis–Ichthyosis–Deafness Syndrome

    The Laryngoscope

    Volume 116, Issue 8, August 2006, Pages: 1404–1408, Andrew J. Griffith, Yandan Yang, Shannon P. Pryor, Hong-Joon Park, Ethylin Wang Jabs, Joseph B. Nadol Jr, Laura J. Russell, Daniel I. Wasserman, Gabriele Richard, Joe C. Adams and Saumil N. Merchant

    Article first published online : 2 JAN 2009, DOI: 10.1097/

  9. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome

    Clinical and Experimental Dermatology

    Volume 36, Issue 2, March 2011, Pages: 142–148, U. Koppelhus, L. Tranebjærg, G. Esberg, M. Ramsing, M. Lodahl, N. D. Rendtorff, H. V. Olesen and M. Sommerlund

    Article first published online : 16 SEP 2010, DOI: 10.1111/j.1365-2230.2010.03936.x

  10. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 2, 1 March 2005, Pages: 128–131, Andreas R. Janecke, Hans Christian Hennies, Barbara Günther, Gabriele Gansl, Josef Smolle, Elisabeth M. Messmer, Gerd Utermann and Olaf Rittinger

    Article first published online : 4 JAN 2005, DOI: 10.1002/ajmg.a.30515

  11. Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss

    Clinical Genetics

    Volume 64, Issue 1, July 2003, Pages: 65–69, O Uyguner, M Emiroglu, A Uzumcu, G Hafiz, A Ghanbari, N Baserer, M Yuksel-Apak and B Wollnik

    Article first published online : 6 JUN 2003, DOI: 10.1034/j.1399-0004.2003.00101.x

  12. A large cohort study of GJB2 mutations in Japanese hearing loss patients

    Clinical Genetics

    Volume 78, Issue 5, November 2010, Pages: 464–470, K Tsukada, S Nishio, S Usami and the Deafness Gene Study Consortium

    Article first published online : 23 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01407.x

  13. Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 22, 15 November 2008, Pages: 2879–2884, Haris Kokotas, Lut Van Laer, Maria Grigoriadou, Vassiliki Iliadou, John Economides, Stella Pomoni, Andreas Pampanos, Nikos Eleftheriades, Elisabeth Ferekidou, Stavros Korres, Aglaia Giannoulia-Karantana, Guy Van Camp and Michael B. Petersen

    Article first published online : 16 OCT 2008, DOI: 10.1002/ajmg.a.32546

  14. Mutation of GJB2 in a Chinese patient with keratitis–ichthyosis–deafness syndrome and brain malformation

    Clinical and Experimental Dermatology

    Volume 34, Issue 3, April 2009, Pages: 309–313, X.-B. Zhang, S.-C. Wei, C.-X. Li, X. Xu, Y.-Q. He, Q. Luo, J. Li and Y.-F. Wang

    Article first published online : 30 OCT 2008, DOI: 10.1111/j.1365-2230.2008.02934.x

  15. G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart–Pumphrey syndrome

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 3, 30 July 2005, Pages: 282–284, Fabiana Alexandrino, Edi Lúcia Sartorato, Antonia Paula Marques-de-Faria and Carlos Eduardo Steiner

    Article first published online : 10 JUN 2005, DOI: 10.1002/ajmg.a.30822

  16. Compound heterozygosity for dominant and recessive GJB2 mutations: Effect on phenotype and review of the literature

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 14, 15 July 2007, Pages: 1567–1573, Katherine O. Welch, Ruth S. Marin, Arti Pandya and Kathleen S. Arnos

    Article first published online : 12 APR 2007, DOI: 10.1002/ajmg.a.31701

  17. GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

    The Laryngoscope

    Volume 124, Issue 2, February 2014, Pages: E34–E53, Dylan K. Chan and Kay W. Chang

    Article first published online : 8 OCT 2013, DOI: 10.1002/lary.24332

  18. New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 4, April 2009, Pages: 685–688, Sandra Iossa, Viviana Chinetti, Gennaro Auletta, Carla Laria, Maria De Luca, Monica Rienzo, Pasquale Giannini, Mario Delfino, Alfredo Ciccodicola, Elio Marciano and Annamaria Franzé

    Article first published online : 7 AUG 2008, DOI: 10.1002/ajmg.a.32462

  19. A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 4, April 2009, Pages: 689–692, Yongyi Yuan, Deliang Huang, Fei Yu, Xiuhui Zhu, Dongyang Kang, Huijun Yuan, Dongyi Han and Pu Dai

    Article first published online : 15 OCT 2008, DOI: 10.1002/ajmg.a.32461

  20. Connexin 26 mutation in keratitis–ichthyosis–deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss

    International Journal of Dermatology

    Volume 47, Issue 5, May 2008, Pages: 443–447, Brent Kelly, Annabelle Lozano, Guillermo Altenberg and Tomoko Makishima

    Article first published online : 14 APR 2008, DOI: 10.1111/j.1365-4632.2008.03603.x