Search Results

There are 9645 results for: content related to: A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

  1. Non-syndromic, autosomal-recessive deafness

    Clinical Genetics

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

    Version of Record online : 27 APR 2006, DOI: 10.1111/j.1399-0004.2006.00613.x

  2. A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2485–2492, Mojgan Babanejad, Zohreh Fattahi, Niloofar Bazazzadegan, Carla Nishimura, Nicole Meyer, Nooshin Nikzat, Elahe Sohrabi, Amin Najmabadi, Peyman Jamali, Farkhonde Habibi, Richard J.H. Smith, Kimia Kahrizi and Hossein Najmabadi

    Version of Record online : 17 AUG 2012, DOI: 10.1002/ajmg.a.35572

  3. SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 388–391, ND Rendtorff, I Schrijver, M Lodahl, J Rodriguez-Paris, T Johnsen, EC Hansén, LAA Nickelsen, Z Tümer, T Fagerheim, R Wetke and L Tranebjærg

    Version of Record online : 22 JAN 2013, DOI: 10.1111/cge.12074

  4. Two missense mutations in SLC26A4 gene: a molecular and functional study

    Clinical Genetics

    Volume 78, Issue 1, July 2010, Pages: 74–80, I Ben Rebeh, N Yoshimi, H Hadj-Kacem, S Yanohco, B Hammami, M Mnif, M Araki, A Ghorbel, H Ayadi, S Masmoudi and H Miyazaki

    Version of Record online : 2 DEC 2009, DOI: 10.1111/j.1399-0004.2009.01360.x

  5. Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 353–358, CA Tan, D. del Gaudio, M.A. Dempsey, K. Arndt, S. Botes, A. Reeder and S. Das

    Version of Record online : 13 MAY 2013, DOI: 10.1111/cge.12172

  6. Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC26A4 genotypes

    The Laryngoscope

    Volume 125, Issue 6, June 2015, Pages: E216–E222, Yoon C. Rah, Ah R. Kim, Ja-Won Koo, Jun H. Lee, Seung-ha Oh and Byung Y. Choi

    Version of Record online : 8 DEC 2014, DOI: 10.1002/lary.25079

  7. 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

    Version of Record online : 8 OCT 2013, DOI: 10.1002/lary.24332

  8. You have free access to this content
    Hypo-Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?

    Human Mutation

    Volume 30, Issue 4, April 2009, Pages: 599–608, Byung Yoon Choi, Andrew K. Stewart, Anne C. Madeo, Shannon P. Pryor, Suzanne Lenhard, Rick Kittles, David Eisenman, H. Jeffrey Kim, John Niparko, James Thomsen, Kathleen S. Arnos, Walter E. Nance, Kelly A. King, Christopher K. Zalewski, Carmen C. Brewer, Thomas Shawker, James C. Reynolds, John A. Butman, Lawrence P. Karniski, Seth L. Alper and Andrew J. Griffith

    Version of Record online : 8 FEB 2009, DOI: 10.1002/humu.20884

  9. You have free access to this content
    Microfluidic PCR-based target enrichment: A case study in two rapid radiations of Commiphora (Burseraceae) from Madagascar

    Journal of Systematics and Evolution

    Volume 53, Issue 5, September 2015, Pages: 411–431, Morgan R. Gostel, Kiera A. Coy and Andrea Weeks

    Version of Record online : 4 SEP 2015, DOI: 10.1111/jse.12173

  10. 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

  11. Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss

    American Journal of Medical Genetics Part A

    Volume 167, Issue 10, October 2015, Pages: 2357–2365, Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Guo-Jian Wang, Jin-Cao Xu, Yu-Bin Ji, Ming-Yu Han, Fei Yu, Dong-Yang Kang, Xi Lin and Pu Dai

    Version of Record online : 16 JUN 2015, DOI: 10.1002/ajmg.a.37206

  12. 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

    Version of Record online : 21 APR 2004, DOI: 10.1002/ajmg.a.30053

  13. DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

    Human Mutation

    Volume 37, Issue 8, August 2016, Pages: 812–819, Manou Sommen, Isabelle Schrauwen, Geert Vandeweyer, Nele Boeckx, Jason J. Corneveaux, Jenneke van den Ende, An Boudewyns, Els De Leenheer, Sandra Janssens, Kathleen Claes, Margriet Verstreken, Nicola Strenzke, Friederike Predöhl, Wim Wuyts, Geert Mortier, Maria Bitner-Glindzicz, Tobias Moser, Paul Coucke, Matthew J. Huentelman and Guy Van Camp

    Version of Record online : 6 MAY 2016, DOI: 10.1002/humu.22999

  14. Molecular Diagnosis of Hearing Loss

    Unit

    Current Protocols in Human Genetics

    9:9.16.1–9.16.16

    Kerry K. Brown and Heidi L. Rehm

    Published Online : 1 JAN 2012, DOI: 10.1002/0471142905.hg0916s72

  15. You have free access to this content
    Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)

    Annals of Human Genetics

    Volume 74, Issue 4, July 2010, Pages: 299–307, Radka Pourová, Petr Janoušek, Michal Jurovčík, Marcela Dvořáková, Marcela Malíková, Dagmar Rašková, Olga Bendová, Emanuela Leonardi, Alessandra Murgia, Zdenek Kabelka, Jaromír Astl and Pavel Seeman

    Version of Record online : 17 JUN 2010, DOI: 10.1111/j.1469-1809.2010.00581.x

  16. SNaPshot reveals high mutation and carrier frequencies of 15 common hearing loss mutants in a Chinese newborn cohort

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 467–472, Y. Chen, Y. Cao, H.-B. Li, J. Mao, M.-J. Liu, Y.-H. Liu, B.-J. Wang, D. Jiang, Q. Zhu, Y. Ding, W. Wang, H. Li and K.W. Choy

    Version of Record online : 16 SEP 2014, DOI: 10.1111/cge.12452

  17. 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

    Version of Record online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31525

  18. Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK – implications for genetic testing

    Clinical Genetics

    Volume 68, Issue 6, December 2005, Pages: 506–512, T Hutchin, NN Coy, H Conlon, E Telford, K Bromelow, D Blaydon, G Taylor, E Coghill, S Brown, R Trembath, XZ Liu, M Bitner-Glindzicz and R Mueller

    Version of Record online : 10 NOV 2005, DOI: 10.1111/j.1399-0004.2005.00539.x

  19. Slc26a3 deficiency is associated with loss of colonic HCO3 secretion, absence of a firm mucus layer and barrier impairment in mice

    Acta Physiologica

    Volume 211, Issue 1, May 2014, Pages: 161–175, F. Xiao, Q. Yu, J. Li, M. E. V. Johansson, A. K. Singh, W. Xia, B. Riederer, R. Engelhardt, M. Montrose, M. Soleimani, D. A Tian, G. Xu, G. C. Hansson and U. Seidler

    Version of Record online : 31 JAN 2014, DOI: 10.1111/apha.12220

  20. The c.−103T>C variant in the 5′-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?

    Human Mutation

    Volume 30, Issue 10, October 2009, Pages: 1469–1470, Tao Yang and Richard J.H. Smith

    Version of Record online : 28 SEP 2009, DOI: 10.1002/humu.21097