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There are 12538 results for: content related to: Hypo-Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?

  1. 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

  2. Developmental expression of solute carrier family 26A member 4 (SLC26A4/pendrin) during amelogenesis in developing rodent teeth

    European Journal of Oral Sciences

    Volume 119, Issue s1, December 2011, Pages: 185–192, Antonius L. J. J. Bronckers, Jing Guo, Behrouz Zandieh-Doulabi, Theodore J. Bervoets, Donacian M. Lyaruu, Xiangming Li, Philine Wangemann and Pamela DenBesten

    Version of Record online : 13 JAN 2012, DOI: 10.1111/j.1600-0722.2011.00901.x

  3. You have free access to this content
    The Slc26a4 transporter functions as an electroneutral Cl/I/HCO3 exchanger: role of Slc26a4 and Slc26a6 in I and HCO3 secretion and in regulation of CFTR in the parotid duct

    The Journal of Physiology

    Volume 586, Issue 16, August 2008, Pages: 3813–3824, Nikolay Shcheynikov, Dongki Yang, Youxue Wang, Weizong Zeng, Lawrence P. Karniski, Insuk So, Susan M. Wall and Shmuel Muallem

    Version of Record online : 18 AUG 2008, DOI: 10.1113/jphysiol.2008.154468

  4. Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 270–275, H.J. Lee, J. Jung, J.W. Shin, M.H. Song, S.H. Kim, J.-H. Lee, K.-A. Lee, S. Shin, U.-K. Kim, J. Bok, K.-Y. Lee, J.Y. Choi and H.J. Park

    Version of Record online : 3 OCT 2013, DOI: 10.1111/cge.12273

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    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

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    Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 1, 1 January 2004, Pages: 1–9, Sai Prasad, Karen A. Kölln, Robert A. Cucci, Richard C. Trembath, Guy Van Camp and Richard J.H. Smith

    Version of Record online : 18 JUN 2003, DOI: 10.1002/ajmg.a.20272

  7. 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

  8. 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

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    Diverse transport modes by the solute carrier 26 family of anion transporters

    The Journal of Physiology

    Volume 587, Issue 10, May 2009, Pages: 2179–2185, Ehud Ohana, Dongki Yang, Nikolay Shcheynikov and Shmuel Muallem

    Version of Record online : 14 MAY 2009, DOI: 10.1113/jphysiol.2008.164863

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    Thyroid iodide efflux: a team effort?

    The Journal of Physiology

    Volume 589, Issue 24, December 2011, Pages: 5929–5939, Peying Fong

    Version of Record online : 14 DEC 2011, DOI: 10.1113/jphysiol.2011.218594

  11. The Renal Physiology of Pendrin (SLC26A4) and Its Role in Hypertension

    Epithelial Anion Transport in Health and Disease: The Role of the SLC26 Transporters Family: Novartis Foundation Symposium 273

    Derek J. Chadwick, Jamie Goode, Pages: 231–243, 2008

    Published Online : 7 OCT 2008, DOI: 10.1002/0470029579.ch15

  12. 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

  13. Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness

    Clinical Genetics

    Volume 65, Issue 5, May 2004, Pages: 384–389, D Shears, H Conlon, T Murakami, K Fukai, R Alles, R Trembath and M Bitner-Glindzicz

    Version of Record online : 20 APR 2004, DOI: 10.1111/j.0009-9163.2004.00235.x

  14. Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations

    The Laryngoscope

    Volume 124, Issue 5, May 2014, Pages: E194–E202, Mee Hyun Song, Joong-Wook Shin, Hong-Joon Park, Kyung-A Lee, Yoonjung Kim, Un-Kyung Kim, Ju Hyun Jeon and Jae Young Choi

    Version of Record online : 13 DEC 2013, DOI: 10.1002/lary.24504

  15. Prevalent SLC26A4 Mutations in Patients with Enlarged Vestibular Aqueduct and/or Mondini Dysplasia: A Unique Spectrum of Mutations in Taiwan, Including a Frequent Founder Mutation

    The Laryngoscope

    Volume 115, Issue 6, June 2005, Pages: 1060–1064, Chen-Chi Wu, Te-Huei Yeh, Pei-Jer Chen and Chuan-Jen Hsu

    Version of Record online : 3 JAN 2009, DOI: 10.1097/01.MLG.0000163339.61909.D0

  16. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans

    Clinical Genetics

    Volume 67, Issue 2, February 2005, Pages: 160–165, H-J Park, S-J Lee, H-S Jin, JO Lee, S-H Go, HS Jang, S-K Moon, S-C Lee, Y-M Chun, H-K Lee, J-Y Choi, S-C Jung, AJ Griffith and SK Koo

    Version of Record online : 20 DEC 2004, DOI: 10.1111/j.1399-0004.2004.00386.x

  17. Screening of SLC26A4 gene in autoimmune thyroid diseases

    International Journal of Immunogenetics

    Volume 40, Issue 4, August 2013, Pages: 284–291, R. Kallel, M. Niasme-Grare, S. Belguith-Maalej, M. Mnif, M. Abid, H. Ayadi, S. Masmoudi, L. Jonard and H. Hadj Kacem

    Version of Record online : 22 DEC 2012, DOI: 10.1111/iji.12035

  18. Resistance to hypertension and high Cl excretion in humans with SLC26A4 mutations

    Clinical Genetics

    Volume 91, Issue 3, March 2017, Pages: 448–452, B.G. Kim, T.-H. Yoo, J.-E. Yoo, Y.J. Seo, J. Jung and J.Y. Choi

    Version of Record online : 20 MAY 2016, DOI: 10.1111/cge.12789

  19. New Insights into the Role of Pendrin (SLC26A4) in Inner Ear Fluid Homeostasis

    Epithelial Anion Transport in Health and Disease: The Role of the SLC26 Transporters Family: Novartis Foundation Symposium 273

    Derek J. Chadwick, Jamie Goode, Pages: 213–230, 2008

    Published Online : 7 OCT 2008, DOI: 10.1002/0470029579.ch14

  20. Early deterioration of residual hearing in patients with SLC26A4 mutations

    The Laryngoscope

    Volume 126, Issue 8, August 2016, Pages: E286–E291, Bo Gyung Kim, Kyung Jin Roh, Ah Young Park, Seung Chul Lee, Bo Sung Kang, Young Joon Seo, Jong Dae Lee and Jae Young Choi

    Version of Record online : 9 DEC 2015, DOI: 10.1002/lary.25786