Clinical and molecular characteristics of Pendred syndromeKOPP, P; BIZHANOVA, A.Annales d'endocrinologie. 2011, Vol 72, Num 2, pp 88-94, issn 0003-4266, 7 p.Conference Paper

THE MONDINI TYPE OF COCHLEAR MALFORMATION. A SURVEY OF THE LITERATUREILLUM P.1972; ARCH. OTOLARYNGOL.; U.S.A.; DA. 1972; VOL. 96; NO 4; PP. 305-311; BIBL. 1P.Serial Issue

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Goitre and hearing impairment in a patient with Pendred syndromeARWERT, L. I; SEPERS, J. M.Netherlands journal of medicine. 2008, Vol 66, Num 3, pp 118-120, issn 0300-2977, 3 p.Article

Pendred syndrome and iodide transport in the thyroidKOPP, Peter; PESCE, Liuska; SOLIS-S, Juan Carlos et al.Trends in endocrinology and metabolism. 2008, Vol 19, Num 7, pp 260-268, issn 1043-2760, 9 p.Article

A Patient With Pendred Syndrome Whose Goiter Progressed With Normal Serum Thyrotropin and Iodine OrganificationASAKURA, Yumi; NARUMI, Satoshi; MUROYA, Koji et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 7, pp 1793-1797, issn 1552-4825, 5 p.Article

Syndrome de Pendred en TunisieCHARFEDDINE, I; MNEJJA, M; HAMMAMI, B et al.Annales françaises d'oto-rhino-laryngologie et de pathologie cervico-faciale (Print). 2010, Vol 127, Num 1, pp 7-11, issn 1879-7261, 5 p.Article

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing lossPERA, Alejandra; VILLAMAR, Manuela; VINUELA, Antonio et al.European journal of human genetics. 2008, Vol 16, Num 8, pp 888-896, issn 1018-4813, 9 p.Article

Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening : identification of two novel PDS/SLC26A4 mutationsBANGHOVA, Karolina; AL TAJI, Eva; CINEK, Ondrej et al.European journal of pediatrics. 2008, Vol 167, Num 7, pp 777-783, issn 0340-6199, 7 p.Article

Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expressionWANGEMANN, Philine; KIM, Hyoung-Mi; BILLINGS, Sara et al.American journal of physiology. Renal physiology. 2009, Vol 66, Num 5, issn 1931-857X, F1435-F1447Article

Life-threatening metabolic alkalosis in Pendred syndromeKANDASAMY, Narayanan; FUGAZZOLA, Laura; EVANS, Mark et al.European journal of endocrinology. 2011, Vol 165, Num 1, pp 167-170, issn 0804-4643, 4 p.Article

Salicylate restores transport function and anion exchanger activity of missense pendrin mutationsISHIHARA, Kenji; OKUYAMA, Shuhei; TSUMOTO, Kohei et al.Hearing research. 2010, Vol 270, Num 1-2, pp 110-118, issn 0378-5955, 9 p.Article

Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndromePETA, I; BIGOZZI, M; BIANCHI, B et al.Clinical nephrology. 2008, Vol 69, Num 6, pp 450-453, issn 0301-0430, 4 p.Article

An unfortunate case of Pendred syndromeSANEI-MOGHADDAM, A; WILSON, T; KUMAR, S et al.Journal of laryngology and otology. 2011, Vol 125, Num 9, pp 965-967, issn 0022-2151, 3 p.Article

Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (DFNB4) or Pendred SyndromeWU, Chen-Chi; LU, Ying-Chang; CHEN, Pei-Jer et al.Audiology & neuro-otology. 2010, Vol 15, Num 1, pp 57-66, issn 1420-3030, 10 p.Article

Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension?MADEO, A. C; MANICHAIKUL, A; PRYOR, S. P et al.Journal of medical genetics. 2009, Vol 46, Num 6, pp 405-406, issn 0022-2593, 2 p.Article

Two missense mutations in SLC26A4 gene: a molecular and functional studyREBEH, I. Ben; YOSHIMI, N; MIYAZAKI, H et al.Clinical genetics. 2010, Vol 78, Num 1, pp 74-80, issn 0009-9163, 7 p.Article

Pendred Syndrome in Two Galician Families : Insights into Clinical Phenotypes through Cellular, Genetic, and Molecular StudiesPALOS, Fernando; GARCIA-RENDUELES, Maria E. R; ALVAREZ, Paula et al.The Journal of clinical endocrinology and metabolism. 2008, Vol 93, Num 1, pp 267-277, issn 0021-972X, 11 p.Article

Genetic Causes of Goiter and Deafness: Pendred Syndrome in a Girl and Cooccurrence of Pendred Syndrome and Resistance to Thyroid Hormone in Her SisterBORCK, Guntram; SEEWI, Ora; JUNG, Alexander et al.The Journal of clinical endocrinology and metabolism. 2009, Vol 94, Num 6, pp 2106-2109, issn 0021-972X, 4 p.Article

Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse modelSINGH, Ruchira; WANGEMANN, Philine.American journal of physiology. Renal physiology. 2008, Vol 63, Num 1, issn 1931-857X, F139-F148Article

Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutationsSUZUKI, Hiroaki; OSHIMA, Aki; TSUKAM, Koji et al.Acta oto-laryngologica. 2007, Vol 127, Num 12, pp 1292-1297, issn 0001-6489, 6 p.Article