An association study of the SLC26A4 gene in children with mental retardationJUN LI; FUCHANG ZHANG; ZHIYUN WEI et al.Neuroscience letters. 2009, Vol 457, Num 3, pp 155-158, issn 0304-3940, 4 p.Article

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairmentKAHRIZI, Kimia; MOHSENI, Marzieh; AZIZI, Fereydoun et al.European journal of pediatrics. 2009, Vol 168, Num 6, pp 651-653, issn 0340-6199, 3 p.Article

SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndromeITO, Taku; NOGUCHI, Yoshihiro; YASHIMA, Takatoshi et al.The Laryngoscope. 2006, Vol 116, Num 5, pp 796-799, issn 0023-852X, 4 p.Article

Loss of cochlear HCO₃- secretion causes deafness via endolymphatic acidification and inhibition of Ca²⁺ reabsorption in a pendred syndrome mouse modelWANGEMANN, Philine; NAKAYA, Kazuhiro; TAO WU et al.American journal of physiology. Renal physiology. 2007, Vol 61, Num 5, issn 1931-857X, F1345-F1353Article

Cortical distal nephron Cl^― transport in volume homeostasis and blood pressure regulationWALL, Susan M; WEINSTEIN, Alan M.American journal of physiology. Renal physiology. 2013, Vol 74, Num 2, issn 1931-857X, F427-F438Article

Angiotensin II increases chloride absorption in the cortical collecting duct in mice through a pendrin-dependent mechanismPECH, Vladimir; YOUNG HEE KIM; WEINSTEIN, Alan M et al.American journal of physiology. Renal physiology. 2007, Vol 61, Num 3, pp 914-920, issn 1931-857X, 7 p.Article

Reduced ENaC protein abundance contributes to the lower blood pressure observed in pendrin-null miceYOUNG HEE KIM; PECH, Vladimir; SPENCER, Kathryn B et al.American journal of physiology. Renal physiology. 2007, Vol 62, Num 4, issn 1931-857X, F1314-F1324Article

Genetic basis of hearing loss associated with enlarged vestibular aqueducts in KoreansPARK, H.-J; LEE, S.-J; CHOI, J.-Y et al.Clinical genetics. 2005, Vol 67, Num 2, pp 160-165, issn 0009-9163, 6 p.Article

Genetic Characteristics in Children with Cochlear Implants and the Corresponding Auditory PerformanceWU, Chen-Chi; LIU, Tien-Chen; WANG, Shih-Hao et al.The Laryngoscope. 2011, Vol 121, Num 6, pp 1287-1293, issn 0023-852X, 7 p.Article

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populationsALBERT, Sébastien; BLONS, Hélène; DELOBEL, Bruno et al.European journal of human genetics. 2006, Vol 14, Num 6, pp 773-779, issn 1018-4813, 7 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

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

Preimplantation Genetic Diagnosis (Embryo Screening) for Enlarged Vestibular Aqueduct due to SLC26A4 MutationWU, Chen-Chi; LIN, Shin-Yu; SU, Yi-Nin et al.Audiology & neuro-otology. 2010, Vol 15, Num 5, pp 311-317, issn 1420-3030, 7 p.Article

Lack of pendrin HCO₃- transport elevates vestibular endolymphatic [Ca²⁺] by inhibition of acid-sensitive TRPV5 and TRPV6 channelsNAKAYA, Kazuhiro; HARBIDGE, Donald G; WANGEMANN, Philine et al.American journal of physiology. Renal physiology. 2007, Vol 61, Num 5, issn 1931-857X, F1314-F1321Article

Temporal bone imaging in GJB2 deafnessPROPST, Evan J; BLASER, Susan; STOCKLEY, Tracy L et al.The Laryngoscope. 2006, Vol 116, Num 12, pp 2178-2186, issn 0023-852X, 9 p.Article

The expression of wild-type pendrin (SLC26A4) in human embryonic kidney (HEK 293 Phoenix) cells leads to the activation of cationic currentsDOSSENA, Silvia; MACCAGNI, Antonella; ZOROWKA, Patrick et al.European journal of endocrinology. 2005, Vol 153, Num 5, pp 693-699, issn 0804-4643, 7 p.Article

Distribution of pendrin in the organ of Corti of mice observed by electron immunomicroscopyYOSHINO, Takahiko; SATO, Eisuke; NAKASHIMA, Tsutomu et al.European archives of oto-rhino-laryngology. 2006, Vol 263, Num 8, pp 699-704, issn 0937-4477, 6 p.Article

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutationsPRASAD, Sai; KÖLLN, Karen A; CUCCI, Robert A et al.American journal of medical genetics. 2004, Vol 124A, Num 1, pp 1-9, issn 0148-7299, 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

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genesPFARR, Nicole; BORCK, Guntram; TURK, Andrew et al.The Journal of clinical endocrinology and metabolism. 2006, Vol 91, Num 7, pp 2678-2681, issn 0021-972X, 4 p.Article

Specificity of SLC26A4 mutations in the pathogenesis of inner ear malformationsWU, Chen-Chi; CHEN, Pei-Jer; HSU, Chuan-Jen et al.Audiology & neuro-otology. 2005, Vol 10, Num 4, pp 234-242, issn 1420-3030, 9 p.Article

The responsible genes in Japanese deafness patients and clinical application using Invader assayUSAMI, Shin-Ichi; WAGATSUMA, Michio; FUKUOKA, Hisakuni et al.Acta oto-laryngologica. 2008, Vol 128, Num 4, pp 446-454, issn 0001-6489, 9 p.Article

Intrafamilial variability of the deafness and goiter phenotype in pendred syndrome caused by a T416P mutation in the SLC26A4 geneNAPIONTEK, Ulrike; BORCK, Guntram; MÜLLER-FORELL, Wiebke et al.The Journal of clinical endocrinology and metabolism. 2004, Vol 89, Num 11, pp 5347-5351, issn 0021-972X, 5 p.Article

SLC26A4 Genotype, But Not Cochlear Radiologic Structure, Is Correlated With Hearing Loss in Ears With an Enlarged Vestibular AqueductKING, Kelly A; BYUNG YOON CHOI; THOMSEN, James et al.The Laryngoscope. 2010, Vol 120, Num 2, pp 384-389, issn 0023-852X, 6 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