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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

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 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

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

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

Evidence that SLC26 anion transporters mediate branchial chloride uptake in adult zebrafish (Danio rerio)PERRY, S. F; VULESEVIC, B; GROSELL, M et al.American journal of physiology. Regulatory, integrative and comparative physiology. 2009, Vol 66, Num 4, issn 0363-6119, R988-R997Article

Prospective Mutation Screening of Three Common Deafness Genes in a Large Taiwanese Cohort with Idiopathic Bilateral Sensorineural Hearing Impairment Reveals a Difference in the Results between Families from Hospitals and Those from Rehabilitation FacilitiesWU, Chen-Chi; CHEN, Pei-Jer; CHIU, Yu-Hsun et al.Audiology & neuro-otology. 2008, Vol 13, Num 3, pp 172-181, issn 1420-3030, 10 p.Article

Long-term follow-up in patients with Pendred syndrome : vestibular, auditory and other phenotypesSUGIURA, Makoto; SATO, Eisuke; NAKASHIMA, Tsutomu et al.European archives of oto-rhino-laryngology. 2005, Vol 262, Num 9, pp 737-743, issn 0937-4477, 7 p.Article

Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or mondini dysplasia : A unique spectrum of mutations in taiwan, including a frequent founder mutationWU, Chen-Chi; YEH, Te-Huei; CHEN, Pei-Jer et al.The Laryngoscope. 2005, Vol 115, Num 6, pp 1060-1064, issn 0023-852X, 5 p.Conference Paper

Hypermethylation of the Pendred syndrome gene SLC26A4 is an early event in thyroid tumorigenesisXING, Mingzhao; TOKUMARU, Yutaka; WU, Guojun et al.Cancer research (Baltimore). 2003, Vol 63, Num 9, pp 2312-2315, issn 0008-5472, 4 p.Article

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneityBLONS, H; FELDMANN, D; DELOBEL, B et al.Clinical genetics. 2004, Vol 66, Num 4, pp 333-340, issn 0009-9163, 8 p.Article

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