These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. Hereditary hearing loss with thyroid abnormalities. Choi BY; Muskett J; King KA; Zalewski CK; Shawker T; Reynolds JC; Butman JA; Brewer CC; Stewart AK; Alper SL; Griffith AJ Adv Otorhinolaryngol; 2011; 70():43-49. PubMed ID: 21358184 [TBL] [Abstract][Full Text] [Related]
5. Genetics and phenomics of Pendred syndrome. Bizhanova A; Kopp P Mol Cell Endocrinol; 2010 Jun; 322(1-2):83-90. PubMed ID: 20298745 [TBL] [Abstract][Full Text] [Related]
6. Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene. Lofrano-Porto A; Barra GB; Nascimento PP; Costa PG; Garcia EC; Vaz RF; Batista AR; Freitas AC; Cherulli BL; Bahmad F; Figueiredo LG; Neves FA; Casulari LA Arq Bras Endocrinol Metabol; 2008 Nov; 52(8):1296-303. PubMed ID: 19169484 [TBL] [Abstract][Full Text] [Related]
7. Pendred syndrome and iodide transport in the thyroid. Kopp P; Pesce L; Solis-S JC Trends Endocrinol Metab; 2008 Sep; 19(7):260-8. PubMed ID: 18692402 [TBL] [Abstract][Full Text] [Related]
8. Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. Ladsous M; Vlaeminck-Guillem V; Dumur V; Vincent C; Dubrulle F; Dhaenens CM; Wémeau JL Thyroid; 2014 Apr; 24(4):639-48. PubMed ID: 24224479 [TBL] [Abstract][Full Text] [Related]
9. Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct. Bogazzi F; Russo D; Raggi F; Ultimieri F; Berrettini S; Forli F; Grasso L; Ceccarelli C; Mariotti S; Pinchera A; Bartalena L; Martino E J Endocrinol Invest; 2004 May; 27(5):430-5. PubMed ID: 15279074 [TBL] [Abstract][Full Text] [Related]
10. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects. Nonose RW; Lezirovitz K; de Mello Auricchio MTB; Batissoco AC; Yamamoto GL; Mingroni-Netto RC BMC Med Genet; 2018 May; 19(1):73. PubMed ID: 29739340 [TBL] [Abstract][Full Text] [Related]
11. The ESF meeting on "The proteomics, epigenetics and pharmacogenetics of pendrin". Dossena S; Nofziger C; Lang F; Valenti G; Paulmichl M Cell Physiol Biochem; 2011; 28(3):377-84. PubMed ID: 22116352 [TBL] [Abstract][Full Text] [Related]
12. Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. Taylor JP; Metcalfe RA; Watson PF; Weetman AP; Trembath RC J Clin Endocrinol Metab; 2002 Apr; 87(4):1778-84. PubMed ID: 11932316 [TBL] [Abstract][Full Text] [Related]
13. Clinical and molecular characteristics of Pendred syndrome. Kopp P; Bizhanova A Ann Endocrinol (Paris); 2011 Apr; 72(2):88-94. PubMed ID: 21511235 [TBL] [Abstract][Full Text] [Related]
14. [Pendred syndrome among patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurrence of phenocopies]. Banghová K; Al TE; Novotná D; Zapletalová J; Hníková O; Cáp J; Klabochová J; Kúseková M; Lebl J Cas Lek Cesk; 2008; 147(12):616-22. PubMed ID: 19235486 [TBL] [Abstract][Full Text] [Related]
15. Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. Reardon W; OMahoney CF; Trembath R; Jan H; Phelps PD QJM; 2000 Feb; 93(2):99-104. PubMed ID: 10700480 [TBL] [Abstract][Full Text] [Related]
16. Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Scott DA; Wang R; Kreman TM; Andrews M; McDonald JM; Bishop JR; Smith RJ; Karniski LP; Sheffield VC Hum Mol Genet; 2000 Jul; 9(11):1709-15. PubMed ID: 10861298 [TBL] [Abstract][Full Text] [Related]
17. The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. Cho MA; Jeong SJ; Eom SM; Park HY; Lee YJ; Park SE; Park SY; Rhee Y; Kang ES; Ahn CW; Cha BS; Lee EJ; Kim KR; Lee HC; Lim SK Endocrine; 2006 Oct; 30(2):237-43. PubMed ID: 17322586 [TBL] [Abstract][Full Text] [Related]
18. Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome? Kara C; Kılıç M; Uçaktürk A; Aydın M J Clin Res Pediatr Endocrinol; 2010; 2(2):81-4. PubMed ID: 21274344 [TBL] [Abstract][Full Text] [Related]
19. Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. Banghova K; Al Taji E; Cinek O; Novotna D; Pourova R; Zapletalova J; Hnikova O; Lebl J Eur J Pediatr; 2008 Jul; 167(7):777-83. PubMed ID: 17876604 [TBL] [Abstract][Full Text] [Related]