220 related articles for article (PubMed ID: 10861298)
1. 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]
2. The Pendred syndrome gene encodes a chloride-iodide transport protein.
Scott DA; Wang R; Kreman TM; Sheffield VC; Karniski LP
Nat Genet; 1999 Apr; 21(4):440-3. PubMed ID: 10192399
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange.
Scott DA; Karniski LP
Am J Physiol Cell Physiol; 2000 Jan; 278(1):C207-11. PubMed ID: 10644529
[TBL] [Abstract][Full Text] [Related]
5. Molecular and functional characterization of human pendrin and its allelic variants.
Dossena S; Nofziger C; Tamma G; Bernardinelli E; Vanoni S; Nowak C; Grabmayer E; Kössler S; Stephan S; Patsch W; Paulmichl M
Cell Physiol Biochem; 2011; 28(3):451-66. PubMed ID: 22116358
[TBL] [Abstract][Full Text] [Related]
6. Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
Fugazzola L; Cerutti N; Mannavola D; Crino A; Cassio A; Gasparoni P; Vannucchi G; Beck-Peccoz P
Pediatr Res; 2002 Apr; 51(4):479-84. PubMed ID: 11919333
[TBL] [Abstract][Full Text] [Related]
7. Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
López-Bigas N; Melchionda S; de Cid R; Grifa A; Zelante L; Govea N; Arbonés ML; Gasparini P; Estivill X
Hum Mutat; 2001 Dec; 18(6):548. PubMed ID: 11748854
[TBL] [Abstract][Full Text] [Related]
8. Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues.
Bidart JM; Mian C; Lazar V; Russo D; Filetti S; Caillou B; Schlumberger M
J Clin Endocrinol Metab; 2000 May; 85(5):2028-33. PubMed ID: 10843192
[TBL] [Abstract][Full Text] [Related]
9. The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4.
Wilcox ER; Everett LA; Li XC; Lalwani AK; Green ED
Adv Otorhinolaryngol; 2000; 56():145-51. PubMed ID: 10868226
[No Abstract] [Full Text] [Related]
10. 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]
11. Molecular analysis of the PDS gene in Pendred syndrome.
Coyle B; Reardon W; Herbrick JA; Tsui LC; Gausden E; Lee J; Coffey R; Grueters A; Grossman4 A; Phelps PD; Luxon L; Kendall-Taylor P; Scherer SW; Trembath RC
Hum Mol Genet; 1998 Jul; 7(7):1105-12. PubMed ID: 9618167
[TBL] [Abstract][Full Text] [Related]
12. Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
López-Bigas N; Melchionda S; de Cid R; Grifa A; Zelante L; Govea N; Arbonés ML; Gasparini P; Estivill X
Hum Mutat; 2002 Jul; 20(1):77-8. PubMed ID: 12112665
[TBL] [Abstract][Full Text] [Related]
13. Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene.
Sato E; Nakashima T; Miura Y; Furuhashi A; Nakayama A; Mori N; Murakami H; Naganawa S; Tadokoro M
Eur J Endocrinol; 2001 Dec; 145(6):697-703. PubMed ID: 11720893
[TBL] [Abstract][Full Text] [Related]
14. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.
Usami S; Abe S; Weston MD; Shinkawa H; Van Camp G; Kimberling WJ
Hum Genet; 1999 Feb; 104(2):188-92. PubMed ID: 10190331
[TBL] [Abstract][Full Text] [Related]
15. Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
Masmoudi S; Charfedine I; Hmani M; Grati M; Ghorbel AM; Elgaied-Boulila A; Drira M; Hardelin JP; Ayadi H
Am J Med Genet; 2000 Jan; 90(1):38-44. PubMed ID: 10602116
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome.
Gillam MP; Bartolone L; Kopp P; Benvenga S
Thyroid; 2005 Jul; 15(7):734-41. PubMed ID: 16053392
[TBL] [Abstract][Full Text] [Related]
18. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
Coyle B; Coffey R; Armour JA; Gausden E; Hochberg Z; Grossman A; Britton K; Pembrey M; Reardon W; Trembath R
Nat Genet; 1996 Apr; 12(4):421-3. PubMed ID: 8630497
[TBL] [Abstract][Full Text] [Related]
19. Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.
Everett LA; Belyantseva IA; Noben-Trauth K; Cantos R; Chen A; Thakkar SI; Hoogstraten-Miller SL; Kachar B; Wu DK; Green ED
Hum Mol Genet; 2001 Jan; 10(2):153-61. PubMed ID: 11152663
[TBL] [Abstract][Full Text] [Related]
20. Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene.
Kopp P; Arseven OK; Sabacan L; Kotlar T; Dupuis J; Cavaliere H; Santos CL; Jameson JL; Medeiros-Neto G
J Clin Endocrinol Metab; 1999 Jan; 84(1):336-41. PubMed ID: 9920104
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]