211 related articles for article (PubMed ID: 16444159)
1. Pendred syndrome.
Glaser B
Pediatr Endocrinol Rev; 2003 Dec; 1 Suppl 2():199-204; discussion 204. PubMed ID: 16444159
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Sulfate transport is not impaired in pendred syndrome thyrocytes.
Kraiem Z; Heinrich R; Sadeh O; Shiloni E; Nassir E; Hazani E; Glaser B
J Clin Endocrinol Metab; 1999 Jul; 84(7):2574-6. PubMed ID: 10404839
[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. Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan.
Lai CC; Chiu CY; Shiao AS; Tso YC; Wu YC; Tu TY; Jap TS
Metabolism; 2007 Sep; 56(9):1279-84. PubMed ID: 17697873
[TBL] [Abstract][Full Text] [Related]
8. Pendred syndrome.
Wémeau JL; Kopp P
Best Pract Res Clin Endocrinol Metab; 2017 Mar; 31(2):213-224. PubMed ID: 28648509
[TBL] [Abstract][Full Text] [Related]
9. The role of pendrin in iodide regulation.
Fugazzola L; Cerutti N; Mannavola D; Vannucchi G; Beck-Peccoz P
Exp Clin Endocrinol Diabetes; 2001; 109(1):18-22. PubMed ID: 11573133
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
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. Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.
Cama E; Alemanno MS; Bellacchio E; Santarelli R; Carella M; Zelante L; Palladino T; Inches I; di Paola F; Arslan E; Melchionda S
Int J Pediatr Otorhinolaryngol; 2009 Oct; 73(10):1458-63. PubMed ID: 19615760
[TBL] [Abstract][Full Text] [Related]
14. Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.
Sheffield VC; Kraiem Z; Beck JC; Nishimura D; Stone EM; Salameh M; Sadeh O; Glaser B
Nat Genet; 1996 Apr; 12(4):424-6. PubMed ID: 8630498
[TBL] [Abstract][Full Text] [Related]
15. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).
Everett LA; Glaser B; Beck JC; Idol JR; Buchs A; Heyman M; Adawi F; Hazani E; Nassir E; Baxevanis AD; Sheffield VC; Green ED
Nat Genet; 1997 Dec; 17(4):411-22. PubMed ID: 9398842
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells.
Royaux IE; Suzuki K; Mori A; Katoh R; Everett LA; Kohn LD; Green ED
Endocrinology; 2000 Feb; 141(2):839-45. PubMed ID: 10650967
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
