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Results: 1 to 20 of 157

Similar articles for PubMed (Select 21511235)

1.

Clinical and molecular characteristics of Pendred syndrome.

Kopp P, Bizhanova A.

Ann Endocrinol (Paris). 2011 Apr;72(2):88-94. doi: 10.1016/j.ando.2011.03.010. Epub 2011 Apr 20.

PMID:
21511235
2.

Genetics and phenomics of Pendred syndrome.

Bizhanova A, Kopp P.

Mol Cell Endocrinol. 2010 Jun 30;322(1-2):83-90. doi: 10.1016/j.mce.2010.03.006. Epub 2010 Mar 15. Review.

PMID:
20298745
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. doi: 10.1016/j.tem.2008.07.001. Epub 2008 Aug 7. Review.

PMID:
18692402
4.

Controversies concerning the role of pendrin as an apical iodide transporter in thyroid follicular cells.

Bizhanova A, Kopp P.

Cell Physiol Biochem. 2011;28(3):485-90. doi: 10.1159/000335103. Epub 2011 Nov 18. Review.

PMID:
22116361
5.

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;70:43-9. doi: 10.1159/000322469. Epub 2011 Feb 24. Review.

PMID:
21358184
6.

TSH regulates pendrin membrane abundance and enhances iodide efflux in thyroid cells.

Pesce L, Bizhanova A, Caraballo JC, Westphal W, Butti ML, Comellas A, Kopp P.

Endocrinology. 2012 Jan;153(1):512-21. doi: 10.1210/en.2011-1548. Epub 2011 Nov 22.

7.

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. doi: 10.1016/j.ijporl.2009.06.003. Epub 2009 Jul 16.

PMID:
19615760
8.

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.

PMID:
11919333
9.

[Pendrin: physiology, molecular biology and clinical importance].

Grimaldi R, Capuano P, Miranda N, Wagner C, Capasso G.

G Ital Nefrol. 2007 Jul-Aug;24(4):288-94. Review. Italian.

PMID:
17659500
10.

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. doi: 10.4274/jcrpe.v2i2.81. Epub 2010 May 6.

11.

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. doi: 10.1159/000335107. Epub 2011 Nov 18. Review.

PMID:
22116358
12.

Pendred syndrome.

Glaser B.

Pediatr Endocrinol Rev. 2003 Dec;1 Suppl 2:199-204; discussion 204. Review.

PMID:
16444159
13.

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 Jr, Figueiredo LG, Neves FA, Casulari LA.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1296-303.

14.
15.

Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.

Dossena S, Vezzoli V, Cerutti N, Bazzini C, Tosco M, Sironi C, Rodighiero S, Meyer G, Fascio U, Fürst J, Ritter M, Fugazzola L, Persani L, Zorowka P, Storelli C, Beck-Peccoz P, Bottà G, Paulmichl M.

Cell Physiol Biochem. 2006;17(5-6):245-56. Epub 2006 Jun 20.

PMID:
16791000
16.

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. doi: 10.1159/000335101. Epub 2011 Nov 16.

PMID:
22116352
17.

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. doi: 10.1089/thy.2013.0164. Epub 2014 Jan 20.

PMID:
24224479
18.

Life-threatening metabolic alkalosis in Pendred syndrome.

Kandasamy N, Fugazzola L, Evans M, Chatterjee K, Karet F.

Eur J Endocrinol. 2011 Jul;165(1):167-70. doi: 10.1530/EJE-11-0101. Epub 2011 May 6.

19.

[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. Czech.

PMID:
19235486
20.

[Pendred's syndrome: a cause of goiter associated with deafness].

Vázquez AG, Montesinos IG, Jiménez AM, García JA, García JG, Hernández JA.

Endocrinol Nutr. 2009 Oct;56(8):428-30. doi: 10.1016/S1575-0922(09)72714-7. Spanish.

PMID:
19959154
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