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Items: 1 to 20 of 104

1.

Two common and three novel PDS mutations in Thai patients with Pendred syndrome.

Snabboon T, Plengpanich W, Saengpanich S, Sirisalipoch S, Keelawat S, Sunthornyothin S, Khovidhunkit W, Suwanwalaikorn S, Sridama V, Shotelersuk V.

J Endocrinol Invest. 2007 Dec;30(11):907-13.

PMID:
18250610
2.

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.

3.

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.

4.

[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
5.

Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.

Coucke PJ, Van Hauwe P, Everett LA, Demirhan O, Kabakkaya Y, Dietrich NL, Smith RJ, Coyle E, Reardon W, Trembath R, Willems PJ, Green ED, Van Camp G.

J Med Genet. 1999 Jun;36(6):475-7.

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.

PMID:
11919333
7.

Two frequent missense mutations in Pendred syndrome.

Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G.

Hum Mol Genet. 1998 Jul;7(7):1099-104.

8.

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Müller-Forell W, Kopp P, Pohlenz J.

J Clin Endocrinol Metab. 2006 Jul;91(7):2678-81. Epub 2006 May 9.

PMID:
16684826
9.

Clinical and molecular analysis of three Mexican families with Pendred's syndrome.

Gonzalez Trevino O, Karamanoglu Arseven O, Ceballos CJ, Vives VI, Ramirez RC, Gomez VV, Medeiros-Neto G, Kopp P.

Eur J Endocrinol. 2001 Jun;144(6):585-93.

10.

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
11.

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
12.

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
13.

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. Erratum in: Endocrine. 2006 Dec;30(3):397. Park, Hyun-Yung [corrected to Park, Hyun-Young]; Kang, Eun Soek [corrected to Kang, Eun Seok].

PMID:
17322586
14.
15.

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.

16.

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.

PMID:
9920104
17.

A novel mutation in the pendrin gene associated with Pendred's syndrome.

Bogazzi F, Raggi F, Ultimieri F, Campomori A, Cosci C, Berrettini S, Neri E, La Rocca R, Ronca G, Martino E, Bartalena L.

Clin Endocrinol (Oxf). 2000 Mar;52(3):279-85.

PMID:
10718825
18.

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. Erratum in: Thyroid. 2009 Nov;19(11):1294. Bevenga, S [corrected to Benvenga, S].

PMID:
16053392
19.

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.

20.

Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome.

Sakurai K, Hata M, Hishinuma A, Ushijima R, Okada A, Taeda Y, Arihara Z, Fukazawa H, Takahashi K.

Endocr J. 2013;60(6):805-11. Epub 2013 Mar 2.

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