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Similar articles for PubMed (Select 19235486)

1.

[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
2.

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. Epub 2007 Sep 18.

PMID:
17876604
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: 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 3;90(1):38-44.

PMID:
10602116
5.

[Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with Pendred-syndrome].

Birkenhäger R, Knapp FB, Klenzner T, Aschendorff A, Schipper J.

Laryngorhinootologie. 2004 Dec;83(12):831-5. German.

PMID:
15611902
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.

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.

PMID:
17697873
8.

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
9.

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.

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.

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
12.

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
13.

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.

14.

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 1;9(11):1709-15.

15.

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
16.

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
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.

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
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.

High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein.

Fugazzola L, Cirello V, Dossena S, Rodighiero S, Muzza M, Castorina P, Lalatta F, Ambrosetti U, Beck-Peccoz P, Bottà G, Paulmichl M.

Eur J Endocrinol. 2007 Sep;157(3):331-8.

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