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Results: 1 to 20 of 145

Similar articles for PubMed (Select 16684826)

1.

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
2.

Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.

Deladoëy J, Pfarr N, Vuissoz JM, Parma J, Vassart G, Biesterfeld S, Pohlenz J, Van Vliet G.

J Clin Endocrinol Metab. 2008 Feb;93(2):627-33. Epub 2007 Nov 20.

PMID:
18029453
3.

[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
4.

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.

5.

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
6.

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.

7.

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
8.

Identification of novel functional null allele of SLC26A4 associated with enlarged vestibular aqueduct and its possible implication.

Jang JH, Jung J, Kim AR, Cho YM, Kim MY, Lee SY, Choi JY, Lee JH, Choi BY.

Audiol Neurootol. 2014;19(5):319-26. doi: 10.1159/000366190. Epub 2014 Oct 24.

PMID:
25358692
9.

Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister.

Borck G, Seewi O, Jung A, Schönau E, Kubisch C.

J Clin Endocrinol Metab. 2009 Jun;94(6):2106-9. doi: 10.1210/jc.2008-2361. Epub 2009 Mar 24.

PMID:
19318451
10.

Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations.

Altmann K, Hermanns P, Mühlenberg R, Fricke-Otto S, Wentzell R, Pohlenz J.

Exp Clin Endocrinol Diabetes. 2013 Jun;121(6):343-6. doi: 10.1055/s-0033-1333766. Epub 2013 Mar 19.

PMID:
23512414
11.

Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.

Rivolta CM, Louis-Tisserand M, Varela V, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM.

Clin Endocrinol (Oxf). 2007 Aug;67(2):238-46. Epub 2007 Jun 4.

PMID:
17547680
12.

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
13.

Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.

Nascimento AC, Guedes DR, Santos CS, Knobel M, Rubio IG, Medeiros-Neto G.

Thyroid. 2003 Dec;13(12):1145-51.

PMID:
14751036
14.

Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.

Kühnen P, Turan S, Fröhler S, Güran T, Abali S, Biebermann H, Bereket A, Grüters A, Chen W, Krude H.

J Clin Endocrinol Metab. 2014 Jan;99(1):E169-76. doi: 10.1210/jc.2013-2619. Epub 2013 Dec 20.

PMID:
24248179
15.

Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.

Tajima T, Tsubaki J, Fujieda K.

Endocr J. 2005 Oct;52(5):643-5.

16.

Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.

Umeki K, Kotani T, Kawano J, Suganuma T, Yamamoto I, Aratake Y, Furujo M, Ichiba Y.

Eur J Endocrinol. 2002 Apr;146(4):491-8.

17.

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
18.

Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.

Bogazzi F, Russo D, Raggi F, Ultimieri F, Berrettini S, Forli F, Grasso L, Ceccarelli C, Mariotti S, Pinchera A, Bartalena L, Martino E.

J Endocrinol Invest. 2004 May;27(5):430-5.

PMID:
15279074
19.

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
20.

Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.

Palos F, García-Rendueles ME, Araujo-Vilar D, Obregon MJ, Calvo RM, Cameselle-Teijeiro J, Bravo SB, Perez-Guerra O, Loidi L, Czarnocka B, Alvarez P, Refetoff S, Dominguez-Gerpe L, Alvarez CV, Lado-Abeal J.

J Clin Endocrinol Metab. 2008 Jan;93(1):267-77. Epub 2007 Oct 16.

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