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Items: 1 to 20 of 456

1.

Genetics of congenital hypothyroidism.

Park SM, Chatterjee VK.

J Med Genet. 2005 May;42(5):379-89. Review.

2.

[The thyroid as a model for molecular mechanisms in genetic diseases].

Rivolta CM, Moya CM, Esperante SA, Gutnisky VJ, Varela V, Targovnik HM.

Medicina (B Aires). 2005;65(3):257-67. Review. Spanish.

PMID:
16042141
3.

Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.

Vono-Toniolo J, Kopp P.

Arq Bras Endocrinol Metabol. 2004 Feb;48(1):70-82. Epub 2004 Jun 1. Review.

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.

Athyreosis, dysgenesis, and dyshormonogenesis in congenital hypothyroidism.

Topaloglu AK.

Pediatr Endocrinol Rev. 2006 Aug;3 Suppl 3:498-502. Review. Erratum in: Pediatr Endocrinol Rev. 2007 Sep;5(1):470.

PMID:
17551472
6.

Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V).

Fricke-Otto S, Pfarr N, Mühlenberg R, Pohlenz J.

Exp Clin Endocrinol Diabetes. 2005 Dec;113(10):582-5.

PMID:
16320156
7.
8.

Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.

Pfarr N, Korsch E, Kaspers S, Herbst A, Stach A, Zimmer C, Pohlenz J.

Clin Endocrinol (Oxf). 2006 Dec;65(6):810-5. Review.

PMID:
17121535
9.

Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C.

N Engl J Med. 2002 Jul 11;347(2):95-102.

10.

Congenital hypothyroidism: from paracelsus to molecular diagnosis.

Djemli A, Van Vliet G, Delvin EE.

Clin Biochem. 2006 May;39(5):511-8. Epub 2006 Apr 20. Review.

PMID:
16730255
11.

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.

Castanet M, Park SM, Smith A, Bost M, Léger J, Lyonnet S, Pelet A, Czernichow P, Chatterjee K, Polak M.

Hum Mol Genet. 2002 Aug 15;11(17):2051-9.

PMID:
12165566
12.

Congenital hypothyroidism: etiologies, diagnosis, and management.

LaFranchi S.

Thyroid. 1999 Jul;9(7):735-40. Review.

PMID:
10447022
13.

[Molecular-genetic aspects of congenital hypothyroidism].

Lacka K, Ogrodowicz A.

Med Wieku Rozwoj. 2004 Jul-Sep;8(3 Pt 2):678-89. Review. Polish.

PMID:
15858240
14.

Molecular pathogenesis of neonatal hypothyroidism.

Krude H, Biebermann H, Schnabel D, Ambrugger P, Grüters A.

Horm Res. 2000;53 Suppl 1:12-8. Review.

PMID:
10895037
15.

The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis.

Krude H, Biebermann H, Göpel W, Grüters A.

Exp Clin Endocrinol Diabetes. 1996;104 Suppl 4:117-20. Review.

PMID:
8981017
16.

Genetic causes of congenital hypothyroidism due to dyshormonogenesis.

Grasberger H, Refetoff S.

Curr Opin Pediatr. 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. Review.

17.

[Genetic aspects in congenital hypothyrodism].

Perone D, Teixeira SS, Clara SA, Santos DC, Nogueira CR.

Arq Bras Endocrinol Metabol. 2004 Feb;48(1):62-9. Epub 2004 Jun 1. Review. Portuguese.

18.

Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism.

Grüters A, Köhler B, Wolf A, Söling A, de Vijlder L, Krude H, Biebermann H.

Exp Clin Endocrinol Diabetes. 1996;104 Suppl 4:121-3.

PMID:
8981018
19.

TSH resistance revisited.

Narumi S, Hasegawa T.

Endocr J. 2015;62(5):393-8. doi: 10.1507/endocrj.EJ15-0131. Epub 2015 Mar 21. Review.

20.

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.

Cangul H, Aycan Z, Saglam H, Forman JR, Cetinkaya S, Tarim O, Bober E, Cesur Y, Kurtoglu S, Darendeliler F, Bas V, Eren E, Demir K, Kiraz A, Aydin BK, Karthikeyan A, Kendall M, Boelaert K, Shaw NJ, Kirk J, Högler W, Barrett TG, Maher ER.

J Pediatr Endocrinol Metab. 2012;25(5-6):419-26.

PMID:
22876533

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