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Results: 1 to 20 of 26

1.

A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.

Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P.

J Clin Endocrinol Metab. 2001 Aug;86(8):3962-7.

PMID:
11502839
[PubMed - indexed for MEDLINE]
2.

Congenital hypothyroidism: etiologies, diagnosis, and management.

LaFranchi S.

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

PMID:
10447022
[PubMed - indexed for MEDLINE]
3.

[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
[PubMed - indexed for MEDLINE]
4.

Development of the thyroid gland: lessons from congenitally hypothyroid mice and men.

Van Vliet G.

Clin Genet. 2003 Jun;63(6):445-55. Review.

PMID:
12786749
[PubMed - indexed for MEDLINE]
5.

Genetic regulation of thyroid development.

Gillam MP, Kopp P.

Curr Opin Pediatr. 2001 Aug;13(4):358-63. Review.

PMID:
11717563
[PubMed - indexed for MEDLINE]
6.

[Congenital hypothyroidism. Molecular defects in familial disease].

Polak M.

Ann Endocrinol (Paris). 2003 Feb;64(1):54-7. Review. French. No abstract available.

PMID:
12707636
[PubMed - indexed for MEDLINE]
7.

Recent advances in understanding the molecular basis of primary congenital hypothyroidism.

Macchia PE.

Mol Med Today. 2000 Jan;6(1):36-42. Review.

PMID:
10637573
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

Neonatal thyroid disorders.

Grüters A, Biebermann H, Krude H.

Horm Res. 2003;59 Suppl 1:24-9. Review.

PMID:
12566717
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.

Montanelli L, Tonacchera M.

Mol Cell Endocrinol. 2010 Jun 30;322(1-2):64-71. doi: 10.1016/j.mce.2010.03.009. Epub 2010 Mar 17. Review.

PMID:
20302910
[PubMed - indexed for MEDLINE]
12.

Perspective: genetic defects in the etiology of congenital hypothyroidism.

Kopp P.

Endocrinology. 2002 Jun;143(6):2019-24. Review.

PMID:
12021164
[PubMed - indexed for MEDLINE]
13.

Molecular abnormalities of organogenesis and differentiation of the thyroid gland.

Di Lauro R.

Ann Endocrinol (Paris). 2003 Feb;64(1):53. Review. No abstract available.

PMID:
12707635
[PubMed - indexed for MEDLINE]
14.

The molecular causes of thyroid dysgenesis: a systematic review.

Nettore IC, Cacace V, De Fusco C, Colao A, Macchia PE.

J Endocrinol Invest. 2013 Sep;36(8):654-64. doi: 10.3275/8973. Epub 2013 May 22. Review.

PMID:
23698639
[PubMed - indexed for MEDLINE]
15.

[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
[PubMed - indexed for MEDLINE]
16.

Alterations of neonatal thyroid function.

Grüters A, Krude H, Biebermann H, Liesenkötter KP, Schöneberg T, Gudermann T.

Acta Paediatr Suppl. 1999 Feb;88(428):17-22. Review.

PMID:
10102047
[PubMed - indexed for MEDLINE]
17.

[Molecular endocrinology of thyroid diseases].

Meier CA.

Schweiz Med Wochenschr. 1995 Dec 9;125(49):2367-78. Review. German.

PMID:
8848697
[PubMed - indexed for MEDLINE]
18.

Familial unresponsiveness to thyrotropin by autosomal recessive inheritance.

Takamatsu J, Nishikawa M, Horimoto M, Ohsawa N.

J Clin Endocrinol Metab. 1993 Dec;77(6):1569-73. Review.

PMID:
8263143
[PubMed - indexed for MEDLINE]
19.

Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism.

Medeiros-Neto G, Targovnik HM, Vassart G.

Endocr Rev. 1993 Apr;14(2):165-83. Review. Erratum in: Endocr Rev 1994 Aug;15(4):438.

PMID:
8325250
[PubMed - indexed for MEDLINE]
20.

Genetics of normal and abnormal thyroid development in humans.

Szinnai G.

Best Pract Res Clin Endocrinol Metab. 2014 Mar;28(2):133-50. doi: 10.1016/j.beem.2013.08.005. Epub 2013 Aug 20. Review.

PMID:
24629857
[PubMed - indexed for MEDLINE]

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