1 |
Wu W, Cogan JD, Pfaffle RW, Dasen JS, Frisch H, O'Connell SM, et al. Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet 1998;18:147-9.
DOI
ScienceOn
|
2 |
Becks GP, Burrow GN. Thyroid disease and pregnancy. Med Clin North Am 1991;75:121-50.
DOI
|
3 |
Corvilain B, van Sande J, Laurent E, Dumont JE. The H2O2-generating system modulates protein iodination and the activity of the pentose phosphate pathway in dog thyroid. Endocrinology 1991;128:779-85.
DOI
ScienceOn
|
4 |
Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, et al. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 2002;347:95-102.
DOI
ScienceOn
|
5 |
Berge-Lefranc JL, Cartouzou G, Mattei MG, Passage E, Malezet-Desmoulins C, Lissitzky S. Localization of the thyroglobulin gene by in situ hybridization to human chromosomes. Hum Genet 1985;69:28-31.
DOI
|
6 |
Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17:411-22.
DOI
ScienceOn
|
7 |
Reardon W, Trembath RC. Pendred syndrome. J Med Genet 1996;33:1037-40.
DOI
|
8 |
Doyle DA, Gonzalez I, Thomas B, Scavina M. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr 2004;145:190-3.
DOI
ScienceOn
|
9 |
De Felice M, Ovitt C, Biffali E, Rodriguez-Mallon A, Arra C, Anastassiadis K, et al. A mouse model for hereditary thyroid dysgenesis and cleft palate. Nat Genet 1998;19:395-8.
DOI
ScienceOn
|
10 |
Pasca di Magliano M, Di Lauro R, Zannini M. Pax8 has a key role in thyroid cell differentiation. Proc Natl Acad Sci U S A 2000;97:13144-9.
DOI
ScienceOn
|
11 |
Fraizer GC, Shimamura R, Zhang X, Saunders GF. PAX 8 regulates human WT1 transcription through a novel DNA binding site. J Biol Chem 1997;272:30678-87.
DOI
|
12 |
Dai G, Levy O, Carrasco N. Cloning and characterization of the thyroid iodide transporter. Nature 1996; 379:458-60.
DOI
ScienceOn
|
13 |
Mangklabruks A, Billerbeck AE, Wajchenberg B, Knobel M, Cox NJ, DeGroot LJ, et al. Genetic linkage studies of thyroid peroxidase (TPO) gene in families with TPO deficiency. J Clin Endocrinol Metab 1991; 72:471-6.
DOI
|
14 |
Yuan ZF, Mao HQ, Luo YF, Wu YD, Shen Z, Zhao ZY. Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism. Endocr J 2008;55:415-23.
DOI
ScienceOn
|
15 |
Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, et al. High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. Eur J Endocrinol 2007; 156:511-9.
DOI
ScienceOn
|
16 |
Collu R, Tang J, Castagne J, Lagace G, Masson N, Huot C, et al. A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. J Clin Endocrinol Metab 1997;82:1561-5.
DOI
ScienceOn
|
17 |
Sunthornthepvarakui T, Gottschalk ME, Hayashi Y, Refetoff S. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med 1995;332:155-60
DOI
ScienceOn
|
18 |
Toublanc JE. Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world. Horm Res 1992;38:230-5.
DOI
|
19 |
Kanda K, Mizuno H, Sugiyama Y, Imamine H, Togari H, Onigata K. Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese. Endocrine 2006; 30:383-8.
DOI
|
20 |
Lazzaro D, Price M, de Felice M, Di Lauro R. The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain. Development 1991;113: 1093-104.
|
21 |
Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet 2005;42:379-89.
DOI
|
22 |
Netchine I, Sobrier ML, Krude H, Schnabel D, Maghnie M, Marcos E, et al. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat Genet 2000;25:182-6.
DOI
ScienceOn
|
23 |
Park SM, Clifton-Bligh RJ, Betts P, Chatterjee VK. Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. Clin Endocrinol (Oxf) 2004;60:220-7.
DOI
ScienceOn
|
24 |
Friesema EC, Ganguly S, Abdalla A, Manning Fox JE, Halestrap AP, Visser TJ. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. J Biol Chem 2003;278:40128-35.
DOI
|
25 |
Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 2004;74:168-75.
DOI
ScienceOn
|
26 |
Pohlenz J, Dumitrescu A, Aumann U, Koch G, Melchior R, Prawitt D, et al. Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. J Clin Endocrinol Metab 2002;87:336-9.
DOI
ScienceOn
|
27 |
Radovick S, Nations M, Du Y, Berg LA, Weintraub BD, Wondisford FE. A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. Science 1992;257:1115-8.
DOI
|
28 |
Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Martensson IL, et al. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet 1998;19:125-33.
DOI
ScienceOn
|
29 |
Brucker-Davis F, Skarulis MC, Grace MB, Benichou J, Hauser P, Wiggs E, et al. Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health Prospective Study. Ann Intern Med 1995;123:572-83.
DOI
ScienceOn
|