-
1
-
-
33845271250
-
Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis
-
Beck-Peccoz P, Persani L, Calebiro D, Bonomi M, Mannavola D, Campi I (2006) Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis. Best Pract Res Clin Endocrinol Metab 20: 529-546.
-
(2006)
Best Pract Res Clin Endocrinol Metab
, vol.20
, pp. 529-546
-
-
Beck-Peccoz, P.1
Persani, L.2
Calebiro, D.3
Bonomi, M.4
Mannavola, D.5
Campi, I.6
-
2
-
-
0344876159
-
Resistance to thyrotropin
-
Refetoff S (2003) Resistance to thyrotropin. J Endocrinol Invest 26: 770-779.
-
(2003)
J Endocrinol Invest
, vol.26
, pp. 770-779
-
-
Refetoff, S.1
-
3
-
-
0026340586
-
The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain
-
Lazzaro D, Price M, de Felice M, Di Lauro R (1991) The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain. Development 113: 1093-1104.
-
(1991)
Development
, vol.113
, pp. 1093-1104
-
-
Lazzaro, D.1
Price, M.2
de Felice, M.3
Di Lauro, R.4
-
4
-
-
0242267051
-
Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor
-
Moeller LC, Kimura S, Kusakabe T, Liao XH, Van Sande J, Refetoff S (2003) Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor. Mol Endocrinol 17: 2295-2302.
-
(2003)
Mol Endocrinol
, vol.17
, pp. 2295-2302
-
-
Moeller, L.C.1
Kimura, S.2
Kusakabe, T.3
Liao, X.H.4
Van Sande, J.5
Refetoff, S.6
-
5
-
-
55049096250
-
-
Harada S, Matsuura N, Keiko S (2004) Report of Health Labour Sciences Research Grants (Research on Child and Families): Research on efficient execution of mass screening. Draft of consensus guideline for mild congenital hypothyroidism. 43-47 (In Japanese).
-
Harada S, Matsuura N, Keiko S (2004) Report of Health Labour Sciences Research Grants (Research on Child and Families): Research on efficient execution of mass screening. Draft of consensus guideline for mild congenital hypothyroidism. 43-47 (In Japanese).
-
-
-
-
6
-
-
3342973111
-
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1
-
Doyle DA, Gonzalez I, Thomas B, Scavina M (2004) Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr 145: 190-193.
-
(2004)
J Pediatr
, vol.145
, pp. 190-193
-
-
Doyle, D.A.1
Gonzalez, I.2
Thomas, B.3
Scavina, M.4
-
7
-
-
12144277942
-
Brain-thyroid-lung syndrome: A patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene
-
Willemsen MA, Breedveld GJ, Wouda S, Otten BJ, Yntema JL, Lammens M, de Vries BB (2005) Brain-thyroid-lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene. Eur J Pediatr 164: 28-30.
-
(2005)
Eur J Pediatr
, vol.164
, pp. 28-30
-
-
Willemsen, M.A.1
Breedveld, G.J.2
Wouda, S.3
Otten, B.J.4
Yntema, J.L.5
Lammens, M.6
de Vries, B.B.7
-
8
-
-
0036175892
-
Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice
-
Pohlenz J, Dumitrescu A, Zundel D, Martiné U, Schönberger W, Koo E, Weiss RE, Cohen RN, Kimura S, Refetoff S (2002) Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest 109: 469-473.
-
(2002)
J Clin Invest
, vol.109
, pp. 469-473
-
-
Pohlenz, J.1
Dumitrescu, A.2
Zundel, D.3
Martiné, U.4
Schönberger, W.5
Koo, E.6
Weiss, R.E.7
Cohen, R.N.8
Kimura, S.9
Refetoff, S.10
-
9
-
-
0042845864
-
Benign hereditary chorea: Clinical, genetic, and pathological findings
-
Kleiner-Fisman G, Rogaeva E, Halliday W, Houle S, Kawarai T, Sato C, Medeiros H, St George-Hyslop PH, Lang AE (2003) Benign hereditary chorea: clinical, genetic, and pathological findings. Ann Neurol 54: 244-247.
-
(2003)
Ann Neurol
, vol.54
, pp. 244-247
-
-
Kleiner-Fisman, G.1
Rogaeva, E.2
Halliday, W.3
Houle, S.4
Kawarai, T.5
Sato, C.6
Medeiros, H.7
St George-Hyslop, P.H.8
Lang, A.E.9
-
10
-
-
0036181474
-
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
-
Krude H, Schütz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tönnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Grüters A (2002) Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 109: 475-480.
-
(2002)
J Clin Invest
, vol.109
, pp. 475-480
-
-
Krude, H.1
Schütz, B.2
Biebermann, H.3
von Moers, A.4
Schnabel, D.5
Neitzel, H.6
Tönnies, H.7
Weise, D.8
Lafferty, A.9
Schwarz, S.10
DeFelice, M.11
von Deimling, A.12
van Landeghem, F.13
DiLauro, R.14
Grüters, A.15
-
11
-
-
0032580483
-
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure
-
Devriendt K, Vanhole C, Matthijs G, de Zegher F (1998) Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med 338: 1317-1318.
-
(1998)
N Engl J Med
, vol.338
, pp. 1317-1318
-
-
Devriendt, K.1
Vanhole, C.2
Matthijs, G.3
de Zegher, F.4
-
12
-
-
0033837870
-
Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
-
Iwatani N, Mabe H, Devriendt K, Kodama M, Miike T (2000) Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 137: 272-276.
-
(2000)
J Pediatr
, vol.137
, pp. 272-276
-
-
Iwatani, N.1
Mabe, H.2
Devriendt, K.3
Kodama, M.4
Miike, T.5
-
13
-
-
20444412260
-
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa
-
Asmus F, Horber V, Pohlenz J, Schwabe D, Zimprich A, Munz M, Schöning M, Gasser T (2005) A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. Neurology 64: 1952-1954.
-
(2005)
Neurology
, vol.64
, pp. 1952-1954
-
-
Asmus, F.1
Horber, V.2
Pohlenz, J.3
Schwabe, D.4
Zimprich, A.5
Munz, M.6
Schöning, M.7
Gasser, T.8
-
14
-
-
28344435213
-
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea
-
do Carmo Costa M, Costa C, Silva AP, Evangelista P, Santos L, Ferro A, Sequeiros J, Maciel P (2005) Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics 6: 209-215.
-
(2005)
Neurogenetics
, vol.6
, pp. 209-215
-
-
do Carmo1
Costa, M.2
Costa, C.3
Silva, A.P.4
Evangelista, P.5
Santos, L.6
Ferro, A.7
Sequeiros, J.8
Maciel, P.9
-
15
-
-
33646411749
-
Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress
-
Moya CM, Perez de Nanclares G, Castaño L, Potau N, Bilbao JR, Carrascosa A, Bargadá M, Coya R, Martul P, Vicens-Calvet E, Santisteban P (2006) Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress. J Clin Endocrinol Metab 91: 1832-1841.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1832-1841
-
-
Moya, C.M.1
Perez de Nanclares, G.2
Castaño, L.3
Potau, N.4
Bilbao, J.R.5
Carrascosa, A.6
Bargadá, M.7
Coya, R.8
Martul, P.9
Vicens-Calvet, E.10
Santisteban, P.11
|