-
1
-
-
1042288131
-
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor
-
(Oxf)
-
Park SM, Clifton-Bligh RJ, Betts P and 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) 60: 220-227, 2004.
-
(2004)
Clin Endocrinol
, vol.60
, pp. 220-227
-
-
Park, S.M.1
Clifton-Bligh, R.J.2
Betts, P.3
Chatterjee, V.K.4
-
2
-
-
77952876312
-
Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
-
Targovnik HM, Esperante SA and Rivolta CM: Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations. Mol Cell Endocrinol 322: 44-55, 2010.
-
(2010)
Mol Cell Endocrinol
, vol.322
, pp. 44-55
-
-
Targovnik, H.M.1
Esperante, S.A.2
Rivolta, C.M.3
-
4
-
-
33745060185
-
Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings
-
Vigone MC, Fugazzola L, Zamproni I, et al: Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. Hum Mutat 26: 395, 2005.
-
(2005)
Hum Mutat
, vol.26
, pp. 395
-
-
Vigone, M.C.1
Fugazzola, L.2
Zamproni, I.3
-
5
-
-
0036056296
-
Characterization of ThOX proteins as components of the thyroid H(2)O(2)-generating system
-
De Deken X, Wang D, Dumont J, et al: Characterization of ThOX proteins as components of the thyroid H(2)O(2)-generating system. Exp Cell Res 273: 187-196, 2002.
-
(2002)
Exp Cell Res
, vol.273
, pp. 187-196
-
-
De Deken, X.1
Wang, D.2
Dumont, J.3
-
6
-
-
0037063119
-
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism
-
Moreno JC, Bikker H, Kempers MJ, et al: Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 347: 95-102, 2002.
-
(2002)
N Engl J Med
, vol.347
, pp. 95-102
-
-
Moreno, J.C.1
Bikker, H.2
Kempers, M.J.3
-
7
-
-
31844445842
-
Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect
-
Varela V, Rivolta CM, Esperante SA, et al: Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect. Clin Chem 52: 182-191, 2006.
-
(2006)
Clin Chem
, vol.52
, pp. 182-191
-
-
Varela, V.1
Rivolta, C.M.2
Esperante, S.A.3
-
8
-
-
77950386307
-
Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism
-
Hoste C, Rigutto S, Van Vliet G, et al: Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism. Hum Mutat 31: E1304-E1319, 2010.
-
(2010)
Hum Mutat
, vol.31
-
-
Hoste, C.1
Rigutto, S.2
Van Vliet, G.3
-
9
-
-
33751109713
-
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene
-
(Oxf)
-
Pfarr N, Korsch E, Kaspers S, et al: Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. Clin Endocrinol (Oxf) 65: 810-815, 2006.
-
(2006)
Clin Endocrinol
, vol.65
, pp. 810-815
-
-
Pfarr, N.1
Korsch, E.2
Kaspers, S.3
-
10
-
-
33745821178
-
Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent
-
Grasberger H and Refetoff S: Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. J Biol Chem 281: 18269-18272, 2006.
-
(2006)
J Biol Chem
, vol.281
, pp. 18269-18272
-
-
Grasberger, H.1
Refetoff, S.2
-
11
-
-
39049092782
-
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism
-
Zamproni I, Grasberger H, Cortinovis F, et al: Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab 93: 605-610, 2008.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 605-610
-
-
Zamproni, I.1
Grasberger, H.2
Cortinovis, F.3
-
12
-
-
0041328169
-
An outline of inherited disorders of the thyroid hormone generating system
-
Knobel M and Medeiros-Neto G: An outline of inherited disorders of the thyroid hormone generating system. Thyroid 13: 771-802, 2003.
-
(2003)
Thyroid
, vol.13
, pp. 771-802
-
-
Knobel, M.1
Medeiros-Neto, G.2
-
13
-
-
84886800679
-
Analysis of four-year congenital hypothyroidism neonatal screening in Jiudi City, Fujian Province
-
Zhu W, Wang Z, Chen H, et al: Analysis of four-year congenital hypothyroidism neonatal screening in Jiudi City, Fujian Province. Zhong Guo You Sheng You Yu Za Zhi 12: 97-98, 2005.
-
(2005)
Zhong Guo You Sheng You Yu Za Zhi
, vol.12
, pp. 97-98
-
-
Zhu, W.1
Wang, Z.2
Chen, H.3
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