-
1
-
-
2342665712
-
Definitive diagnosis in children with congenital hypothyroidism
-
Eugster EA, LeMay D, Zerin JM, Pescovitz OH. Definitive diagnosis in children with congenital hypothyroidism. J Pediatr 2004; 144: 643-647.
-
(2004)
J Pediatr
, vol.144
, pp. 643-647
-
-
Eugster, E.A.1
LeMay, D.2
Zerin, J.M.3
Pescovitz, O.H.4
-
3
-
-
0027376596
-
Thyrotropin-releasing hormone stimulation tests in infants
-
DOI 10.1210/jc.77.4.889
-
Rapaport R, Sills I, Patel U, Oppenheimer E, Skuza K, Horlick M, et al. Thyrotropin-releasing hormone stimulation tests in infants. J Clin Endocrinol Metab 1993; 77: 889-894. (Pubitemid 23301459)
-
(1993)
Journal of Clinical Endocrinology and Metabolism
, vol.77
, Issue.4
, pp. 889-894
-
-
Rapaport, R.1
Sills, I.2
Patel, U.3
Oppenheimer, E.4
Skuza, K.5
Horlick, M.6
Goldstein, S.7
Dimartino, J.8
Saenger, P.9
-
5
-
-
0024375696
-
Structure of the human thyroid peroxidase gene: Comparison and relationship to the human myeloperoxidasae gene
-
DOI 10.1021/bi00436a054
-
Kimura S, Hong YS, Kotan T, Ohtaki S, Kikkawa F. Structure of the human thyroid peroxidase gene: comparison and relationship to the human myeloperoxidase gene. Biochemistry 1989; 28: 4481-4489. (Pubitemid 19141661)
-
(1989)
Biochemistry
, vol.28
, Issue.10
, pp. 4481-4489
-
-
Kimura, S.1
Hong, Y.-S.2
Kotani, T.3
Ohtaki, S.4
Kikkawa, F.5
-
6
-
-
0347993689
-
Thyroperoxidase Gene Mutations in Congenital Goitrous Hypothyroidism with Total and Partial Iodide Organification Defect
-
Nascimento AC, Guedes DR, Santos CS, Knobel M, Rubio IG, Medeiros-Neto G. Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect. Thyroid 2003; 13: 1145-1151. (Pubitemid 38032400)
-
(2003)
Thyroid
, vol.13
, Issue.12
, pp. 1145-1151
-
-
Nascimento, A.C.1
Guedes, D.R.2
Santos, C.S.3
Knobel, M.4
Rubio, I.G.S.5
Medeiros-Neto, G.6
-
7
-
-
0037063119
-
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism
-
DOI 10.1056/NEJMoa012752
-
Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 2002; 347: 95-102. (Pubitemid 34753479)
-
(2002)
New England Journal of Medicine
, vol.347
, Issue.2
, pp. 95-102
-
-
Moreno, J.C.1
Bikker, H.2
Kempers, M.J.E.3
Paul Van Trotsenburg, A.S.4
Baas, F.5
De Vijlder, J.J.M.6
Vulsma, T.7
Ris-Stalpers, C.8
-
8
-
-
16944362537
-
Pendred syndrome: Evidence for genetic homogeneity and further refinement of linkage
-
Gausden E, Coyle B, Armour JA, Coffey R, Grossman A, Fraser GR, Winter RM, Pembrey ME, Kendall-Taylor P, Stephens D, Luxon LM, Phelps PD, Reardon W, Trembath R. Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. J Med Genet 1997; 34: 126-129. (Pubitemid 27077940)
-
(1997)
Journal of Medical Genetics
, vol.34
, Issue.2
, pp. 126-129
-
-
Gausden, E.1
Coyle, B.2
Armour, J.A.L.3
Coffey, R.4
Grossman, A.5
Fraser, G.R.6
Winter, R.M.7
Pembrey, M.E.8
Kendall-Taylor, P.9
Stephens, D.10
Luxon, L.M.11
Phelps, P.D.12
Reardon, W.13
Trembath, R.14
-
9
-
-
0034067281
-
Thyroid gland volume and urinary iodine excretion in children 6-11 years old in an endemic area
-
Semiz S, Senol U, Bircan O, Gümüslü S, Akcurin S, Bircan I. Thyroid gland volume and urinary iodine excretion in children 6-11 years old in an endemic area. J Pediatr Endocrinol Metab 2000; 13: 245-251. (Pubitemid 30163748)
-
(2000)
Journal of Pediatric Endocrinology and Metabolism
, vol.13
, Issue.3
, pp. 245-251
-
-
Semiz, S.1
Senol, U.2
Bircan, O.3
Gumuslu, S.4
Akcurin, S.5
Bircan, I.6
-
10
-
-
0002891565
-
Normal thyroid volume of children in Turkey: Pilot study in Kayseri province
-
Kurtoglu S, Covut IE, Kendirci M, Uzum K, Durak AC, Kiris A. Normal thyroid volume of children in Turkey: pilot study in Kayseri province. IDD Newsletter 1995; 11: 41-42.
-
(1995)
IDD Newsletter
, vol.11
, pp. 41-42
-
-
Kurtoglu, S.1
Covut, I.E.2
Kendirci, M.3
Uzum, K.4
Durak, A.C.5
Kiris, A.6
-
11
-
-
0026080111
-
A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
-
Lahiri DK, Nurnberger JI. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acid Res 1991; 19: 5444.
-
(1991)
Nucleic Acid Res
, vol.19
, pp. 5444
-
-
Lahiri, D.K.1
Nurnberger, J.I.2
-
12
-
-
0029039137
-
Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis
-
Bikker H, Vulsma T, Baas F, de Vijlder JJ. Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. Hum Mutat 1995; 6: 9-16.
-
(1995)
Hum Mutat
, vol.6
, pp. 9-16
-
-
Bikker, H.1
Vulsma, T.2
Baas, F.3
De Vijlder, J.J.4
-
13
-
-
34249079113
-
High prevelance if thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis
-
DOI 10.1530/EJE-07-0037
-
Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T. High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. Eur J Endocrinol 2007; 156: 511-519. (Pubitemid 46796517)
-
(2007)
European Journal of Endocrinology
, vol.156
, Issue.5
, pp. 511-519
-
-
Avbelj, M.1
Tahirovic, H.2
Debeljak, M.3
Kusekova, M.4
Toromanovic, A.5
Krzisnik, C.6
Battelino, T.7
-
14
-
-
0025965435
-
Persistent hyperthyrotropinaemia since the neonatal period in clinically euthyroid children
-
Tyfield LA, Abusrewil SS, Jones SR, Savage DC. Persistent hyperthyrotropinaemia since the neonatal period in clinically euthyroid children. Eur J Pediatr 1991; 150: 308-309.
-
(1991)
Eur J Pediatr
, vol.150
, pp. 308-309
-
-
Tyfield, L.A.1
Abusrewil, S.S.2
Jones, S.R.3
Savage, D.C.4
-
15
-
-
0036738454
-
High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect
-
Niu DM, Hwang B, Chu YK, Liao CJ, Wang PL, Lin CY. High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect. J Clin Endocrinol Metab 2002; 87: 4208-4212.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4208-4212
-
-
Niu, D.M.1
Hwang, B.2
Chu, Y.K.3
Liao, C.J.4
Wang, P.L.5
Lin, C.Y.6
-
16
-
-
33745060185
-
Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings
-
Vigone MC, Fugazzola L, Zamproni I, Passoni A, Di Candia S, Chiumello G, Persani L, Weber G. Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. Hum Mutat 2005; 26: 395.
-
(2005)
Hum Mutat
, vol.26
, pp. 395
-
-
Vigone, M.C.1
Fugazzola, L.2
Zamproni, I.3
Passoni, A.4
Di Candia, S.5
Chiumello, G.6
Persani, L.7
Weber, G.8
-
17
-
-
18444389956
-
Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism
-
DOI 10.1210/jc.87.6.2549
-
Alberti L, Proverbio MC, Costagliola S, Romoli R, Boldrighini B, Vigone MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L. Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 2002; 87: 2549-2555. (Pubitemid 34655312)
-
(2002)
Journal of Clinical Endocrinology and Metabolism
, vol.87
, Issue.6
, pp. 2549-2555
-
-
Alberti, L.1
Proverbio, M.C.2
Costagliola, S.3
Romoli, R.4
Boldrighini, B.5
Vigone, M.C.6
Weber, G.7
Chiumello, G.8
Beck-Peccoz, P.9
Persani, L.10
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