-
1
-
-
0019467747
-
Effects of neonatal screening for hypothyroidism: Prevention of mental retardation by treatment before clinical manifestation
-
New England congenital hypothyroidism collaborative
-
New England congenital hypothyroidism collaborative. Effects of neonatal screening for hypothyroidism: prevention of mental retardation by treatment before clinical manifestation. Lancet 1981, 318: 1095-8.
-
(1981)
Lancet
, vol.318
, pp. 1095-1098
-
-
-
2
-
-
0033306083
-
A search for the possible molecular mechanisms of thyroid dysgenesis: Sex ratios and associated malformations
-
Devos H, Rodd C, Gagne N, Laframboise R, Van Vliet G. A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations. J Clin Endocrinol Metab 1999, 84: 2502-6.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 2502-2506
-
-
Devos, H.1
Rodd, C.2
Gagne, N.3
Laframboise, R.4
Van Vliet, G.5
-
3
-
-
33646772555
-
Congenital hypothyroidism: From paracelsus to molecular diagnosis
-
Djemli A, Van Vliet G, Delvin EE. Congenital hypothyroidism: From paracelsus to molecular diagnosis. Clin Biochem 2006, 39: 511-8.
-
(2006)
Clin Biochem
, vol.39
, pp. 511-518
-
-
Djemli, A.1
Van Vliet, G.2
Delvin, E.E.3
-
4
-
-
18844400822
-
Genetics of congenital hypothyroidism
-
Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet 2005, 42: 379-89.
-
(2005)
J Med Genet
, vol.42
, pp. 379-389
-
-
Park, S.M.1
Chatterjee, V.K.2
-
5
-
-
0023948591
-
Congenital abnormalities and congenital hypothyroidism
-
Lazarus JH, Hughes IA. Congenital abnormalities and congenital hypothyroidism. Lancet 1988, 2: 52.
-
(1988)
Lancet
, vol.2
, pp. 52
-
-
Lazarus, J.H.1
Hughes, I.A.2
-
6
-
-
0026723020
-
Congenital actions lies concomitant with persistent primary congenital hypothyroidism
-
Siebner R, Merlob P, Kaiserman I, Sack J. Congenital actions lies concomitant with persistent primary congenital hypothyroidism. Am J Med Genet 1992, 44: 57-60.
-
(1992)
Am J Med Genet
, vol.44
, pp. 57-60
-
-
Siebner, R.1
Merlob, P.2
Kaiserman, I.3
Sack, J.4
-
7
-
-
0033010634
-
Congenital anomalies associated with congenital hypothyroidism
-
Stoll C, Dott B, Alembik Y, Koehl C. Congenital anomalies associated with congenital hypothyroidism. Ann Genet 1999, 42: 17-20.
-
(1999)
Ann Genet
, vol.42
, pp. 17-20
-
-
Stoll, C.1
Dott, B.2
Alembik, Y.3
Koehl, C.4
-
8
-
-
18244368524
-
A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: Data from the Italian Registry for Congenital Hypothyroidism (1991-1998)
-
Study-Group for Congenital Hypothyroidism
-
Olivieri A, Stazi MA, Mastroiacovo P, et al. Study-Group for Congenital Hypothyroidism A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998). J Clin Endocrinol Metab 2002, 87: 557-62.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 557-562
-
-
Olivieri, A.1
Stazi, M.A.2
Mastroiacovo, P.3
-
9
-
-
14844309419
-
High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism
-
Kreisner E, Camargo-Neto E, Gross JL. High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism. Thyroid 2005, 15: 166-70.
-
(2005)
Thyroid
, vol.15
, pp. 166-170
-
-
Kreisner, E.1
Camargo-Neto, E.2
Gross, J.L.3
-
10
-
-
5444271023
-
Thyroid development and its disorders: Genetics and molecular mechanisms
-
De Felice M, Di Lauro R. Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 2004, 25: 722-46.
-
(2004)
Endocr Rev
, vol.25
, pp. 722-746
-
-
De Felice, M.1
Di Lauro, R.2
-
11
-
-
33646034932
-
Missense mutation in the transcription factor NKX2-5: A novel molecular event in the pathogenesis of thyroid dysgenesis
-
Dentice M, Cordeddu V, Rosica A, et al. Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab 2006, 91: 1428-33.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1428-1433
-
-
Dentice, M.1
Cordeddu, V.2
Rosica, A.3
-
12
-
-
0030983833
-
Mutations in the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism
-
Biebermann H, Schoneberg T, Krude H, Schuktz G, Gudermann T, Gruters A. Mutations in the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab 1997, 82: 3471-80.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 3471-3480
-
-
Biebermann, H.1
Schoneberg, T.2
Krude, H.3
Schuktz, G.4
Gudermann, T.5
Gruters, A.6
-
13
-
-
0030994365
-
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
-
Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrich C. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 1997, 99: 3018-24.
-
(1997)
J Clin Invest
, vol.99
, pp. 3018-3024
-
-
Abramowicz, M.J.1
Duprez, L.2
Parma, J.3
Vassart, G.4
Heinrich, C.5
-
14
-
-
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, Muke T. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 2000, 137: 272-6.
-
(2000)
J Pediatr
, vol.137
, pp. 272-276
-
-
Iwatani, N.1
Mabe, H.2
Devriendt, K.3
Kodama, M.4
Muke, T.5
-
15
-
-
0031820442
-
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
-
Clifton-Bligh RJ, Wentworth JM, Heinz P, et al. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 1998, 19: 399-401.
-
(1998)
Nat Genet
, vol.19
, pp. 399-401
-
-
Clifton-Bligh, R.J.1
Wentworth, J.M.2
Heinz, P.3
-
16
-
-
0037101847
-
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis, and cleft palate
-
Castanet M, Park SM, Smith A, et al. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis, and cleft palate. Hum Mol Genet 2002, 11. 2051-9.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2051-2059
-
-
Castanet, M.1
Park, S.M.2
Smith, A.3
-
17
-
-
17344374131
-
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
-
Macchia PE, Lapi P, Krude H, et al. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 1998, 19: 83-6.
-
(1998)
Nat Genet
, vol.19
, pp. 83-86
-
-
Macchia, P.E.1
Lapi, P.2
Krude, H.3
-
18
-
-
0034885770
-
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, Noguiera CR, Habiby RL, Medeiros Neto G, Kopp P. A novel mutation (Q40P) in Pax8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. J Clin Endocrinol Metab 2001, 86: 3962-7.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3962-3967
-
-
Congdon, T.1
Nguyen, L.Q.2
Noguiera, C.R.3
Habiby, R.L.4
Medeiros Neto, G.5
Kopp, P.6
-
19
-
-
18344404449
-
TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation
-
Zannini M, Avantaggiato V, Biffali E, et al. TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation. EMBO J 1997, 16: 3185-97.
-
(1997)
EMBO J
, vol.16
, pp. 3185-3197
-
-
Zannini, M.1
Avantaggiato, V.2
Biffali, E.3
-
20
-
-
12244250148
-
PAX8, TITF1, and FOXE1 gene expression patterns during human development: New insights into human thyroid development and thyroid dysgenesis-associated malformations
-
Trueba SS, Auge J, Mattei G, et al. PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab 2005, 90: 455-62.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 455-462
-
-
Trueba, S.S.1
Auge, J.2
Mattei, G.3
-
21
-
-
0032730383
-
Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2)
-
Macchia PE, Mattei MG, Lapi P, Fenzi G, Di Lauro R. Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2). Biochimie 1999, 81: 433-40.
-
(1999)
Biochimie
, vol.81
, pp. 433-440
-
-
Macchia, P.E.1
Mattei, M.G.2
Lapi, P.3
Fenzi, G.4
Di Lauro, R.5
-
22
-
-
0034804293
-
Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis
-
Hishinuma A, Ohyama Y, Kuribayashi T, et al. Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis. Eur J Endocrinol 2001, 145: 385-9.
-
(2001)
Eur J Endocrinol
, vol.145
, pp. 385-389
-
-
Hishinuma, A.1
Ohyama, Y.2
Kuribayashi, T.3
-
23
-
-
33645819802
-
An investigation into FOXE1 polyalanine tract length in premature ovarian failure
-
Watkins WJ, Harris SE, Craven MJ, et al. An investigation into FOXE1 polyalanine tract length in premature ovarian failure. Mol Hum Reprod 2006, 12: 145-9.
-
(2006)
Mol Hum Reprod
, vol.12
, pp. 145-149
-
-
Watkins, W.J.1
Harris, S.E.2
Craven, M.J.3
-
24
-
-
10744223971
-
Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains
-
Lavoie H, Debeane F, Trinh QD, et al. Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Hum Mol Genet 2003, 12: 2967-79.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2967-2979
-
-
Lavoie, H.1
Debeane, F.2
Trinh, Q.D.3
-
25
-
-
5444272310
-
Polyalanine expansions in human
-
Amiel J, Trochet D, Clément-Ziza M, Munnich A, Lyonnet S. Polyalanine expansions in human. Hum Mol Genet 2004, 13: 235-43.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 235-243
-
-
Amiel, J.1
Trochet, D.2
Clément-Ziza, M.3
Munnich, A.4
Lyonnet, S.5
-
26
-
-
4143137652
-
Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate
-
Tonacchera M, Banco M, Lapi P, et al. Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. Thyroid 2004, 14: 584-8.
-
(2004)
Thyroid
, vol.14
, pp. 584-588
-
-
Tonacchera, M.1
Banco, M.2
Lapi, P.3
-
27
-
-
0141659332
-
Human malformation terminology
-
In: Stevenson RE, Hall JG, Goodman RM eds. Oxford: Oxford University Press
-
Stevenson RE, Hall JG. Human malformation terminology. In: Stevenson RE, Hall JG, Goodman RM eds. Human malformation and related anomalies. Oxford: Oxford University Press. 1993, 21-30.
-
Human Malformation and Related Anomalies
, vol.1993
, pp. 21-30
-
-
Stevenson, R.E.1
Hall, J.G.2
-
28
-
-
3142624435
-
Mutations in the TTF-2 gene are not a common finding in patients with isolated cleft palate and choanal atresia
-
Venza M, Santarpia L, De Ponte FS, D'Alcontres Stagno F, Teti D, Benvenga S. Mutations in the TTF-2 gene are not a common finding in patients with isolated cleft palate and choanal atresia. J End Genet 2003, 3: 135-40.
-
(2003)
J End Genet
, vol.3
, pp. 135-140
-
-
Venza, M.1
Santarpia, L.2
De Ponte, F.S.3
D'Alcontres Stagno, F.4
Teti, D.5
Benvenga, S.6
-
29
-
-
0347418199
-
Alanine tracts: The expanding story of human illness and trinucleotide repeats
-
Brown LY, Brown SA. Alanine tracts: the expanding story of human illness and trinucleotide repeats. Trends Genet 2004, 20: 51-8.
-
(2004)
Trends Genet
, vol.20
, pp. 51-58
-
-
Brown, L.Y.1
Brown, S.A.2
-
30
-
-
0033592988
-
Genetic epidemiology of single-nucleotide polymorphisms
-
Collins A, Lonjou C, Morton NE. Genetic epidemiology of single-nucleotide polymorphisms. Proc Natl Acad Sci USA 1999, 96: 15173-7.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 15173-15177
-
-
Collins, A.1
Lonjou, C.2
Morton, N.E.3
-
31
-
-
0036137130
-
Linkage disequilibrium and the mapping of complex human traits
-
Weiss KM, Cark AG. Linkage disequilibrium and the mapping of complex human traits. Trends Genet 2002, 18: 19-24.
-
(2002)
Trends Genet
, vol.18
, pp. 19-24
-
-
Weiss, K.M.1
Cark, A.G.2
|