-
1
-
-
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)
-
and The Study Group For Congenital Hypothyroidism
-
Olivieri A, Stazi MA, Mastroiacovo P, Fazzini C, Medda E, Spagnolo A, De Angelis S, Grandolfo ME, Taruscio D, Cordeddu V, Sorcini M, and The 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;87:557-562.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 557-562
-
-
Olivieri, A.1
Stazi, M.A.2
Mastroiacovo, P.3
Fazzini, C.4
Medda, E.5
Spagnolo, A.6
De Angelis, S.7
Grandolfo, M.E.8
Taruscio, D.9
Cordeddu, V.10
Sorcini, M.11
-
2
-
-
0019809256
-
Epidémiologie des hypothyroïdies congénitales malformatives
-
Gougard J, Safar A, Rolland A, Job JC: Epidémiologie des hypothyroïdies congénitales malformatives. Arch Fr Pédiatr 1981;38:875-879.
-
(1981)
Arch Fr Pédiatr
, vol.38
, pp. 875-879
-
-
Gougard, J.1
Safar, A.2
Rolland, A.3
Job, J.C.4
-
3
-
-
0026904349
-
Birth prevalence of primary congenital hypothyroidism by sex and ethnicity
-
Lorey FW, Cunningham GC: Birth prevalence of primary congenital hypothyroidism by sex and ethnicity. Hum Biol 1992;64:531-538.
-
(1992)
Hum Biol
, vol.64
, pp. 531-538
-
-
Lorey, F.W.1
Cunningham, G.C.2
-
4
-
-
0023910764
-
Survey of neonatal screening for primary hypothyroidism in England, Wales, and Northern Ireland 1982-1982-4
-
Grant DB, Smith I: Survey of neonatal screening for primary hypothyroidism in England, Wales, and Northern Ireland 1982-1982-4. Br Med J (Clin Res Ed) 1988;296:1355-1358.
-
(1988)
Br Med J (Clin Res Ed)
, vol.296
, pp. 1355-1358
-
-
Grant, D.B.1
Smith, I.2
-
5
-
-
0041328169
-
An outline of inherited disorders of the thyroid hormone-generating system
-
Knobel M, Medeiros-Neto G: An outline of inherited disorders of the thyroid hormone-generating system. Thyroid 2003;13:771-801.
-
(2003)
Thyroid
, vol.13
, pp. 771-801
-
-
Knobel, M.1
Medeiros-Neto, G.2
-
6
-
-
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;84:2502-2506.
-
(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
-
7
-
-
0023948591
-
Congenital abnormalities and congenital hypothyroidism
-
Lazarus JH, Hugues IA: Congenital abnormalities and congenital hypothyroidism. Lancet 1988;2:52.
-
(1988)
Lancet
, vol.2
, pp. 52
-
-
Lazarus, J.H.1
Hugues, I.A.2
-
8
-
-
0026723020
-
Congenital anomalies concomitant with persistent primary congenital hypothyroidism
-
Siebner R, Merlob P, Kaiserman I, Sack J: Congenital anomalies 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
-
9
-
-
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
-
10
-
-
0030991994
-
Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992
-
Roberts HE, Moore CA, Fernhoff PM, Brown AL, Khoury MJ: Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992. Am J Med Genet 1997;71:29-32.
-
(1997)
Am J Med Genet
, vol.71
, pp. 29-32
-
-
Roberts, H.E.1
Moore, C.A.2
Fernhoff, P.M.3
Brown, A.L.4
Khoury, M.J.5
-
11
-
-
0034999523
-
Nineteen years of national screening for congenital hypothyroidism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors
-
Castanet M, Polak M, Bonaïti-Pellié C, Lyonnet S, Czernichow P, Léger J: Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 2001;86:2009-2014.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 2009-2014
-
-
Castanet, M.1
Polak, M.2
Bonaïti-Pellié, C.3
Lyonnet, S.4
Czernichow, P.5
Léger, J.6
-
12
-
-
35848933827
-
High prevalence of thyroid developmental anomalies in the first-degree relatives of children with thyroid dysgenesis
-
El Kholy M, El Sayed S, Shehata K, Radwan H, Erfan M, El Naggar M: High prevalence of thyroid developmental anomalies in the first-degree relatives of children with thyroid dysgenesis. Horm Res 2005;64(suppl 1):116.
-
(2005)
Horm Res
, vol.64
, Issue.SUPPL. 1
, pp. 116
-
-
El Kholy, M.1
El Sayed, S.2
Shehata, K.3
Radwan, H.4
Erfan, M.5
El Naggar, M.6
-
13
-
-
0036170727
-
-
Léger J, Marinovic D, Garel C, Catherine Bonaïti- Pellié C, Polak M, Czernichow P: Thyroid developmental anomalies in first-degree relatives of children with congenital hypothyroidism J Clin Endocrinol Metab 2002;87:575-580.
-
Léger J, Marinovic D, Garel C, Catherine Bonaïti- Pellié C, Polak M, Czernichow P: Thyroid developmental anomalies in first-degree relatives of children with congenital hypothyroidism J Clin Endocrinol Metab 2002;87:575-580.
-
-
-
-
14
-
-
0025323524
-
Normal volume of thyroid gland in children
-
Ueda D: Normal volume of thyroid gland in children. J Clin Ultrasound 1990;18:455-462.
-
(1990)
J Clin Ultrasound
, vol.18
, pp. 455-462
-
-
Ueda, D.1
-
17
-
-
12244250148
-
PAX8, TITF1, and FOXE1 gene expression patterns during human development: New insights into human thyroid development and thyroid dysgenesis-associated malformations
-
Trueba SS, Augé J, Mattei G, Etchevers H, Martinovic J, Czernichow P, Vekemans M, Polak M, Attié-Bitach T: 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;90:455-462.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 455-462
-
-
Trueba, S.S.1
Augé, J.2
Mattei, G.3
Etchevers, H.4
Martinovic, J.5
Czernichow, P.6
Vekemans, M.7
Polak, M.8
Attié-Bitach, T.9
-
18
-
-
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, Ferrara AM, Santarpia L, Salvatore D, Chiovato L, Perri A, Moschini L, Fazzini C, Olivieri A, Costa P, Stoppioni V, Baserga M, De Felice M, Sorcini M, Fenzi G, Di Lauro R, Tartaglia M, Macchia PE: Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab 2006;91:1428-1433.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1428-1433
-
-
Dentice, M.1
Cordeddu, V.2
Rosica, A.3
Ferrara, A.M.4
Santarpia, L.5
Salvatore, D.6
Chiovato, L.7
Perri, A.8
Moschini, L.9
Fazzini, C.10
Olivieri, A.11
Costa, P.12
Stoppioni, V.13
Baserga, M.14
De Felice, M.15
Sorcini, M.16
Fenzi, G.17
Di Lauro, R.18
Tartaglia, M.19
Macchia, P.E.20
more..
-
20
-
-
0031947854
-
Increased incidence of congenital malformations in children with transient thyroid-stimulating hormone elevation on neonatal screening
-
Oakley GA, Muir T, Ray M, Girdwood RW, Kennedy R, Donaldson MD: Increased incidence of congenital malformations in children with transient thyroid-stimulating hormone elevation on neonatal screening. J Pediatr 1998;132:726-730.
-
(1998)
J Pediatr
, vol.132
, pp. 726-730
-
-
Oakley, G.A.1
Muir, T.2
Ray, M.3
Girdwood, R.W.4
Kennedy, R.5
Donaldson, M.D.6
-
21
-
-
14844309419
-
High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism
-
Kreisner E, Neto EC, Gross JL: High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism. Thyroid 2005;15:165-169.
-
(2005)
Thyroid
, vol.15
, pp. 165-169
-
-
Kreisner, E.1
Neto, E.C.2
Gross, J.L.3
-
23
-
-
35848956242
-
Extrathyroidal congenital abnormalities in children with congenital hypothyroidism
-
Madrid, September 25-28
-
Milenkovic T, Zdravkovic D, Rajic V, Banicevic M: Extrathyroidal congenital abnormalities in children with congenital hypothyroidism. 41st Annual Meeting of the European Society for Paediatric Endocrinology, Madrid, September 25-28, 2002, P2-P424.
-
(2002)
41st Annual Meeting of the European Society for Paediatric Endocrinology
-
-
Milenkovic, T.1
Zdravkovic, D.2
Rajic, V.3
Banicevic, M.4
-
24
-
-
35848948755
-
Congenital upper limb anomalies - the principle of management
-
Chan KM: Congenital upper limb anomalies - the principle of management. J Hong Kong Physiother Assoc 1984;6:1-4.
-
(1984)
J Hong Kong Physiother Assoc
, vol.6
, pp. 1-4
-
-
Chan, K.M.1
-
25
-
-
0028723687
-
The association between hypothyroidism and other congenital defects. The experience of the National Registry in 1987-1992
-
Balestrazzi P, Sorcini M, Grandolfo ME, Lorenzetti ME, Giovannelli G: The association between hypothyroidism and other congenital defects. The experience of the National Registry in 1987-1992. Ann Ist Super Sanita 1994;30:289-293.
-
(1994)
Ann Ist Super Sanita
, vol.30
, pp. 289-293
-
-
Balestrazzi, P.1
Sorcini, M.2
Grandolfo, M.E.3
Lorenzetti, M.E.4
Giovannelli, G.5
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