-
1
-
-
0019798972
-
Thyroid development and disorders of thyroid function in the newborn
-
Fisher DA, Klein, A 1981 Thyroid development and disorders of thyroid function in the newborn. N Engl J Med 304:702-712
-
(1981)
N Engl J Med
, vol.304
, pp. 702-712
-
-
Fisher, D.A.1
Klein, A.2
-
2
-
-
5444271023
-
Thyroid development and its disorders: Genetics and molecular mechanisms
-
De Felice M, Di Lauro R 2004 Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 25:722-746
-
(2004)
Endocr Rev
, vol.25
, pp. 722-746
-
-
De Felice, M.1
Di Lauro, R.2
-
3
-
-
18844400822
-
Genetics of congenital hypothyroidism
-
Park SM, Chatterjee VK 2005 Genetics of congenital hypothyroidism. J Med Genet 42:379-389
-
(2005)
J Med Genet
, vol.42
, pp. 379-389
-
-
Park, S.M.1
Chatterjee, V.K.2
-
4
-
-
0036739991
-
Discordance of monozygotic twins for thyroid dysgenesis: Implications for screening and for molecular pathophysiology
-
Perry R, Heinrichs C, Bourdoux P, Khoury K, Szots F, Dussault JH, Vassart G, Van Vliet G 2002 Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology. J Clin Endocrinol Metab 87:4072-4077
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4072-4077
-
-
Perry, R.1
Heinrichs, C.2
Bourdoux, P.3
Khoury, K.4
Szots, F.5
Dussault, J.H.6
Vassart, G.7
Van Vliet, G.8
-
5
-
-
0028888593
-
Brief report: Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene
-
Sunthornthepvarakui T, Gottschalk ME, Hayashi Y, Refetoff S 1995 Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med 332:155-160
-
(1995)
N Engl J Med
, vol.332
, pp. 155-160
-
-
Sunthornthepvarakui, T.1
Gottschalk, M.E.2
Hayashi, Y.3
Refetoff, S.4
-
6
-
-
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
-
7
-
-
0036181474
-
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
-
Krude H, Schutz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tonnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Gruters 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
Schutz, B.2
Biebermann, H.3
Von Moers, A.4
Schnabel, D.5
Neitzel, H.6
Tonnies, 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
Gruters, A.15
-
8
-
-
0036175892
-
Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice
-
Pohlenz J, Dumitrescu A, Zundel D, Martine U, Schonberger 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
Martine, U.4
Schonberger, W.5
Koo, E.6
Weiss, R.E.7
Cohen, R.N.8
Kimura, S.9
Refetoff, S.10
-
9
-
-
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
-
10
-
-
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
-
11
-
-
17344374131
-
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
-
Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Gruters A, Busslinger M, Di Lauro R 1998 PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 19:83-86
-
(1998)
Nat Genet
, vol.19
, pp. 83-86
-
-
Macchia, P.E.1
Lapi, P.2
Krude, H.3
Pirro, M.T.4
Missero, C.5
Chiovato, L.6
Souabni, A.7
Baserga, M.8
Tassi, V.9
Pinchera, A.10
Fenzi, G.11
Gruters, A.12
Busslinger, M.13
Di Lauro, R.14
-
12
-
-
17744381340
-
Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8
-
Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G 2001 Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. J Clin Endocrinol Metab 86:234-238
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 234-238
-
-
Vilain, C.1
Rydlewski, C.2
Duprez, L.3
Heinrichs, C.4
Abramowicz, M.5
Malvaux, P.6
Renneboog, B.7
Parma, J.8
Costagliola, S.9
Vassart, G.10
-
13
-
-
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, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P 2001 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 86:3962-3967
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3962-3967
-
-
Congdon, T.1
Nguyen, L.Q.2
Nogueira, C.R.3
Habiby, R.L.4
Medeiros-Neto, G.5
Kopp, P.6
-
14
-
-
0034776299
-
Thyroid dysgenesis caused by PAX8 mutation: The hypermutability with CpG dinucleotides at codon 31
-
Komatsu M, Takahashi T, Takahashi I, Nakamura M, Takahashi I, Takada G 2001 Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31. J Pediatr 139:597-599
-
(2001)
J Pediatr
, vol.139
, pp. 597-599
-
-
Komatsu, M.1
Takahashi, T.2
Takahashi, I.3
Nakamura, M.4
Takahashi, I.5
Takada, G.6
-
15
-
-
4544229648
-
Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid
-
Meeus L, Gilbert B, Rydlewski C, Parma J, Roussie AL, Abramowicz M, Vilain C, Christophe D, Costagliola S, Vassart G 2004 Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid. J Clin Endocrinol Metab 89:4285-4291
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 4285-4291
-
-
Meeus, L.1
Gilbert, B.2
Rydlewski, C.3
Parma, J.4
Roussie, A.L.5
Abramowicz, M.6
Vilain, C.7
Christophe, D.8
Costagliola, S.9
Vassart, G.10
-
16
-
-
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, Crisp MS, John R, LJ, Ludgate M, Chatterjee V 1998 Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 19:399-401
-
(1998)
Nat Genet
, vol.19
, pp. 399-401
-
-
Clifton-Bligh, R.J.1
Wentworth, J.M.2
Heinz, P.3
Crisp, M.S.4
John, R.5
Ludgate, M.6
Chatterjee, V.7
-
17
-
-
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, Bost M, Leger J, Lyonnet S, Pelet A, Czernichow P, Chatterjee K, Polak M 2002 A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet 11:2051-2059
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2051-2059
-
-
Castanet, M.1
Park, S.M.2
Smith, A.3
Bost, M.4
Leger, J.5
Lyonnet, S.6
Pelet, A.7
Czernichow, P.8
Chatterjee, K.9
Polak, M.10
-
18
-
-
13544273520
-
Linkage and mutational analysis of familial thyroid dysgenesis suggest genetic heterogeneity
-
Castanet M, Sura Trueba S, Chauty A, Carré A, Heath, S, Léger J, Lyonnet S, Czernichow P, Polak M 2005 Linkage and mutational analysis of familial thyroid dysgenesis suggest genetic heterogeneity. Eur J Hum Genet 13:232-239
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 232-239
-
-
Castanet, M.1
Sura Trueba, S.2
Chauty, A.3
Carré, A.4
Heath, S.5
Léger, J.6
Lyonnet, S.7
Czernichow, P.8
Polak, M.9
-
19
-
-
0034999523
-
Nineteen years of national screening for congenital hypothyroidism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors
-
Castanet M, Polak M, Bonaiti-Pellie C, Lyonnet S, Czernichow P, Leger J 2001 Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 86:2009-2014
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 2009-2014
-
-
Castanet, M.1
Polak, M.2
Bonaiti-Pellie, C.3
Lyonnet, S.4
Czernichow, P.5
Leger, J.6
-
20
-
-
0034632713
-
Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism
-
Castanet M, Lyonnet S, Bonaiti-Pellie C, Polak M, Czernichow P, Leger J 2000 Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism. N Engl J Med 343:441-442
-
(2000)
N Engl J Med
, vol.343
, pp. 441-442
-
-
Castanet, M.1
Lyonnet, S.2
Bonaiti-Pellie, C.3
Polak, M.4
Czernichow, P.5
Leger, J.6
-
21
-
-
0036170727
-
Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism
-
Leger J, Marinovic D, Garel C, Bonaiti-Pellie C, Polak M, Czernichow P 2002 Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab 87:575-580
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 575-580
-
-
Leger, J.1
Marinovic, D.2
Garel, C.3
Bonaiti-Pellie, C.4
Polak, M.5
Czernichow, P.6
-
22
-
-
0032699514
-
Thyroid hemiagenesis in an endemic goiter area diagnosed by ultrasonography: Report of sixteen patients
-
Mikosch P, Gallowitsch HJ, Kresnik E, Molnar M, Gomez I, Lind P 1999 Thyroid hemiagenesis in an endemic goiter area diagnosed by ultrasonography: report of sixteen patients. Thyroid 9:1075-1084
-
(1999)
Thyroid
, vol.9
, pp. 1075-1084
-
-
Mikosch, P.1
Gallowitsch, H.J.2
Kresnik, E.3
Molnar, M.4
Gomez, I.5
Lind, P.6
-
23
-
-
0030057596
-
The T/ebp null mouse: Thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary
-
Kimura S, Hara Y, Pineau T, Fernandez-Salguero P, Fox C, Ward J, Gonzalez F 1996 The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. Genes Dev 10:60-69
-
(1996)
Genes Dev
, vol.10
, pp. 60-69
-
-
Kimura, S.1
Hara, Y.2
Pineau, T.3
Fernandez-Salguero, P.4
Fox, C.5
Ward, J.6
Gonzalez, F.7
-
24
-
-
0031777309
-
Follicular cells of the thyroid gland require Pax8 gene function
-
Mansouri A, Chowdhury K, Gruss P 1998 Follicular cells of the thyroid gland require Pax8 gene function. Nat Genet 19:87-90
-
(1998)
Nat Genet
, vol.19
, pp. 87-90
-
-
Mansouri, A.1
Chowdhury, K.2
Gruss, P.3
-
25
-
-
9944248248
-
An integrated regulatory network controlling survival and migration in thyroid organogenesis
-
Parlato R, Rosica A, Rodriguez-Mallon A, Affuso A, Postiglione MP, Arra C, Mansouri A, Kimura S, Di Lauro R, De Felice M 2004 An integrated regulatory network controlling survival and migration in thyroid organogenesis. Dev Biol 276:464-475
-
(2004)
Dev Biol
, vol.276
, pp. 464-475
-
-
Parlato, R.1
Rosica, A.2
Rodriguez-Mallon, A.3
Affuso, A.4
Postiglione, M.P.5
Arra, C.6
Mansouri, A.7
Kimura, S.8
Di Lauro, R.9
De Felice, M.10
-
26
-
-
0037180569
-
Role of the thyroid-stimulating hormone receptor signaling in development and differentiation of the thyroid gland
-
USA
-
Postiglione MP, Parlato R, Rodriguez-Mallon A, Rosica A, Mithbaokar P, Maresca M, Marians RC, Davies TF, Zannini MS, De Felice M, Di Lauro R 2002 Role of the thyroid-stimulating hormone receptor signaling in development and differentiation of the thyroid gland. Proc Natl Acad Sci USA 99:15462-15467
-
(2002)
Proc Natl Acad Sci
, vol.99
, pp. 15462-15467
-
-
Postiglione, M.P.1
Parlato, R.2
Rodriguez-Mallon, A.3
Rosica, A.4
Mithbaokar, P.5
Maresca, M.6
Marians, R.C.7
Davies, T.F.8
Zannini, M.S.9
De Felice, M.10
Di Lauro, R.11
-
27
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
-
Chomczynski P, Sacchi N 1987 Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
-
(1987)
Anal Biochem
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
28
-
-
0001677717
-
Controlling the false discovery rate: A practical and powerful approach to multiple testing
-
Benjamini Y, Hochberg Y 1995 Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc B 57:289-300
-
(1995)
J R Stat Soc B
, vol.57
, pp. 289-300
-
-
Benjamini, Y.1
Hochberg, Y.2
-
29
-
-
0035202331
-
A unique combination of transcription factors controls differentiation of thyroid cells
-
Damante G, Tell G, Di Lauro R 2001 A unique combination of transcription factors controls differentiation of thyroid cells. Prog Nucleic Acid Res Mol Biol 66:307-356
-
(2001)
Prog Nucleic Acid Res Mol Biol
, vol.66
, pp. 307-356
-
-
Damante, G.1
Tell, G.2
Di Lauro, R.3
-
30
-
-
0033940280
-
A complete enumeration and classification of two-locus disease models
-
Li W, Reich J 2000 A complete enumeration and classification of two-locus disease models. Hum Hered 50:334-349
-
(2000)
Hum Hered
, vol.50
, pp. 334-349
-
-
Li, W.1
Reich, J.2
-
31
-
-
0028786558
-
Redundant domains contribute to the transcriptional activity of Thyroid Transcription Factor 1 (TTF-1)
-
De Felice M, Damante G, Zannini MS, Francis-Lang H, Di Lauro R 1995 Redundant domains contribute to the transcriptional activity of Thyroid Transcription Factor 1 (TTF-1). J Biol Chem 270:26649-26656
-
(1995)
J Biol Chem
, vol.270
, pp. 26649-26656
-
-
De Felice, M.1
Damante, G.2
Zannini, M.S.3
Francis-Lang, H.4
Di Lauro, R.5
-
32
-
-
0026738482
-
Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters
-
Zannini MS, Francis-Lang H, Plachov D, Di Lauro R 1992 Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters. Mol Cell Biol 12:4230-4241
-
(1992)
Mol Cell Biol
, vol.12
, pp. 4230-4241
-
-
Zannini, M.S.1
Francis-Lang, H.2
Plachov, D.3
Di Lauro, R.4
-
33
-
-
0033049567
-
The paireddomain transcription factor Pax8 binds to the upstream enhancer of the rat sodium/iodide symporter gene and participates in both thyroid-specific and cyclic-AMP-dependent transcription
-
Ohno M, Zannini MS, Levy O, Carrasco N, Di Lauro R 1999 The paireddomain transcription factor Pax8 binds to the upstream enhancer of the rat sodium/iodide symporter gene and participates in both thyroid-specific and cyclic-AMP-dependent transcription. Mol Cell Biol 19:2051-2060
-
(1999)
Mol Cell Biol
, vol.19
, pp. 2051-2060
-
-
Ohno, M.1
Zannini, M.S.2
Levy, O.3
Carrasco, N.4
Di Lauro, R.5
-
34
-
-
0037474242
-
The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription
-
Di Palma T, Nitsch R, Mascia A, Nitsch L, Di Lauro R, Zannini M 2003 The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription. J Biol Chem 278:3395-3402
-
(2003)
J Biol Chem
, vol.278
, pp. 3395-3402
-
-
Di Palma, T.1
Nitsch, R.2
Mascia, A.3
Nitsch, L.4
Di Lauro, R.5
Zannini, M.6
-
35
-
-
15944376562
-
Strategies for mapping and cloning quantitative trait genes in rodents
-
Flint J, Valdar W, Shifman S, Mott R 2005 Strategies for mapping and cloning quantitative trait genes in rodents. Nat Rev Genet 6:271-286
-
(2005)
Nat Rev Genet
, vol.6
, pp. 271-286
-
-
Flint, J.1
Valdar, W.2
Shifman, S.3
Mott, R.4
-
36
-
-
18444389956
-
Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism
-
Alberti L, Proverbio MC, Costagliola S, Romoli R, Boldrighini B, Vigone MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L 2002 Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 2002 87:2549-2555
-
(2002)
J Clin Endocrinol Metab 2002
, vol.87
, 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
-
37
-
-
0038699024
-
Thyroid hemiagenesis: Prevalence in normal children and effect on thyroid function
-
Maiorana R, Carta A, Floriddia G, Leonardi D, Buscema M, Sava L, Calaciura F, Vigneri R 2003 Thyroid hemiagenesis: prevalence in normal children and effect on thyroid function. J Clin Endocrinol Metab 88:1534-1536
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 1534-1536
-
-
Maiorana, R.1
Carta, A.2
Floriddia, G.3
Leonardi, D.4
Buscema, M.5
Sava, L.6
Calaciura, F.7
Vigneri, R.8
-
38
-
-
0013976147
-
Thyroid dysgenesis in two pairs of monozygotic twins and in a mother and child
-
Greig WR, Henderson AS, Boyle JA, McGirr EM, Hutchison JH 1966 Thyroid dysgenesis in two pairs of monozygotic twins and in a mother and child. J Clin Endocrinol Metab 26:1309-1316
-
(1966)
J Clin Endocrinol Metab
, vol.26
, pp. 1309-1316
-
-
Greig, W.R.1
Henderson, A.S.2
Boyle, J.A.3
McGirr, E.M.4
Hutchison, J.H.5
-
40
-
-
0018854027
-
Familial thyroid ectopy and hemiagenesis
-
Rosenberg T, Gilboa Y 1980 Familial thyroid ectopy and hemiagenesis. Arch Dis Child 55:639-641
-
(1980)
Arch Dis Child
, vol.55
, pp. 639-641
-
-
Rosenberg, T.1
Gilboa, Y.2
-
41
-
-
0021962069
-
Thyroid dysgenesis in monozygotic twins: Variants identified by scintigraphy
-
McLean R, Howard N, Murray IP 1985 Thyroid dysgenesis in monozygotic twins: variants identified by scintigraphy. Eur J Nucl Med 10:346-348
-
(1985)
Eur J Nucl Med
, vol.10
, pp. 346-348
-
-
McLean, R.1
Howard, N.2
Murray, I.P.3
-
42
-
-
19444374566
-
Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases
-
Castanet M, Leenhardt L, Leger J, Simon-Carre A, Lyonnet S, Pelet A, Czernichow P, Polak M 2005 Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases. Pediatr Res 57:908-913
-
(2005)
Pediatr Res
, vol.57
, pp. 908-913
-
-
Castanet, M.1
Leenhardt, L.2
Leger, J.3
Simon-Carre, A.4
Lyonnet, S.5
Pelet, A.6
Czernichow, P.7
Polak, M.8
-
43
-
-
2442614881
-
New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndrome
-
Bini R, Pela I 2004 New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndrome. Am J Med Genet A 127:183-185
-
(2004)
Am J Med Genet A
, vol.127
, pp. 183-185
-
-
Bini, R.1
Pela, I.2
-
44
-
-
0142043964
-
Thyroid hypoplasia of the left lobe in two girls affected by Williams syndrome
-
Stagi S, Bindi G, Neri AS, Giovannucci-Uzielli ML, Lapi E, Galluzzi F, Salti R 2003 Thyroid hypoplasia of the left lobe in two girls affected by Williams syndrome. Clin Dysmorphol 12:267-268
-
(2003)
Clin Dysmorphol
, vol.12
, pp. 267-268
-
-
Stagi, S.1
Bindi, G.2
Neri, A.S.3
Giovannucci-Uzielli, M.L.4
Lapi, E.5
Galluzzi, F.6
Salti, R.7
-
45
-
-
0033609916
-
Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome
-
Cammareri V, Vignati G, Nocera G, Beck-Peccoz P, Persani L 1999 Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome. Am J Med Genet 85:491-494
-
(1999)
Am J Med Genet
, vol.85
, pp. 491-494
-
-
Cammareri, V.1
Vignati, G.2
Nocera, G.3
Beck-Peccoz, P.4
Persani, L.5
-
46
-
-
0029030722
-
The role of Hoxa-3 in mouse thymus and thyroid development
-
Manley NR, Capecchi M 1995 The role of Hoxa-3 in mouse thymus and thyroid development. Development 121:1989-2003
-
(1995)
Development
, vol.121
, pp. 1989-2003
-
-
Manley, N.R.1
Capecchi, M.2
-
47
-
-
0032030895
-
Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands
-
Manley NR, Capecchi M 1998 Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands. Dev Biol 195:1-15
-
(1998)
Dev Biol
, vol.195
, pp. 1-15
-
-
Manley, N.R.1
Capecchi, M.2
-
48
-
-
1942533388
-
Genetic deletion of sonic hedgehog causes hemiagenesis and ectopic development of the thyroid in mouse
-
Fagman H, Grande M, Gritli-Linde A, Nilsson M 2004 Genetic deletion of sonic hedgehog causes hemiagenesis and ectopic development of the thyroid in mouse. Am J Pathol 164:1865-1872
-
(2004)
Am J Pathol
, vol.164
, pp. 1865-1872
-
-
Fagman, H.1
Grande, M.2
Gritli-Linde, A.3
Nilsson, M.4
-
49
-
-
0038678572
-
Perturbed thyroid morphology and transient hypothyroidism symptoms in Hoxa5 mutant mice
-
Meunier D, Aubin J, Jeannotte L 2003 Perturbed thyroid morphology and transient hypothyroidism symptoms in Hoxa5 mutant mice. Dev Dyn 227:367-378
-
(2003)
Dev Dyn
, vol.227
, pp. 367-378
-
-
Meunier, D.1
Aubin, J.2
Jeannotte, L.3
-
50
-
-
18444381152
-
Subclinical hypothyroidism in early childhood: A frequent outcome of transient neonatal hyperthyrotropinemia
-
Calaciura F, Motta RM, Miscio G, Fichera G, Leonardi D, Carta A, Trischitta V, Tassi V, Sava L, Vigneri R 2002 Subclinical hypothyroidism in early childhood: a frequent outcome of transient neonatal hyperthyrotropinemia. J Clin Endocrinol Metab 87:3209-3214
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 3209-3214
-
-
Calaciura, F.1
Motta, R.M.2
Miscio, G.3
Fichera, G.4
Leonardi, D.5
Carta, A.6
Trischitta, V.7
Tassi, V.8
Sava, L.9
Vigneri, R.10
-
51
-
-
0141814888
-
Thyroid hemiagenesis with multinodular goiter: A case report and review of the literature
-
Karabay N, Comlekci A, Canda MS, Bayraktar F, Degirmenci B 2003 Thyroid hemiagenesis with multinodular goiter: a case report and review of the literature. Endocr J 50:409-413
-
(2003)
Endocr J
, vol.50
, pp. 409-413
-
-
Karabay, N.1
Comlekci, A.2
Canda, M.S.3
Bayraktar, F.4
Degirmenci, B.5
|