-
1
-
-
84882781704
-
Thyroid disorders; in Rimoin DL, Pyeritz RE, Korf B (eds): Emery and Rimoin's Principles and Practice of Medical Genetics, ed 6
-
Polak M, Szinnai G: Thyroid disorders; in Rimoin DL, Pyeritz RE, Korf B (eds): Emery and Rimoin's Principles and Practice of Medical Genetics, ed 6. Philadelphia, Academic Press, 2013, chapt 84, pp 1-24.
-
(2013)
Philadelphia, Academic Press, chapt
, vol.84
, pp. 1-24
-
-
Polak, M.1
Szinnai, G.2
-
3
-
-
84896088313
-
Hypothyroidism in infants and children: congenital hypothyroidism; in Braver-man LE, Cooper D (eds): Werner and Ingbar's the Thyroid: A Fundamental and Clinical Text, ed 10
-
Van Vliet G, Deladoëy J: Hypothyroidism in infants and children: congenital hypothyroidism; in Braver- man LE, Cooper D (eds): Werner and Ingbar's the Thyroid: A Fundamental and Clinical Text, ed 10. Philadelphia, Lippincott, Williams & Wilkins, 2012, pp 790-802
-
(2012)
Philadelphia, Lippincott, Williams & Wilkins, pp
, pp. 790-802
-
-
Van Vliet, G.1
Deladoëy, J.2
-
4
-
-
21644489783
-
Molecular mechanisms of thyroid dysgenesis
-
Polak M, Sura-Trueba S, Chauty A, Szinnai G, Carré A, Castanet M: Molecular mechanisms of thyroid dysgenesis. Horm Res 2004;62(suppl 3):14-21.
-
(2004)
Horm Res ;
, vol.62
, pp. 14-21
-
-
Polak, M.1
Sura-Trueba, S.2
Chauty, A.3
Szinnai, G.4
Carré, A.5
Castanet, M.6
-
5
-
-
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;25:722-746.
-
(2004)
Endocr Rev ;
, vol.25
, pp. 722-746
-
-
De Felice, M.1
Di Lauro, R.2
-
6
-
-
84888805501
-
Mechanisms of thyroid de-velopment and dysgenesis: an analysis based on de-velopmental stages and concurrent embryonic anat-omy
-
Nilsson M, Fagman H: Mechanisms of thyroid de- velopment and dysgenesis: an analysis based on de- velopmental stages and concurrent embryonic anat- omy. Curr Top Dev Biol 2013;106:123-170.
-
(2013)
Curr Top Dev Biol ;
, vol.106
, pp. 123-170
-
-
Nilsson, M.1
Fagman, H.2
-
7
-
-
84896073133
-
Genetics of normal and abnormal thyroid development in humans
-
Szinnai G: Genetics of normal and abnormal thyroid development in humans. Best Pract Res Clin Endo- crinol Metab 2014;28:133-150.
-
(2014)
Best Pract Res Clin Endo-crinol Metab ;
, vol.28
, pp. 133-150
-
-
Szinnai, G.1
-
8
-
-
0020647088
-
Plasma thyroglobulin measurements help deter-mine the type of thyroid defect in congenital hypo-thyroidism
-
Czernichow P, Schlumberger M, Pomarede R, Fragu P: Plasma thyroglobulin measurements help deter- mine the type of thyroid defect in congenital hypo- thyroidism. J Clin Endocrinol Metab 1983;56:242- 245
-
(1983)
J Clin Endocrinol Metab ;
, vol.56
, pp. 242- 245
-
-
Czernichow, P.1
Schlumberger, M.2
Pomarede, R.3
Fragu, P.4
-
9
-
-
0031755047
-
Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin re-ceptor gene: are athyreosis and ectopic thyroid dis-tinct entities?
-
Gagné N, Parma J, Deal C, Vassart G, Van Vliet G: Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin re- ceptor gene: are athyreosis and ectopic thyroid dis- tinct entities? J Clin Endocrinol Metab 1998;83: 1771-1775.
-
(1998)
J Clin Endocrinol Metab ;
, vol.83
, pp. 1771-1775
-
-
Gagné, N.1
Parma, J.2
Deal, C.3
Vassart, G.4
Van Vliet, G.5
-
10
-
-
0036170727
-
Thyroid developmental anom-alies in first degree relatives of children with con-genital hypothyroidism
-
Léger J, Marinovic D, Garel C, Bonaïti-Pellié C, Po- lak M, Czernichow P: Thyroid developmental anom- alies in first degree relatives of children with con- genital hypothyroidism. J Clin Endocrinol Metab 2002;87:575-580.
-
(2002)
J Clin Endocrinol Metab ;
, vol.87
, pp. 575-580
-
-
Léger, J.1
Marinovic, D.2
Garel, C.3
Bonaïti-Pellié, C.4
Po-lak, M.5
Czernichow, P.6
-
11
-
-
77957771848
-
Ectopic thyroid gland caus-ing dysphonia: imaging and molecular studies
-
Stoppa-Vaucher S, Lapointe A, Turpin S, Rydlewski C, Vassart G, Deladoëy J: Ectopic thyroid gland caus- ing dysphonia: imaging and molecular studies. J Clin Endocrinol Metab 2010;95:4509-4510.
-
(2010)
J Clin Endocrinol Metab ;
, vol.95
, pp. 4509-4510
-
-
Stoppa-Vaucher, S.1
Lapointe, A.2
Turpin, S.3
Rydlewski, C.4
Vassart, G.5
Deladoëy, J.6
-
12
-
-
84861960179
-
A high prevalence of dual thyroid ectopy in congenital hypothyroidism: evidence for insufficient signaling gradients during embryonic thyroid migration or for the polyclonal nature of the thyroid gland?
-
Wildi-Runge S, Stoppa-Vaucher S, Lambert R, Tur- pin S, Van Vliet G, Deladoëy J: A high prevalence of dual thyroid ectopy in congenital hypothyroidism: evidence for insufficient signaling gradients during embryonic thyroid migration or for the polyclonal nature of the thyroid gland? J Clin Endocrinol Metab 2012;97:E978-E981
-
(2012)
J Clin Endocrinol Metab ;
, vol.97
, pp. E978-E981
-
-
Wildi-Runge, S.1
Stoppa-Vaucher, S.2
Lambert, R.3
Tur-pin, S.4
Van Vliet, G.5
Deladoëy, J.6
-
13
-
-
12244250148
-
PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dys-genesis-associated malformations
-
Trueba SS, Augé J, Mattei G, Etchevers H, Marti- novic 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 dys- genesis-associated malformations. J Clin Endocrinol Metab 2005;90:445-462.
-
(2005)
J Clin Endocrinol Metab ;
, vol.90
, pp. 445-462
-
-
Trueba, S.S.1
Augé, J.2
Mattei, G.3
Etchevers, H.4
Marti-novic, J.5
Czernichow, P.6
Vekemans, M.7
Polak, M.8
Attié-Bitach, T.9
-
14
-
-
33846093170
-
Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus
-
Szinnai G, Lacroix L, Carré A, Guimiot F, Talbot M, Martinovic J, Delezoide AL, Vekemans M, Michiels S, Caillou B, Schlumberger M, Bidart JM, Polak M: Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus. J Clin Endocrinol Metab 2007;92: 70-76.
-
(2007)
J Clin Endocrinol Metab ;
, vol.92
, pp. 70-76
-
-
Szinnai, G.1
Lacroix, L.2
Carré, A.3
Guimiot, F.4
Talbot, M.5
Martinovic, J.6
Delezoide, A.L.7
Vekemans, M.8
Michiels, S.9
Caillou, B.10
Schlumberger, M.11
Bidart, J.M.12
Polak, M.13
-
15
-
-
0033306083
-
A search for the possible molecular mecha-nisms of thyroid dysgenesis: sex ratios and associat-ed malformations
-
Devos H, Rodd C, Gagne N, Laframboise R, Van Vliet G: A search for the possible molecular mecha- nisms of thyroid dysgenesis: sex ratios and associat- ed 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
-
16
-
-
0036739991
-
Discordance of monozygotic twins for thyroid dysgenesis: impli-cations for screening and for molecular pathophysi-ology
-
Perry R, Heinrichs C, Bourdoux P, Khoury K, Szöts F, Dussault JH, Vassart G, van Vliet G: Discordance of monozygotic twins for thyroid dysgenesis: impli- cations for screening and for molecular pathophysi- ology. J Clin Endocrinol Metab 2002;87:4027-4077.
-
(2002)
J Clin Endocrinol Metab ;
, vol.87
, pp. 4027-4077
-
-
Perry, R.1
Heinrichs, C.2
Bourdoux, P.3
Khoury, K.4
Szöts, F.5
Dussault, J.H.6
Vassart, G.7
van Vliet, G.8
-
17
-
-
0034999523
-
Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involve-ment 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 involve- ment 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
-
19
-
-
0025084237
-
Pax8, a murine paired box gene expressed in the developing excretory system and the thyroid gland
-
Plachov D, Chouwhury K, Walther C, Simon D, Guenet JL, Gruss P: Pax8, a murine paired box gene expressed in the developing excretory system and the thyroid gland. Development 1990;110:643-651.
-
(1990)
Development ;
, vol.110
, pp. 643-651
-
-
Plachov, D.1
Chouwhury, K.2
Walther, C.3
Simon, D.4
Guenet, J.L.5
Gruss, P.6
-
20
-
-
0031777309
-
Gruss P: Follicular cells of the thyroid gland require Pax8 gene function
-
Mansouri A, Chouwhury K, Gruss P: Follicular cells of the thyroid gland require Pax8 gene function. Nat Genet 1998;19:87-90.
-
(1998)
Nat Genet
, vol.19
, pp. 87-90
-
-
Mansouri, A.1
Chouwhury, K.2
-
22
-
-
66149122629
-
Five new TTF1/ NKX2-1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case
-
Carre A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L'Hermite I, Barat P, Goizet C, Lacombe D, Moutard ML, Raybaud C, Raynaud-Ravni C, Ro- mana S, Ythier H, Léger J, Polak M: Five new TTF1/ NKX2-1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet 2009;18:2266-2276.
-
(2009)
Hum Mol Genet ;
, vol.18
, pp. 2266-2276
-
-
Carre, A.1
Szinnai, G.2
Castanet, M.3
Sura-Trueba, S.4
Tron, E.5
Broutin-L'Hermite, I.6
Barat, P.7
Goizet, C.8
Lacombe, D.9
Moutard, M.L.10
Raybaud, C.11
Raynaud-Ravni, C.12
Ro-mana, S.13
Ythier, H.14
Léger, J.15
Polak, M.16
-
23
-
-
84868374724
-
Generation of functional thyroid from embryonic stem cells
-
Antonica F, Figini Kasprzyk D, Opitz R, Iacovino M, Liao XH, Dumitrescu AM, Refetoff S, Peremans K, Manto M, Kyba M, Costagliola S: Generation of functional thyroid from embryonic stem cells. Na- ture 2012;491:66-71.
-
(2012)
Na-ture ;
, vol.491
, pp. 66-71
-
-
Antonica, F.1
Figini Kasprzyk, D.2
Opitz, R.3
Iacovino, M.4
Liao, X.H.5
Dumitrescu, A.M.6
Refetoff, S.7
Peremans, K.8
Manto, M.9
Kyba, M.10
Costagliola, S.11
-
24
-
-
17344374131
-
PAX8 mutations associated with congenital hypo-thyroidism 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: PAX8 mutations associated with congenital hypo- thyroidism caused by thyroid dysgenesis. Nat Genet 1998;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
-
25
-
-
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, Costa- gliola S, Vassart G: 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 2004;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
Costa-gliola, S.9
Vassart, G.10
-
26
-
-
84958632845
-
PAX8 mutations in congenital hypothyroidism: new evidence for phe-notypic variability from normal to ectopic thyroid gland
-
Ramos HE, Carre A, Szinnai G, Tron E, Cerqueira TLO, Leger J, Cabrol S, Puel O, de Roux N, Polak M, Chevrier L, Castanet M: PAX8 mutations in congenital hypothyroidism: new evidence for phe- notypic variability from normal to ectopic thyroid gland. https://endo.confex.com/endo/2013endo/ webprogram/Paper5804.html.
-
(2013)
https://endo.confex.com/endo/ webprogram/Paper
, pp. 5804
-
-
Ramos, H.E.1
Carre, A.2
Szinnai, G.3
Tron, E.4
Cerqueira, T.L.O.5
Leger, J.6
Cabrol, S.7
Puel, O.8
de Roux, N.9
Polak, M.10
Chevrier, L.11
Castanet, M.12
-
27
-
-
0026340586
-
The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain
-
Lazzaro D, Price M, De Felice M, Di Lauro R: The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain. Development 1991;113: 1093-1104.
-
(1991)
Development ;
, vol.113
, pp. 1093-1104
-
-
Lazzaro, D.1
Price, M.2
De Felice, M.3
Di Lauro, R.4
-
28
-
-
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 CH, Ward JM, Gonzalez FJ: 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 1996;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.H.5
Ward, J.M.6
Gonzalez, F.J.7
-
29
-
-
33746607692
-
Thyroid-specific enhancer-bind-ing protein/NKX2.1 is required for the maintenance of ordered architecture and function of the differen-tiated thyroid
-
Kusakabe T, Kawaguchi A, Hoshi N, Kawaguchi R, Hoshi S, Kimura S: Thyroid-specific enhancer-bind- ing protein/NKX2.1 is required for the maintenance of ordered architecture and function of the differen- tiated thyroid. Mol Endocrinol 2006;20:1796-1809.
-
(2006)
Mol Endocrinol ;
, vol.20
, pp. 1796-1809
-
-
Kusakabe, T.1
Kawaguchi, A.2
Hoshi, N.3
Kawaguchi, R.4
Hoshi, S.5
Kimura, S.6
-
30
-
-
75149175193
-
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause in-terstitial lung disease in 'brain-lung-thyroid syn-drome'
-
Guillot L, Carre A, Szinnai G, Castanet M, Tron E, Jaubert F, Broutin I, Counil F, Feldmann D, Clement A, Polak M, Epaud R: NKX2-1 mutations leading to surfactant protein promoter dysregulation cause in- terstitial lung disease in 'brain-lung-thyroid syn- drome'. Hum Mutat 2010;31:E1146.
-
(2010)
Hum Mutat ;
, vol.31
, pp. E1146
-
-
Guillot, L.1
Carre, A.2
Szinnai, G.3
Castanet, M.4
Tron, E.5
Jaubert, F.6
Broutin, I.7
Counil, F.8
Feldmann, D.9
Clement, A.10
Polak, M.11
Epaud, R.12
-
31
-
-
0032580483
-
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respi-ratory failure
-
Devriendt K, Vanhole C, Matthijs G, de Zegher F: Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respi- ratory failure. N Engl J Med 1998;338:1317-1318.
-
(1998)
N Engl J Med ;
, vol.338
, pp. 1317-1318
-
-
Devriendt, K.1
Vanhole, C.2
Matthijs, G.3
de Zegher, F.4
-
32
-
-
0036181474
-
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
-
Krude H, Schutz B, Bibermann H, von Moers A, Sch- nabel D, Neitzel H, Tonnies H, Weise D, Lafferty A, Schwarz S, De Felice M, von Deimling A, van Lande- ghem F, Di Lauro R, Grueters A: Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 2002;109:475-480.
-
(2002)
J Clin Invest ;
, vol.109
, pp. 475-480
-
-
Krude, H.1
Schutz, B.2
Bibermann, H.3
von Moers, A.4
Sch-nabel, D.5
Neitzel, H.6
Tonnies, H.7
Weise, D.8
Lafferty, A.9
Schwarz, S.10
De Felice, M.11
von Deimling, A.12
van Lande-ghem, F.13
Di Lauro, R.14
Grueters, A.15
-
33
-
-
0036175892
-
Partial deficiency of thyroid transcription factor 1 produces predominantly neurological de-fects in humans and mice
-
Pohlenz J, Dimitrescu A, Zundel D, Martine U, Sch- onberger W, Koo E, Weiss RE, Cohen RN, Kimura S, Refetoff S: Partial deficiency of thyroid transcription factor 1 produces predominantly neurological de- fects in humans and mice. J Clin Invest 2002;109: 469-473.
-
(2002)
J Clin Invest ;
, vol.109
, pp. 469-473
-
-
Pohlenz, J.1
Dimitrescu, A.2
Zundel, D.3
Martine, U.4
Sch-onberger, W.5
Koo, E.6
Weiss, R.E.7
Cohen, R.N.8
Kimura, S.9
Refetoff, S.10
-
34
-
-
84866149000
-
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/ NKX2-1 gene
-
Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, Billette de Villemeur T, Vidailhet M, Doummar D: Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/ NKX2-1 gene. J Neurol Neurosurg Psychiatry 2012; 83:956-962
-
(2012)
J Neurol Neurosurg Psychiatry ;
, vol.83
, pp. 956-962
-
-
Gras, D.1
Jonard, L.2
Roze, E.3
Chantot-Bastaraud, S.4
Koht, J.5
Motte, J.6
Rodriguez, D.7
Louha, M.8
Caubel, I.9
Kemlin, I.10
Lion-François, L.11
Goizet, C.12
Guillot, L.13
Moutard, M.L.14
Epaud, R.15
Héron, B.16
Charles, P.17
Tallot, M.18
Camuzat, A.19
Durr, A.20
Polak, M.21
Devos, D.22
Sanlaville, D.23
Vuillaume, I.24
Billette de Villemeur, T.25
Vidailhet, M.26
Doummar, D.27
more..
-
35
-
-
84861194601
-
Multiplex ligation dependent probe amplification improves the detection rate of NKX2-1 mutations in patients affected by brain-lung-thyroid syndrome
-
Teissier R, Guillot L, Carré A, Morandini M, Stuck- ens C, Ythier H, Munnich A, Szinnai G, de Blic J, Clement A, Leger J, Castanet M, Epaud R, Polak M: Multiplex ligation dependent probe amplification improves the detection rate of NKX2-1 mutations in patients affected by brain-lung-thyroid syndrome. Horm Res Paediatr 2012;77:146-151.
-
(2012)
Horm Res Paediatr ;
, vol.77
, pp. 146-151
-
-
Teissier, R.1
Guillot, L.2
Carré, A.3
Morandini, M.4
Stuck-ens, C.5
Ythier, H.6
Munnich, A.7
Szinnai, G.8
de Blic, J.9
Clement, A.10
Leger, J.11
Castanet, M.12
Epaud, R.13
Polak, M.14
-
36
-
-
18344404449
-
TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the on-set of differentiation
-
Zannini M, Avantaggiato V, Biffali E, Arnone M, Sato K, Pischetola M, Taylor BA, Phillips SJ, Simeone A, Di Lauro R: TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the on- set of differentiation. EMBO J 1997;16:3185-3197.
-
(1997)
EMBO J ;
, vol.16
, pp. 3185-3197
-
-
Zannini, M.1
Avantaggiato, V.2
Biffali, E.3
Arnone, M.4
Sato, K.5
Pischetola, M.6
Taylor, B.A.7
Phillips, S.J.8
Simeone, A.9
Di Lauro, R.10
-
37
-
-
17344366813
-
A mouse model for hereditary thyroid dys-genesis and cleft palate
-
De Felice M, Ovitt C, Biffali E, Arnone M, Sato K, Pischetola M, Taylor BA, Phillips SJ, Simeone A, Di Lauro R: A mouse model for hereditary thyroid dys- genesis and cleft palate. Nat Genet 1998;19:395-398.
-
(1998)
Nat Genet ;
, vol.19
, pp. 395-398
-
-
De Felice, M.1
Ovitt, C.2
Biffali, E.3
Arnone, M.4
Sato, K.5
Pischetola, M.6
Taylor, B.A.7
Phillips, S.J.8
Simeone, A.9
Di Lauro, R.10
-
38
-
-
0024555045
-
Congenital hypothyroidism, spiky hair, and cleft palate
-
Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper PS: Congenital hypothyroidism, spiky hair, and cleft palate. J Med Genet 1989;26:49-51.
-
(1989)
J Med Genet ;
, vol.26
, pp. 49-51
-
-
Bamforth, J.S.1
Hughes, I.A.2
Lazarus, J.H.3
Weaver, C.M.4
Harper, P.S.5
-
39
-
-
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 RLJ, Ludgate M, Chatterjee VK: Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 1998;1:399-401.
-
(1998)
Nat Genet ;
, vol.1
, pp. 399-401
-
-
Clifton-Bligh, R.J.1
Wentworth, J.M.2
Heinz, P.3
Crisp, M.S.4
John, RLJ5
Ludgate, M.6
Chatterjee, V.K.7
-
40
-
-
84898468689
-
A novel FOXE1 mutation (R73S) in Bam-forth-Lazarus syndrome causing increased thyroidal gene expression
-
Carré A, Hamza RT, Kariyawasam D, Guillot L, Teis- sier R, Tron E, Castanet M, Dupuy C, El Kholy M, Polak M: A novel FOXE1 mutation (R73S) in Bam- forth-Lazarus syndrome causing increased thyroidal gene expression. Thyroid 2014;24:649-654.
-
(2014)
Thyroid ;
, vol.24
, pp. 649-654
-
-
Carré, A.1
Hamza, R.T.2
Kariyawasam, D.3
Guillot, L.4
Teis-sier, R.5
Tron, E.6
Castanet, M.7
Dupuy, C.8
El Kholy, M.9
Polak, M.10
-
41
-
-
70450191205
-
FOXE1 association with both isolated cleft lip with or with-out cleft palate, and isolated cleft palate
-
Moreno LM, Mansilla MA, Bullard SA, Cooper ME, Busch TD, Machida J, Johnson MK, Brauer D, Krahn K, Daack-Hirsch S, L'heureux J, Valencia-Ramirez C, Rivera D, López AM, Moreno MA, Hing A, Lam- mer EJ, Jones M, Christensen K, Lie RT, Jugessur A, Wilcox AJ, Chines P, Pugh E, Doheny K, Arcos-Bur- gos M, Marazita ML, Murray JC, Lidral AC: FOXE1 association with both isolated cleft lip with or with- out cleft palate, and isolated cleft palate. Hum Mol Genet 2009;18:4879-4896.
-
(2009)
Hum Mol Genet ;
, vol.18
, pp. 4879-4896
-
-
Moreno, L.M.1
Mansilla, M.A.2
Bullard, S.A.3
Cooper, M.E.4
Busch, T.D.5
Machida, J.6
Johnson, M.K.7
Brauer, D.8
Krahn, K.9
Daack-Hirsch, S.10
L'heureux, J.11
Valencia-Ramirez, C.12
Rivera, D.13
López, A.M.14
Moreno, M.A.15
Hing, A.16
Lam-mer, E.J.17
Jones, M.18
Christensen, K.19
Lie, R.T.20
Jugessur, A.21
Wilcox, A.J.22
Chines, P.23
Pugh, E.24
Doheny, K.25
Arcos-Bur-gos, M.26
Marazita, M.L.27
Murray, J.C.28
Lidral, A.C.29
more..
-
42
-
-
78049442656
-
NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)
-
Reamon-Buettner SM, Borlak J: NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD). Hum Mutat 2010;31:1185-1194.
-
(2010)
Hum Mutat ;
, vol.31
, pp. 1185-1194
-
-
Reamon-Buettner, S.M.1
Borlak, J.2
-
43
-
-
18244368524
-
A population based study on the frequency of additional congenital mal-formations in infants with congenital hypothyroid-ism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998)
-
Olivieri A, Stazi MA, Mastoiacovo P, Fazzini C, Medda E, Spagnolo A, De Angelis S, Grandolo ME, Taruscio D, Cordeddu V, Scorcini M; Study Group for Congenital Hypothyroidism: A population based study on the frequency of additional congenital mal- formations in infants with congenital hypothyroid- ism: 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
Mastoiacovo, P.3
Fazzini, C.4
Medda, E.5
Spagnolo, A.6
De Angelis, S.7
Grandolo, M.E.8
Taruscio, D.9
Cordeddu, V.10
Scorcini, M.11
Study Group for Congenital, Hypothyroidism12
-
44
-
-
33646034932
-
Missense mutation in the tran-scription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis
-
Dentice M, Cordeddu V, Rosica A, Ferrare M, San- tarpia L, Salvatore D, Chivato 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, Tar- taglia M, Maccia PE: Missense mutation in the tran- scription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endo- crinol Metab 2006;91:1428-1433.
-
(2006)
J Clin Endo-crinol Metab ;
, vol.91
, pp. 1428-1433
-
-
Dentice, M.1
Cordeddu, V.2
Rosica, A.3
Ferrare, M.4
San-tarpia, L.5
Salvatore, D.6
Chivato, 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
Tar-taglia, M.19
Maccia, P.E.20
more..
-
45
-
-
84871685456
-
The am-biguous role of NKX2-5 mutations in thyroid dys-genesis
-
Mulder BJ, Postma AV. The am- biguous role of NKX2-5 mutations in thyroid dys- genesis. PLoS One 2012;7:e52685.
-
(2012)
PLoS One ;
, vol.7
, pp. e52685
-
-
Mulder, B.J.1
Postma, AV2
-
46
-
-
84886293598
-
Novel insights on thyroid-stimulating hor-mone receptor signal transduction
-
Kleinau G, Neumann S, Grüters A, Krude H, Bieber- mann H: Novel insights on thyroid-stimulating hor- mone receptor signal transduction. Endocr Rev 2013;34:691-724.
-
(2013)
Endocr Rev ;
, vol.34
, pp. 691-724
-
-
Kleinau, G.1
Neumann, S.2
Grüters, A.3
Krude, H.4
Bieber-mann, H.5
-
48
-
-
0037180569
-
Role of the thyroid-stimulating hormone receptor signalling in development and differentiation of the thyroid gland
-
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: Role of the thyroid-stimulating hormone receptor signalling in development and differentiation of the thyroid gland. Proc Natl Acad Sci USA 2002;99: 15462-15467.
-
(2002)
Proc Natl Acad Sci USA ;
, 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
-
49
-
-
65249173572
-
Nonclassical TSH mutations as a cause of congenital hypothyroidism in Japan: population based genetic epidemiology study
-
Narumi S, Muroya K, Abe Y, Yasui M, Asakura Y, Adachi M, Hasegawa T: Nonclassical TSH mutations as a cause of congenital hypothyroidism in Japan: population based genetic epidemiology study. J Clin Endocrinol Metab 2009;94:1317-1323.
-
(2009)
J Clin Endocrinol Metab ;
, vol.94
, pp. 1317-1323
-
-
Narumi, S.1
Muroya, K.2
Abe, Y.3
Yasui, M.4
Asakura, Y.5
Adachi, M.6
Hasegawa, T.7
-
50
-
-
18444389956
-
Germline mutations of TSH receptor gene as cause of nonautoimmune sub-clinical hypothyroidism
-
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 sub- clinical hypothyroidism. J Clin Endocrinol Metab 2002;87:2549-2555.
-
(2002)
J Clin Endocrinol Metab ;
, 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
-
51
-
-
77952875267
-
Genetics and phenomics of hypothyroidism due to TSH resis-tance
-
Persani L, Calebiro D, Cordella D, Weber G, Gelmi- ni G, Libri D, de Filippis T, Bonomi M: Genetics and phenomics of hypothyroidism due to TSH resis- tance. Mol Cell Endocrinol 2010;322:72-82.
-
(2010)
Mol Cell Endocrinol ;
, vol.322
, pp. 72-82
-
-
Persani, L.1
Calebiro, D.2
Cordella, D.3
Weber, G.4
Gelmi-ni, G.5
Libri, D.6
de Filippis, T.7
Bonomi, M.8
-
52
-
-
70449083386
-
Thyrotropin-stimulating hormone re-ceptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism
-
Nicoletti A, Bal M, De Marco G, Baldazzi L, Agretti P, Menabò S, Ballarini E, Cicognani A, Tonacchera M, Cassio A: Thyrotropin-stimulating hormone re- ceptor gene analysis in pediatric patients with non- autoimmune subclinical hypothyroidism. J Clin En- docrinol Metab 2009;94:4187-4194.
-
(2009)
J Clin En-docrinol Metab ;
, vol.94
, pp. 4187-4194
-
-
Nicoletti, A.1
Bal, M.2
De Marco, G.3
Baldazzi, L.4
Agretti, P.5
Menabò, S.6
Ballarini, E.7
Cicognani, A.8
Tonacchera, M.9
Cassio, A.10
-
53
-
-
0036333792
-
Eay1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid
-
Xu PX, Zheng W, Leclef C, Maire P, Maas RL, Peters H, Xu X: Eay1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid. De- velopment 2002;129:3033-3044.
-
(2002)
De-velopment ;
, vol.129
, pp. 3033-3044
-
-
Xu, P.X.1
Zheng, W.2
Leclef, C.3
Maire, P.4
Maas, R.L.5
Peters, H.6
Xu, X.7
-
54
-
-
0034124779
-
The homeobox gene Hhex is required in definitive endo-dermal tissues for normal forebrain, liver and thy-roid formation
-
Martinez-Barbera JP, Clements M, Thomas P, Ro- driguez T, Meloy D, Kioussis D, Beddington RS: The homeobox gene Hhex is required in definitive endo- dermal tissues for normal forebrain, liver and thy- roid formation. Development 2000;127:2433-2445.
-
(2000)
Development ;
, vol.127
, pp. 2433-2445
-
-
Martinez-Barbera, J.P.1
Clements, M.2
Thomas, P.3
Ro-driguez, T.4
Meloy, D.5
Kioussis, D.6
Beddington, R.S.7
-
55
-
-
0029030722
-
The role of Hoxa-3 in mouse thymus and thyroid development
-
Manley NR, Capecchi MR: The role of Hoxa-3 in mouse thymus and thyroid development. Develop- ment 1995;121:1989-2993.
-
(1995)
Develop-ment ;
, vol.121
, pp. 1989-2993
-
-
Manley, N.R.1
Capecchi, M.R.2
-
56
-
-
0032030895
-
Hox group 3 paralogs regulate the development and migration of the thy-mus, the thyroid, and parathyroid glands
-
Manley NR, Capecchi MR: Hox group 3 paralogs regulate the development and migration of the thy- mus, the thyroid, and parathyroid glands. Dev Biol 1998;195:1-15.
-
(1998)
Dev Biol ;
, vol.195
, pp. 1-15
-
-
Manley, N.R.1
Capecchi, M.R.2
-
57
-
-
57149109344
-
Expression of Islet1 in thy-roid development related to budding, migration, and fusion of primordial
-
Westerlund J, Andersson L, Carlsson T, Zoppoli P, Fagman H, Nilsson M: Expression of Islet1 in thy- roid development related to budding, migration, and fusion of primordial. Dev Dyn 2008;237:3820-3829.
-
(2008)
Dev Dyn ;
, vol.237
, pp. 3820-3829
-
-
Westerlund, J.1
Andersson, L.2
Carlsson, T.3
Zoppoli, P.4
Fagman, H.5
Nilsson, M.6
-
58
-
-
1942533388
-
Genetic deletion of sonic hedgehog causes hemia-genesis and ectopic development of the thyroid in the mouse
-
Fagman H, Grande M, Gritli-Linde A, Nilsson M: Genetic deletion of sonic hedgehog causes hemia- genesis and ectopic development of the thyroid in the mouse. Am J Pathol 2004;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
-
59
-
-
79952135187
-
Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland develop-ment
-
Carré A, Rachdi L, Tron E, Richard B, Castanet M, Schlumberger M, Bidart JM, Szinnai G, Polak M: Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland develop- ment. PLoS One 2011;6:e16752
-
(2011)
PLoS One ;
, vol.6
, pp. e16752
-
-
Carré, A.1
Rachdi, L.2
Tron, E.3
Richard, B.4
Castanet, M.5
Schlumberger, M.6
Bidart, J.M.7
Szinnai, G.8
Polak, M.9
-
60
-
-
77951626837
-
Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population based cohort of Japanese patients
-
Narumi S, Muroya K, Asakura Y, Adachi M, Hasega- wa T: Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population based cohort of Japanese patients. J Clin Endocrinol Metab 2010;95:1981-1985.
-
(2010)
J Clin Endocrinol Metab ;
, vol.95
, pp. 1981-1985
-
-
Narumi, S.1
Muroya, K.2
Asakura, Y.3
Adachi, M.4
Hasega-wa, T.5
-
61
-
-
80655134848
-
Molecular basis of thyroid dyshormonogene-sis: genetic screening in population-based Japanese patients
-
Narumi S, Muroya K, Asakura Y, Aachi M, Hasega- wa T: Molecular basis of thyroid dyshormonogene- sis: genetic screening in population-based Japanese patients. J Clin Endocrinol Metab 2011;96:E1838- E1842.
-
(2011)
J Clin Endocrinol Metab ;
, vol.96
, pp. E1838- E1842
-
-
Narumi, S.1
Muroya, K.2
Asakura, Y.3
Aachi, M.4
Hasega-wa, T.5
-
62
-
-
36348935021
-
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis
-
Carré A, Castanet M, Sura-Trueba S, Szinnai G, Van Vliet G, Trochet D, Amiel J, Léger J, Czernichow P, Scotet V, Polak M: Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis. Hum Genet 2007;122:467.
-
(2007)
Hum Genet ;
, vol.122
, pp. 467
-
-
Carré, A.1
Castanet, M.2
Sura-Trueba, S.3
Szinnai, G.4
Van Vliet, G.5
Trochet, D.6
Amiel, J.7
Léger, J.8
Czernichow, P.9
Scotet, V.10
Polak, M.11
-
63
-
-
77951700086
-
Mutation spectrum revealed by breakpoint sequencing of hu-man germline CNVs
-
Conrad DF, Bird C, Blackburne B, Lindsay S, Ma- manova L, Lee C, Turner DJ, Hurles ME: Mutation spectrum revealed by breakpoint sequencing of hu- man germline CNVs. Nat Genet 2010;42:385-391.
-
(2010)
Nat Genet ;
, vol.42
, pp. 385-391
-
-
Conrad, D.F.1
Bird, C.2
Blackburne, B.3
Lindsay, S.4
Ma-manova, L.5
Lee, C.6
Turner, D.J.7
Hurles, M.E.8
-
64
-
-
77954944963
-
Screening chro-mosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypo-thyroidism and thyroid dysgenesis
-
Thorwarth A, Mueller I, Biebermann H, Ropers HH, Grueters A, Krude H, Ullmann R: Screening chro- mosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypo- thyroidism and thyroid dysgenesis. J Clin Endocri- nol Metab 2010;95:3446-3452
-
(2010)
J Clin Endocri-nol Metab ;
, vol.95
, pp. 3446-3452
-
-
Thorwarth, A.1
Mueller, I.2
Biebermann, H.3
Ropers, H.H.4
Grueters, A.5
Krude, H.6
Ullmann, R.7
-
65
-
-
27844552888
-
Thyroid dysgenesis multi-genic or epigenetic...or both?
-
Vassart G, Dumont JE: Thyroid dysgenesis multi- genic or epigenetic...or both? Endocrinology 2005; 146:5035-5037.
-
(2005)
Endocrinology ;
, vol.146
, pp. 5035-5037
-
-
Vassart, G.1
Dumont, J.E.2
-
66
-
-
78149433455
-
Transcriptome, methylome and genetic variations analysis of ectopic thyroid glands
-
Abu-Khudir R, Paquette J, Lefort A, Libert F, Cha- noine JP, Vassart G, Deladoëy J: Transcriptome, methylome and genetic variations analysis of ectopic thyroid glands. PLoS One 2010;5:e13420.
-
(2010)
PLoS One ;
, vol.5
, pp. e13420
-
-
Abu-Khudir, R.1
Paquette, J.2
Lefort, A.3
Libert, F.4
Cha-noine, J.P.5
Vassart, G.6
Deladoëy, J.7
-
67
-
-
0041328169
-
An outline of inherited disorders of the thyroid hormone generating system
-
Knobel M, Medeires-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
Medeires-Neto, G.2
-
68
-
-
50849110142
-
Clin-ical description of infants with congenital hypothy-roidism and iodide organification defects
-
Cavarzere P, Castanet M, Polak M, Raux-Demay MC, Cabrol S, Carel JC, Léger J, Czernichow P: Clin- ical description of infants with congenital hypothy- roidism and iodide organification defects. Horm Res 2008;70:240-248.
-
(2008)
Horm Res ;
, vol.70
, pp. 240-248
-
-
Cavarzere, P.1
Castanet, M.2
Polak, M.3
Raux-Demay, M.C.4
Cabrol, S.5
Carel, J.C.6
Léger, J.7
Czernichow, P.8
-
71
-
-
0000387027
-
Congenital hypothy-roidism with goitre: absence of an iodide-concen-trating mechanism
-
Stanbury JB, Chapman EM: Congenital hypothy- roidism with goitre: absence of an iodide-concen- trating mechanism. Lancet 1960;i:1162.
-
(1960)
Lancet ;i
, pp. 1162
-
-
Stanbury, J.B.1
Chapman, E.M.2
-
72
-
-
0031156646
-
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
-
Fujiwara H, Tatsumi K, Miki K, Harada T, Miyai K, Taki S, Amino N: Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. Nat Genet 1997;16:124-125.
-
(1997)
Nat Genet ;
, vol.16
, pp. 124-125
-
-
Fujiwara, H.1
Tatsumi, K.2
Miki, K.3
Harada, T.4
Miyai, K.5
Taki, S.6
Amino, N.7
-
73
-
-
33646063580
-
Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide sym-porter gene and review of genotype-phenotype cor-relations in ITD
-
Szinnai G, Kosugi S, Derrien C, Lucidarme N, David V, Czernichow P, Polak M: Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide sym- porter gene and review of genotype-phenotype cor- relations in ITD. J Clin Endocrinol Metab 2006;91: 1199-1204.
-
(2006)
J Clin Endocrinol Metab ;
, vol.91
, pp. 1199-1204
-
-
Szinnai, G.1
Kosugi, S.2
Derrien, C.3
Lucidarme, N.4
David, V.5
Czernichow, P.6
Polak, M.7
-
74
-
-
84455208697
-
TSH regulates pen-drin membrane abundance and enhances iodide ef-flux in thyroid cells
-
Pesce L, Bizhanova A, Caraballo JC, Westphal W, Butti ML, Comellas A, Kopp P: TSH regulates pen- drin membrane abundance and enhances iodide ef- flux in thyroid cells. Endocrinology 2012;153:512- 521.
-
(2012)
Endocrinology ;
, vol.153
, pp. 512- 521
-
-
Pesce, L.1
Bizhanova, A.2
Caraballo, J.C.3
Westphal, W.4
Butti, M.L.5
Comellas, A.6
Kopp, P.7
-
75
-
-
16944366606
-
Pendred syndrome is caused by mutations in a putative sulphate trans-porter gene (PDS)
-
Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Hey- man M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED: Pendred syndrome is caused by mutations in a putative sulphate trans- porter gene (PDS). Nat Genet 1997;17:411-422.
-
(1997)
Nat Genet ;
, vol.17
, pp. 411-422
-
-
Everett, L.A.1
Glaser, B.2
Beck, J.C.3
Idol, J.R.4
Buchs, A.5
Hey-man, M.6
Adawi, F.7
Hazani, E.8
Nassir, E.9
Baxevanis, A.D.10
Sheffield, V.C.11
Green, E.D.12
-
76
-
-
77952879486
-
Genetics and phenomics of Pendred syndrome
-
Bizhanova A, Kopp P: Genetics and phenomics of Pendred syndrome. Mol Cell Endocrinol 2010;322: 83-90.
-
(2010)
Mol Cell Endocrinol ;
, vol.322
, pp. 83-90
-
-
Bizhanova, A.1
Kopp, P.2
-
77
-
-
84898466838
-
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct
-
Ladsous M, Vlaeminck-Guillem V, Dumur V, Vin- cent C, Dubrulle F, Dhaenens CM, Wémeau JL: Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. Thyroid 2014;24:639- 648.
-
(2014)
Thyroid ;
, vol.24
, pp. 639- 648
-
-
Ladsous, M.1
Vlaeminck-Guillem, V.2
Dumur, V.3
Vin-cent, C.4
Dubrulle, F.5
Dhaenens, C.M.6
Wémeau, J.L.7
-
78
-
-
84892142427
-
Identification of pendrin (SLC26A4) mu-tations in patients with congenital hypothyroidism and 'apparent' thyroid dysgenesis
-
Kühnen P, Turan S, Fröhler S, Güran T, Abali S, Biebermann H, Bereket A, Grüters A, Chen W, Krude H: Identification of pendrin (SLC26A4) mu- tations in patients with congenital hypothyroidism and 'apparent' thyroid dysgenesis. J Clin Endocrinol Metab 2014;99:E169-E176.
-
(2014)
J Clin Endocrinol Metab ;
, vol.99
, pp. 169-176
-
-
Kühnen, P.1
Turan, S.2
Fröhler, S.3
Güran, T.4
Abali, S.5
Biebermann, H.6
Bereket, A.7
Grüters, A.8
Chen, W.9
Krude, H.10
-
79
-
-
77952876664
-
Genetics and phenomics of hypothyroidism and goiter due to TPO mutations
-
Ris-Stalpers C, Bikker H: Genetics and phenomics of hypothyroidism and goiter due to TPO mutations. Mol Cell Endocrinol 2010;322:38-43.
-
(2010)
Mol Cell Endocrinol ;
, vol.322
, pp. 38-43
-
-
Ris-Stalpers, C.1
Bikker, H.2
-
80
-
-
0026474438
-
Identification of a mutation in the coding sequence of the human thyroid per-oxidase gene causing congenital goiter
-
Abramowicz MJ, Targovnik HM, Varela V, Cochaux P, Krawiec L, Pisarev MA, Propato FV, Juvenal G, Chester HA, Vassart G: Identification of a mutation in the coding sequence of the human thyroid per- oxidase gene causing congenital goiter. J Clin Invest 1992;90:1200-1204.
-
(1992)
J Clin Invest ;
, vol.90
, pp. 1200-1204
-
-
Abramowicz, M.J.1
Targovnik, H.M.2
Varela, V.3
Cochaux, P.4
Krawiec, L.5
Pisarev, M.A.6
Propato, F.V.7
Juvenal, G.8
Chester, H.A.9
Vassart, G.10
-
81
-
-
0033756917
-
Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defects (an update)
-
Bakker B, Bikker H, Vulsma T, de Randamie JSE, Wiedijk BM, De Vijlder JJM: Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defects (an update). J Clin Endori- nol Metab 2000;85:3708-3712.
-
(2000)
J Clin Endori-nol Metab ;
, vol.85
, pp. 3708-3712
-
-
Bakker, B.1
Bikker, H.2
Vulsma, T.3
de Randamie, J.S.E.4
Wiedijk, B.M.5
De Vijlder, J.J.M.6
-
82
-
-
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.
-
(2003)
Thyroid ;
, vol.13
, pp. 1145-1151
-
-
Nascimento, A.C.1
Guedes, D.R.2
Santos, C.S.3
Knobel, M.4
Rubio, I.G.5
Medeiros-Neto, G.6
-
83
-
-
39049085332
-
Pseudodomi-nant inheritance of goitrous congenital hypothy-roidism caused by TPO mutations: molecular and in silico studies
-
Deladoëy J, Pfarr N, Vuissoz JM, Parma J, Vassart G, Biesterfeld S, Pohlenz J, Van Vliet G: Pseudodomi- nant inheritance of goitrous congenital hypothy- roidism caused by TPO mutations: molecular and in silico studies. J Clin Endocrinol Metab 2008;93:627- 633.
-
(2008)
J Clin Endocrinol Metab ;
, vol.93
, pp. 627- 633
-
-
Deladoëy, J.1
Pfarr, N.2
Vuissoz, J.M.3
Parma, J.4
Vassart, G.5
Biesterfeld, S.6
Pohlenz, J.7
Van Vliet, G.8
-
84
-
-
0037063119
-
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism
-
Moreno JC, Bikker H, Kempers MJE, van Trotsen- burg AS, Baas F, de Vijlder JJM, Vulsma T, Ris-Stalp- ers C: Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 2002;347:95-102.
-
(2002)
N Engl J Med ;
, vol.347
, pp. 95-102
-
-
Moreno, J.C.1
Bikker, H.2
Kempers, M.J.E.3
van Trotsen-burg, A.S.4
Baas, F.5
de Vijlder, J.J.M.6
Vulsma, T.7
Ris-Stalp-ers, C.8
-
85
-
-
57349176149
-
Transient congenital hypothyroidism caused by bi-allelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program
-
Maruo Y, Takahashi H, Soeda I, Nishikura N, Matsui K, Ota Y, Mimura Y, Mori A, Sato H, Takeuchi Y: Transient congenital hypothyroidism caused by bi- allelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. J Clin Endocrinol Metab 2008;93:4261- 4267.
-
(2008)
J Clin Endocrinol Metab ;
, vol.93
, pp. 4261- 4267
-
-
Maruo, Y.1
Takahashi, H.2
Soeda, I.3
Nishikura, N.4
Matsui, K.5
Ota, Y.6
Mimura, Y.7
Mori, A.8
Sato, H.9
Takeuchi, Y.10
-
86
-
-
77950386307
-
Compound heterozygosity for a novel hemizy-gous missense mutation and a partial deletion affect-ing the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypo-thyroidism
-
Hoste C, Rigutto S, Van Vliet G, Miot F, De Deken X: Compound heterozygosity for a novel hemizy- gous missense mutation and a partial deletion affect- ing the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypo- thyroidism. Hum Mutat 2010;31:E1304-E1319.
-
(2010)
Hum Mutat ;
, vol.31
, pp. 1304-1319
-
-
Hoste, C.1
Rigutto, S.2
Van Vliet, G.3
Miot, F.4
De Deken, X.5
-
87
-
-
84895793589
-
The clinical and molecular characterization of patients with dyshormonogeneic congenital hypothyroidism reveals specific diagnos-tic clues for DUOX2 defects
-
Muzza M, Rabbiosi S, Vigone M, Zamproni I, Cire- llo V, Maffini M, Maruca K, Schoenmakers N, Bec- caria L, Gallo F, Park SM, Beck-Peccoz P, Persani L, Weber G, Fugazzola L: The clinical and molecular characterization of patients with dyshormonogeneic congenital hypothyroidism reveals specific diagnos- tic clues for DUOX2 defects. J Clin Endocrinol Metab 2014;99:E544-E553.
-
(2014)
J Clin Endocrinol Metab ;
, vol.99
, pp. 544-553
-
-
Muzza, M.1
Rabbiosi, S.2
Vigone, M.3
Zamproni, I.4
Cire-llo, V.5
Maffini, M.6
Maruca, K.7
Schoenmakers, N.8
Bec-caria, L.9
Gallo, F.10
Park, S.M.11
Beck-Peccoz, P.12
Persani, L.13
Weber, G.14
Fugazzola, L.15
-
88
-
-
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, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L, Weber G: Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab 2008;93:605-610.
-
(2008)
J Clin Endocrinol Metab ;
, vol.93
, pp. 605-610
-
-
Zamproni, I.1
Grasberger, H.2
Cortinovis, F.3
Vigone, M.C.4
Chiumello, G.5
Mora, S.6
Onigata, K.7
Fugazzola, L.8
Refetoff, S.9
Persani, L.10
Weber, G.11
-
89
-
-
77952876312
-
Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
-
Targovnik HM, Esperante SA, Rivolta CM: Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations. Mol Cell Endocrinol 2010; 322:44-55.
-
(2010)
Mol Cell Endocrinol ;
, vol.322
, pp. 44-55
-
-
Targovnik, H.M.1
Esperante, S.A.2
Rivolta, C.M.3
-
90
-
-
0026334976
-
A 3'-splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism
-
Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shi- moda S, Perret J, Vassart G: A 3'-splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. J Clin Invest 1991;88: 1901-1905.
-
(1991)
J Clin Invest ;
, vol.88
, pp. 1901-1905
-
-
Ieiri, T.1
Cochaux, P.2
Targovnik, H.M.3
Suzuki, M.4
Shi-moda, S.5
Perret, J.6
Vassart, G.7
-
91
-
-
0030481624
-
Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones
-
Medeiros-Neto G, Kim PS, Yoo SE, Vono J, Targov- nik H, Camargo R, Hossain SA, Arvan P: Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones. J Clin Invest 1996;98:2838-2844.
-
(1996)
J Clin Invest ;
, vol.98
, pp. 2838-2844
-
-
Medeiros-Neto, G.1
Kim, P.S.2
Yoo, S.E.3
Vono, J.4
Targov-nik, H.5
Camargo, R.6
Hossain, S.A.7
Arvan, P.8
-
92
-
-
84883547832
-
Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothy-roidism
-
Citterio CE, Rossetti LC, Souchon PF, Morales C, Thouvard-Viprey M, Salmon-Musial AS, Mauran PL, Doco-Fenzy M, González-Sarmiento R, Rivolta CM, De Brasi CD, Targovnik HM: Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothy- roidism. Mol Cell Endocrinol 2013;381:220-229.
-
(2013)
Mol Cell Endocrinol ;
, vol.381
, pp. 220-229
-
-
Citterio, C.E.1
Rossetti, L.C.2
Souchon, P.F.3
Morales, C.4
Thouvard-Viprey, M.5
Salmon-Musial, A.S.6
Mauran, P.L.7
Doco-Fenzy, M.8
González-Sarmiento, R.9
Rivolta, C.M.10
De Brasi, C.D.11
Targovnik, H.M.12
-
94
-
-
42549102374
-
Mutations in the iodotyrosine deiodinase gene and hypothyroidism
-
Moreno JC, Klootwijk W, van Toor H, Pinto G, D'Allessandro M, Leger A, Goudie D, Polak M, Grüters A, Visser TJ: Mutations in the iodotyrosine deiodinase gene and hypothyroidism. N Engl J Med 2008;358:1856-1859.
-
(2008)
N Engl J Med ;
, vol.358
, pp. 1856-1859
-
-
Moreno, J.C.1
Klootwijk, W.2
van Toor, H.3
Pinto, G.4
D'Allessandro, M.5
Leger, A.6
Goudie, D.7
Polak, M.8
Grüters, A.9
Visser, T.J.10
-
95
-
-
57349097244
-
Molecular characterization of iodotyrosine deha-logenase deficiency in patients with hypothyroidism
-
Afink G, Kulik W, Overmars H, de Randamie J, Veenboer T, van Cruchten A, Craen M, Ris-Stalpers C: Molecular characterization of iodotyrosine deha- logenase deficiency in patients with hypothyroidism. J Clin Endocrinol Metab 2008;93:4894.
-
(2008)
J Clin Endocrinol Metab ;
, vol.93
, pp. 4894
-
-
Afink, G.1
Kulik, W.2
Overmars, H.3
de Randamie, J.4
Veenboer, T.5
van Cruchten, A.6
Craen, M.7
Ris-Stalpers, C.8
-
96
-
-
84893811033
-
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism
-
Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G; ESPE- PES-SLEP-JSPE-APEG-APPES-ISPAE; Congenital Hypothyroidism Consensus Conference Group: European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab 2014;99:363-384.
-
(2014)
J Clin Endocrinol Metab ;
, vol.99
, pp. 363-384
-
-
Léger, J.1
Olivieri, A.2
Donaldson, M.3
Torresani, T.4
Krude, H.5
van Vliet, G.6
Polak, M.7
Butler, G.8
-
97
-
-
84897032935
-
European Society for Paediatric Endocrinology Consensus Guidelines on screening, diagnosis, and manage-ment of congenital hypothyroidism
-
Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G: European Society for Paediatric Endocrinology Consensus Guidelines on screening, diagnosis, and manage- ment of congenital hypothyroidism. Horm Res Paed 2014;81:80-103.
-
(2014)
Horm Res Paed ;
, vol.81
, pp. 80-103
-
-
Léger, J.1
Olivieri, A.2
Donaldson, M.3
Torresani, T.4
Krude, H.5
van Vliet, G.6
Polak, M.7
Butler, G.8
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