-
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
-
-
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 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.H.5
Ward, J.M.6
Gonzalez, F.J.7
-
4
-
-
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
-
5
-
-
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
-
6
-
-
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, Di Lauro 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
Di Lauro, R.14
Gruters, A.15
-
7
-
-
27844536962
-
A mouse model demonstrates a multigenic origin of congenital hypothyroidism
-
Amendola E, De Luca P, Emidio MP, Terracciano D, Rosica A, Chiappetta G, Kimura S, Mansouri A, Affuso A, Arra C, Macchia V, Di Lauro R, de Felice M 2005 A mouse model demonstrates a multigenic origin of congenital hypothyroidism. Endocrinology 146:5038-5047
-
(2005)
Endocrinology
, vol.146
, pp. 5038-5047
-
-
Amendola, E.1
De Luca, P.2
Emidio, M.P.3
Terracciano, D.4
Rosica, A.5
Chiappetta, G.6
Kimura, S.7
Mansouri, A.8
Affuso, A.9
Arra, C.10
Macchia, V.11
Di Lauro, R.12
De Felice, M.13
-
8
-
-
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
-
9
-
-
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
-
10
-
-
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
-
11
-
-
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
-
12
-
-
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
-
13
-
-
22444436353
-
Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity
-
Grasberger H, Ringkananont U, Lefrancois P, Abramowicz M, Vassart G, Refetoff S 2005 Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Mol Endocrinol 19:1779-1791
-
(2005)
Mol Endocrinol
, vol.19
, pp. 1779-1791
-
-
Grasberger, H.1
Ringkananont, U.2
Lefrancois, P.3
Abramowicz, M.4
Vassart, G.5
Refetoff, S.6
-
14
-
-
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, Lazarus JH, Ludgate M, Chatterjee VK 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
Lazarus, J.H.6
Ludgate, M.7
Chatterjee, V.K.8
-
15
-
-
17344366813
-
A mouse model for hereditary thyroid dysgenesis and cleft palate
-
de Felice M, Ovitt C, Biffali E, Rodriguez-Mallon A, Arra C, Anastassiadis K, Macchia PE, Mattei MG, Mariano A, Scholer H, Macchia V, Di Lauro R 1998 A mouse model for hereditary thyroid dysgenesis and cleft palate. Nat Genet 19:395-398
-
(1998)
Nat Genet
, vol.19
, pp. 395-398
-
-
De Felice, M.1
Ovitt, C.2
Biffali, E.3
Rodriguez-Mallon, A.4
Arra, C.5
Anastassiadis, K.6
Macchia, P.E.7
Mattei, M.G.8
Mariano, A.9
Scholer, H.10
Macchia, V.11
Di Lauro, R.12
-
16
-
-
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
-
17
-
-
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
-
18
-
-
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
-
19
-
-
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
-
20
-
-
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
-
21
-
-
25144450143
-
Contributions of low molecule number and chromosomal positioning to stochastic gene expression
-
Becskei A, Kaufmann BB, van Oudenaarden A 2005 Contributions of low molecule number and chromosomal positioning to stochastic gene expression. Nat Genet 37:937-944
-
(2005)
Nat Genet
, vol.37
, pp. 937-944
-
-
Becskei, A.1
Kaufmann, B.B.2
Van Oudenaarden, A.3
-
22
-
-
0036642103
-
Metastable epialleles in mammals
-
Rakyan VK, Blewitt ME, Druker R, Preis JI, Whitelaw E 2002 Metastable epialleles in mammals. Trends Genet 18:348-351
-
(2002)
Trends Genet
, vol.18
, pp. 348-351
-
-
Rakyan, V.K.1
Blewitt, M.E.2
Druker, R.3
Preis, J.I.4
Whitelaw, E.5
-
23
-
-
22544448418
-
Probabilistic regulation in TH2 cells accounts for monoallelic expression of IL-4 and IL-13
-
Guo LY, Hu-Li J, Paul WE 2005 Probabilistic regulation in TH2 cells accounts for monoallelic expression of IL-4 and IL-13. Immunity 23:89-99
-
(2005)
Immunity
, vol.23
, pp. 89-99
-
-
Guo, L.Y.1
Hu-Li, J.2
Paul, W.E.3
-
24
-
-
12544258978
-
Monoallelic expression and asynchronous replication of p120 catenin in mouse and human cells
-
Gimelbrant AA, Ensminger AW, Qi PM, Zucker J, Chess A 2005 Monoallelic expression and asynchronous replication of p120 catenin in mouse and human cells. J Biol Chem 280:1354-1359
-
(2005)
J Biol Chem
, vol.280
, pp. 1354-1359
-
-
Gimelbrant, A.A.1
Ensminger, A.W.2
Qi, P.M.3
Zucker, J.4
Chess, A.5
-
26
-
-
0038731119
-
Monoallelic expression of the murine gene encoding Toll-like receptor 4
-
Pereira JP, Girard R, Chaby R, Cumano A, Vieira P 2003 Monoallelic expression of the murine gene encoding Toll-like receptor 4. Nat Immunol 4:464-470
-
(2003)
Nat Immunol
, vol.4
, pp. 464-470
-
-
Pereira, J.P.1
Girard, R.2
Chaby, R.3
Cumano, A.4
Vieira, P.5
-
27
-
-
0035179350
-
Random monoallelic expression of three genes clustered within 60 kb of mouse t complex genomic DNA
-
Sano Y, Shimada T, Nakashima H, Nicholson RH, Eliason JF, Kocarek TA, Ko MSH 2001 Random monoallelic expression of three genes clustered within 60 kb of mouse t complex genomic DNA. Genome Res 11:1833-1841
-
(2001)
Genome Res
, vol.11
, pp. 1833-1841
-
-
Sano, Y.1
Shimada, T.2
Nakashima, H.3
Nicholson, R.H.4
Eliason, J.F.5
Kocarek, T.A.6
Ko, M.S.H.7
-
28
-
-
20144388220
-
Discordant MZ twins with cleft lip and palate: A model for identifying genes in complex traits
-
Mansilla MA, Kimani J, Mitchell LE, Christensen K, Boomsma DI, Daack-Hirsch S, Nepomucena B, Wyszynski DF, Felix TM, Martin NG, Murray JC 2005 Discordant MZ twins with cleft lip and palate: a model for identifying genes in complex traits. Twin Res Hum Genet 8:39-46
-
(2005)
Twin Res Hum Genet
, vol.8
, pp. 39-46
-
-
Mansilla, M.A.1
Kimani, J.2
Mitchell, L.E.3
Christensen, K.4
Boomsma, D.I.5
Daack-Hirsch, S.6
Nepomucena, B.7
Wyszynski, D.F.8
Felix, T.M.9
Martin, N.G.10
Murray, J.C.11
-
29
-
-
17444403604
-
Phenotypic differences in genetically identical organisms: The epigenetic perspective
-
Wong AHC, Gottesman II, Petronis A 2005 Phenotypic differences in genetically identical organisms: the epigenetic perspective. Hum Mol Genet 14:R11-R18
-
(2005)
Hum Mol Genet
, vol.14
-
-
Wong, A.H.C.1
Gottesman, I.I.2
Petronis, A.3
-
30
-
-
23044514669
-
Epigenetic differences arise during the lifetime of monozygotic twins
-
USA
-
Fraga MF, Ballestar E, Paz MF, Ropero S, Setien F, Ballestart ML, Heine-Suner D, Cigudosa JC, Urioste M, Benitez J, Boix-Chornet M, Sanchez-Aguilera A, Ling C, Carlsson E, Poulsen P, Vaag A, Stephan Z, Spector TD, Wu YZ, Plass C, Esteller M 2005 Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci USA 102:10604-10609
-
(2005)
Proc Natl Acad Sci
, vol.102
, pp. 10604-10609
-
-
Fraga, M.F.1
Ballestar, E.2
Paz, M.F.3
Ropero, S.4
Setien, F.5
Ballestart, M.L.6
Heine-Suner, D.7
Cigudosa, J.C.8
Urioste, M.9
Benitez, J.10
Boix-Chornet, M.11
Sanchez-Aguilera, A.12
Ling, C.13
Carlsson, E.14
Poulsen, P.15
Vaag, A.16
Stephan, Z.17
Spector, T.D.18
Wu, Y.Z.19
Plass, C.20
Esteller, M.21
more..
-
31
-
-
18444407168
-
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome
-
Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J 2002 Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet 11:1317-1325
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1317-1325
-
-
Weksberg, R.1
Shuman, C.2
Caluseriu, O.3
Smith, A.C.4
Fei, Y.L.5
Nishikawa, J.6
Stockley, T.L.7
Best, L.8
Chitayat, D.9
Olney, A.10
Ives, E.11
Schneider, A.12
Bestor, T.H.13
Li, M.14
Sadowski, P.15
Squire, J.16
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