-
1
-
-
84882781704
-
Thyroid disorders
-
D.L. Rimoin, R.E. Pyeritz, B. Korf, 6th ed. Academic Press [chapter 84]
-
M. Polak, and G. Szinnai Thyroid disorders D.L. Rimoin, R.E. Pyeritz, B. Korf, Emery and Rimoin's principles and practice of medical genetics 6th ed. 2013 Academic Press 1 24 [chapter 84]
-
(2013)
Emery and Rimoin's Principles and Practice of Medical Genetics
, pp. 1-24
-
-
Polak, M.1
Szinnai, G.2
-
2
-
-
84896088313
-
Hypothyroidism in infants and children: Congenital hypothyroidism
-
L.E. Braverman, D. Cooper, 10th ed. Lippincott Williams and Wilkins Philadelphia
-
G. Van Vliet, and J. Deladoëy Hypothyroidism in infants and children: congenital hypothyroidism L.E. Braverman, D. Cooper, Werner & Ingbar's the thyroid: a fundamental and clinical text 10th ed. 2012 Lippincott Williams and Wilkins Philadelphia 790 802
-
(2012)
Werner & Ingbar's the Thyroid: A Fundamental and Clinical Text
, pp. 790-802
-
-
Van Vliet, G.1
Deladoëy, J.2
-
4
-
-
0041834828
-
Genetic basis of hypothyroidism: Recent advances, gaps and strategies for future research
-
J.C. Moreno, J.J.M. de Vijlder, and T. Vulsma et al. Genetic basis of hypothyroidism: recent advances, gaps and strategies for future research Trends Endocrinol Metab 14 2003 318 326
-
(2003)
Trends Endocrinol Metab
, vol.14
, pp. 318-326
-
-
Moreno, J.C.1
De Vijlder, J.J.M.2
Vulsma, T.3
-
5
-
-
0041328169
-
An outline of inherited disorders of the thyroid hormone generating system
-
M. Knobel, and G. Medeiros-Neto An outline of inherited disorders of the thyroid hormone generating system Thyroid 13 2003 771 801
-
(2003)
Thyroid
, vol.13
, pp. 771-801
-
-
Knobel, M.1
Medeiros-Neto, G.2
-
6
-
-
0017876019
-
Congenital hypothyroidism in Sweden. Incidence and age at diagnosis
-
J. Alm, A. Larrson, and R. Zetterstrom Congenital hypothyroidism in Sweden. Incidence and age at diagnosis Acta Paediatr Scand 67 1978 1 3
-
(1978)
Acta Paediatr Scand
, vol.67
, pp. 1-3
-
-
Alm, J.1
Larrson, A.2
Zetterstrom, R.3
-
7
-
-
0021710297
-
Incidence of congenital hypothyroidism: Retrospective study of neonatal laboratory screening versus clinical symptoms as indicators leading to diagnosis
-
J. Alm, L. Hagenfeldt, and A. Larsson et al. Incidence of congenital hypothyroidism: retrospective study of neonatal laboratory screening versus clinical symptoms as indicators leading to diagnosis Br Med J 289 1984 1171 1175
-
(1984)
Br Med J
, vol.289
, pp. 1171-1175
-
-
Alm, J.1
Hagenfeldt, L.2
Larsson, A.3
-
8
-
-
8544225040
-
Timing of thyroid hormone action in the developing brain: Clinical observations and experimental findings
-
R.T. Zoeller, and J. Rovet Timing of thyroid hormone action in the developing brain: clinical observations and experimental findings J Neuroendocrinol 10 2004 809 818
-
(2004)
J Neuroendocrinol
, vol.10
, pp. 809-818
-
-
Zoeller, R.T.1
Rovet, J.2
-
9
-
-
0025011704
-
Congenital hypothyroidism, as studied in rats. Crucial role of maternal thyroxine but not of 3,5,3′-triiodothronine in the protection of the fetal brain
-
R. Calvo, M.J. Obregon, and C. Ruiz de Ona et al. Congenital hypothyroidism, as studied in rats. Crucial role of maternal thyroxine but not of 3,5,3′-triiodothronine in the protection of the fetal brain J Clin Invest 86 1990 889 899
-
(1990)
J Clin Invest
, vol.86
, pp. 889-899
-
-
Calvo, R.1
Obregon, M.J.2
Ruiz De Ona, C.3
-
10
-
-
33847216594
-
Thyroid hormone receptors in brain development and function
-
J. Bernal Thyroid hormone receptors in brain development and function Nat Clin Pract Endocrinol Metab 3 2007 249 259
-
(2007)
Nat Clin Pract Endocrinol Metab
, vol.3
, pp. 249-259
-
-
Bernal, J.1
-
11
-
-
0019467747
-
Effects of neonatal screening for hypothyroidism: Prevention of mental retardation by treatment before clinical manifestations
-
New England Congenital Hypothyroidism Collaborative
-
New England Congenital Hypothyroidism Collaborative Effects of neonatal screening for hypothyroidism: prevention of mental retardation by treatment before clinical manifestations Lancet 2 1981 1095 1098
-
(1981)
Lancet
, vol.2
, pp. 1095-1098
-
-
-
12
-
-
33644857701
-
Impact of specific medical interventions on reducing the prevalence of mental retardation
-
J.P. Brosco, M. Mattingly, and L.M. Sanders Impact of specific medical interventions on reducing the prevalence of mental retardation Arch Pediatr Adolesc Med 160 2006 302 309
-
(2006)
Arch Pediatr Adolesc Med
, vol.160
, pp. 302-309
-
-
Brosco, J.P.1
Mattingly, M.2
Sanders, L.M.3
-
13
-
-
79953230423
-
Prevention of intellectual disability through screening for congenital hypothyroidism: How much and at what level?
-
S.D. Grosse, and G. Van Vliet Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level? Arch Dis Child 96 2011 374 379
-
(2011)
Arch Dis Child
, vol.96
, pp. 374-379
-
-
Grosse, S.D.1
Van Vliet, G.2
-
14
-
-
0033306083
-
A search for the possible molecular mechanisms of thyroid dysgenesis: Sex ratios and associated malformations
-
H. Devos, C. Rodd, and N. Gagne et al. A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations J Clin Endocrinol Metab 84 1999 2502 2506
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 2502-2506
-
-
Devos, H.1
Rodd, C.2
Gagne, N.3
-
15
-
-
0030991994
-
Population study of congenital hypothyroidism and associated birth defects. Atlanta 1979-1992
-
H.E. Roberts, C.A. Moore, and P.M. Fernhoff Population study of congenital hypothyroidism and associated birth defects. Atlanta 1979-1992 Am J Med Genet 71 1997 29 32
-
(1997)
Am J Med Genet
, vol.71
, pp. 29-32
-
-
Roberts, H.E.1
Moore, C.A.2
Fernhoff, P.M.3
-
16
-
-
0026968920
-
Comparison of epidemiological data on congenital hypothyroidism in Europe with those in other parts of the world
-
J. Toublanc Comparison of epidemiological data on congenital hypothyroidism in Europe with those in other parts of the world Horm Res 38 1992 230 235
-
(1992)
Horm Res
, vol.38
, pp. 230-235
-
-
Toublanc, J.1
-
17
-
-
80855144841
-
The increased incidence of congenital hypothyroidism fact or fancy?
-
Endocrine Work Group
-
M.L. Mitchell, H.W. Hsu, I. Sahai Endocrine Work Group The increased incidence of congenital hypothyroidism fact or fancy? Clin Endocrinol (Oxf) 75 2011 806 810
-
(2011)
Clin Endocrinol (Oxf)
, vol.75
, pp. 806-810
-
-
Mitchell, M.L.1
Hsu, H.W.2
Sahai, I.3
-
18
-
-
79961215109
-
Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Québec
-
J. Deladoëy, J. Ruel, and Y. Giguère et al. Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Québec J Clin Endocrinol Metab 96 2011 2422 2429
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. 2422-2429
-
-
Deladoëy, J.1
Ruel, J.2
Giguère, Y.3
-
19
-
-
34249338694
-
Increase in congenital hypothyroidism in New York State and in the United States
-
K.B. Harris, and K.A. Pass Increase in congenital hypothyroidism in New York State and in the United States Mol Genet Metab 91 2007 268 277
-
(2007)
Mol Genet Metab
, vol.91
, pp. 268-277
-
-
Harris, K.B.1
Pass, K.A.2
-
20
-
-
77951824353
-
Trends in incidence rate of congenital hypothyroidism related to select demographic factors: Data from the United States, California, Massachussetts, New York, and Texas
-
C.F. Hinton, K.B. Harris, and L. Borgfeld et al. Trends in incidence rate of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachussetts, New York, and Texas Pediatrics 125 Suppl. 2 2010 S37 S47
-
(2010)
Pediatrics
, Issue.125 SUPPL. 2
-
-
Hinton, C.F.1
Harris, K.B.2
Borgfeld, L.3
-
21
-
-
77951865905
-
The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States
-
J.S. Park, M. Lin, and S.D. Grosse et al. The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States Pediatrics 125 Suppl. 2 2010 S54 S63
-
(2010)
Pediatrics
, Issue.125 SUPPL. 2
-
-
Park, J.S.1
Lin, M.2
Grosse, S.D.3
-
22
-
-
77956583136
-
Screening for congenital hypothyroidism: The significance of threshold limit in false-negative results
-
C. Mengreli, C. Kanaka-Gantenbein, and P. Girginoudis et al. Screening for congenital hypothyroidism: the significance of threshold limit in false-negative results J Clin Endocrinol Metab 95 2010 4283 4290
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 4283-4290
-
-
Mengreli, C.1
Kanaka-Gantenbein, C.2
Girginoudis, P.3
-
23
-
-
70349680738
-
A 7-year experience with low blood TS cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)
-
C. Corbetta, G. Weber, and F. Cortinovis et al. A 7-year experience with low blood TS cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH) Clin Endocrinol 71 2009 739 745
-
(2009)
Clin Endocrinol
, vol.71
, pp. 739-745
-
-
Corbetta, C.1
Weber, G.2
Cortinovis, F.3
-
24
-
-
0031755047
-
Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: Are athyreosis and ectopic thyroid distinct entities?
-
N. Gagné, J. Parma, and C. Deal et al. Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities? J Clin Endocrinol Metab 83 1998 1771 1775
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 1771-1775
-
-
Gagné, N.1
Parma, J.2
Deal, C.3
-
25
-
-
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)
-
A. Olivieri, M.A. Stazi, and P. Mastoiacovo et al. 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 87 2002 557 562
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 557-562
-
-
Olivieri, A.1
Stazi, M.A.2
Mastoiacovo, P.3
-
26
-
-
0002964496
-
Development of the thyroid, parathyroid and the thymus glands in man
-
G. Weller Development of the thyroid, parathyroid and the thymus glands in man Contrib Embryol 24 1933 93 140
-
(1933)
Contrib Embryol
, vol.24
, pp. 93-140
-
-
Weller, G.1
-
27
-
-
0020596417
-
The timing and sequence of events in the development of the human endocrine system during the embryonic period proper
-
R. O'Rahilly The timing and sequence of events in the development of the human endocrine system during the embryonic period proper Anat Embryol 166 1983 439 451
-
(1983)
Anat Embryol
, vol.166
, pp. 439-451
-
-
O'Rahilly, R.1
-
28
-
-
0003766843
-
-
Carnegie Institution of Washington Washington DC Publication 637. Carnegie Institute
-
R. O'Rahilly, and F. Müller Developmental stages in human embryos 1987 Carnegie Institution of Washington Washington DC Publication 637. Carnegie Institute
-
(1987)
Developmental Stages in Human Embryos
-
-
O'Rahilly, R.1
Müller, F.2
-
29
-
-
33846110810
-
Histochemical studies of the human fetal thyroid during the first half of fetal life
-
T.H. Shepard, H. Andersen, and H.J. Andersen Histochemical studies of the human fetal thyroid during the first half of fetal life Anat Rec 149 1964 363 380
-
(1964)
Anat Rec
, vol.149
, pp. 363-380
-
-
Shepard, T.H.1
Andersen, H.2
Andersen, H.J.3
-
30
-
-
0014109666
-
Onset of function in the human fetal thyroid: Biochemical and radioautographic studies from organ culture
-
T.H. Shepard Onset of function in the human fetal thyroid: biochemical and radioautographic studies from organ culture J Clin Endocrinol Metab 27 1967 945 958
-
(1967)
J Clin Endocrinol Metab
, vol.27
, pp. 945-958
-
-
Shepard, T.H.1
-
31
-
-
12244250148
-
PAX8, TITF1, and FOXE1 gene expression patterns during human development: New insights into human thyroid development and thyroid dysgenesis-associated malformations
-
S.S. Trueba, J. Augé, and G. Mattei et al. PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations J Clin Endocrinol Metab 90 2005 445 462
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 445-462
-
-
Trueba, S.S.1
Augé, J.2
Mattei, G.3
-
32
-
-
33846093170
-
Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus
-
G. Szinnai, L. Lacroix, and A. Carré et al. Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus J Clin Endocrinol Metab 92 2007 70 76
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 70-76
-
-
Szinnai, G.1
Lacroix, L.2
Carré, A.3
-
33
-
-
5444271023
-
Thyroid development and its disorders: Genetics and molecular mechanisms
-
M. De Felice, and R. Di Lauro Thyroid development and its disorders: genetics and molecular mechanisms Endocr Rev 25 2004 722 746
-
(2004)
Endocr Rev
, vol.25
, pp. 722-746
-
-
De Felice, M.1
Di Lauro, R.2
-
34
-
-
77952888303
-
Morphogenesis of the thyroid gland
-
H. Fagman, and M. Nilsson Morphogenesis of the thyroid gland Mol Cell Endocrinol 323 2010 35 54
-
(2010)
Mol Cell Endocrinol
, vol.323
, pp. 35-54
-
-
Fagman, H.1
Nilsson, M.2
-
35
-
-
70350225535
-
Vertebrate endoderm development and organ formation
-
A.M. Zorn, and J.M. Wells Vertebrate endoderm development and organ formation Annu Rev Cell Dev Biol 25 2009 221 251
-
(2009)
Annu Rev Cell Dev Biol
, vol.25
, pp. 221-251
-
-
Zorn, A.M.1
Wells, J.M.2
-
36
-
-
84865605252
-
Patterning and shaping of endoderm in vivo and in culture
-
M.R.C. Kraus, and A. Grapin-Botton Patterning and shaping of endoderm in vivo and in culture Curr Opin Genet Dev 22 2012 347 353
-
(2012)
Curr Opin Genet Dev
, vol.22
, pp. 347-353
-
-
Kraus, M.R.C.1
Grapin-Botton, A.2
-
37
-
-
0025084237
-
Pax8, a murine paired box gene expressed in the developing excretory system and the thyroid gland
-
D. Plachov, K. Chouwhury, and C. Walther et al. Pax8, a murine paired box gene expressed in the developing excretory system and the thyroid gland Development 110 1990 643 651
-
(1990)
Development
, vol.110
, pp. 643-651
-
-
Plachov, D.1
Chouwhury, K.2
Walther, C.3
-
38
-
-
0026340586
-
The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain
-
D. Lazzaro, M. Price, and M. De Felice et al. The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain Development 113 1991 1093 1104
-
(1991)
Development
, vol.113
, pp. 1093-1104
-
-
Lazzaro, D.1
Price, M.2
De Felice, M.3
-
39
-
-
18344404449
-
TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation
-
M. Zannini, V. Avantaggiato, and E. Biffali et al. TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation EMBO J 16 1997 3185 3197
-
(1997)
EMBO J
, vol.16
, pp. 3185-3197
-
-
Zannini, M.1
Avantaggiato, V.2
Biffali, E.3
-
40
-
-
0031984524
-
Hhex: A homeobox gene revealing peri-implantation asymmetry in the mouse embryo and an early transient marker of endothelial cell precursors
-
P.Q. Thomas, A. Brown, and R. Beddington Hhex: a homeobox gene revealing peri-implantation asymmetry in the mouse embryo and an early transient marker of endothelial cell precursors Development 125 1998 85 95
-
(1998)
Development
, vol.125
, pp. 85-95
-
-
Thomas, P.Q.1
Brown, A.2
Beddington, R.3
-
41
-
-
9944248248
-
An integrated regulatory network controlling survival and migration in thyroid organogenesis
-
R. Parlato, A. Rosica, and A. Rodriguez-Mallon et al. An integrated regulatory network controlling survival and migration in thyroid organogenesis Dev Biol 276 2004 464 475
-
(2004)
Dev Biol
, vol.276
, pp. 464-475
-
-
Parlato, R.1
Rosica, A.2
Rodriguez-Mallon, A.3
-
42
-
-
79952135187
-
Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland development
-
A. Carré, L. Rachdi, and E. Tron et al. Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland development PLoS One 6 2011 e16752
-
(2011)
PLoS One
, vol.6
, pp. 16752
-
-
Carré, A.1
Rachdi, L.2
Tron, E.3
-
43
-
-
84868374724
-
Generation of functional thyroid from embryonic stem cells
-
F. Antonica, D. Figini Kasprzyk, and R. Opitz et al. Generation of functional thyroid from embryonic stem cells Nature 491 2012 66 71
-
(2012)
Nature
, vol.491
, pp. 66-71
-
-
Antonica, F.1
Figini Kasprzyk, D.2
Opitz, R.3
-
44
-
-
0041314035
-
Expression of classical cadherins in thyroid development: Maintenance of an epithelial phenotype throughout organogenesis
-
H. Fagman, M. Grande, and J. Edsbagge et al. Expression of classical cadherins in thyroid development: maintenance of an epithelial phenotype throughout organogenesis Endocrinology 144 2003 3618 3624
-
(2003)
Endocrinology
, vol.144
, pp. 3618-3624
-
-
Fagman, H.1
Grande, M.2
Edsbagge, J.3
-
45
-
-
17344366813
-
A mouse model for hereditary thyroid dysgenesis and cleft palate
-
M. De Felice, C. Ovitt, and E. Biffali et al. A mouse model for hereditary thyroid dysgenesis and cleft palate Nat Genet 19 1998 395 398
-
(1998)
Nat Genet
, vol.19
, pp. 395-398
-
-
De Felice, M.1
Ovitt, C.2
Biffali, E.3
-
46
-
-
33744918272
-
Origin of the ultimobranchial body cyst: T/ebp/Nkx2.1 expression is required for development and fusion of the ultimobranchial body of the thyroid
-
T. Kusakabe, N. Hoshi, and S. Kimura Origin of the ultimobranchial body cyst: T/ebp/Nkx2.1 expression is required for development and fusion of the ultimobranchial body of the thyroid Dev Dyn 235 2006 1300 1309
-
(2006)
Dev Dyn
, vol.235
, pp. 1300-1309
-
-
Kusakabe, T.1
Hoshi, N.2
Kimura, S.3
-
47
-
-
1942533388
-
Genetic deletion of sonic hedgehog causes hemiagenesis and ectopic development of the thyroid in the mouse
-
H. Fagman, M. Grande, and A. Gritli-Linde et al. Genetic deletion of sonic hedgehog causes hemiagenesis and ectopic development of the thyroid in the mouse Am J Pathol 164 2004 1865 1872
-
(2004)
Am J Pathol
, vol.164
, pp. 1865-1872
-
-
Fagman, H.1
Grande, M.2
Gritli-Linde, A.3
-
48
-
-
0014871525
-
Biosynthesis of thyroglobulin related to the ultrastructure of the human fetal thyroid gland
-
P. Olin, R. Ekholm, and S. Almquist Biosynthesis of thyroglobulin related to the ultrastructure of the human fetal thyroid gland Endocrinology 87 1970 1000 1014
-
(1970)
Endocrinology
, vol.87
, pp. 1000-1014
-
-
Olin, P.1
Ekholm, R.2
Almquist, S.3
-
49
-
-
0014866920
-
Observations on the maturation of thyroid function in early fetal life
-
A.H. Greenberg, P. Czernichow, and R.C. Reba et al. Observations on the maturation of thyroid function in early fetal life J Clin Invest 49 1970 1790 1803
-
(1970)
J Clin Invest
, vol.49
, pp. 1790-1803
-
-
Greenberg, A.H.1
Czernichow, P.2
Reba, R.C.3
-
50
-
-
0026081983
-
Maturation of the secretion of thyroid hormone and thyroid-stimulating hormone in the fetus
-
G.J. Thorpe-Beeston, K.H. Nicolaides, and C.V. Felton et al. Maturation of the secretion of thyroid hormone and thyroid-stimulating hormone in the fetus N Engl J Med 324 1991 532 536
-
(1991)
N Engl J Med
, vol.324
, pp. 532-536
-
-
Thorpe-Beeston, G.J.1
Nicolaides, K.H.2
Felton, C.V.3
-
51
-
-
0036277831
-
Fetal tissues are exposed to biologically relevant free thyroxine concentrations during early phases of development
-
R.M. Calvo, E. Jauniaux, and B. Gulbis et al. Fetal tissues are exposed to biologically relevant free thyroxine concentrations during early phases of development J Clin Endocrinol Metab 87 2002 1768 1777
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 1768-1777
-
-
Calvo, R.M.1
Jauniaux, E.2
Gulbis, B.3
-
52
-
-
84960994848
-
The accumulation of radioactive iodine by human fetal thyroids
-
R.E. Hodges, T.C. Evans, and J.T. Bradbury et al. The accumulation of radioactive iodine by human fetal thyroids J Clin Endocrinol Metab 15 1955 661 667
-
(1955)
J Clin Endocrinol Metab
, vol.15
, pp. 661-667
-
-
Hodges, R.E.1
Evans, T.C.2
Bradbury, J.T.3
-
53
-
-
0036739991
-
Discordance of monozygotic twins for thyroid dysgenesis: Implications for screening and for molecular pathophysiology
-
R. Perry, C. Heinrichs, and P. Bourdoux et al. Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology J Clin Endocrinol Metab 87 2002 4027 4077
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4027-4077
-
-
Perry, R.1
Heinrichs, C.2
Bourdoux, P.3
-
54
-
-
35148864922
-
Possible non-Mendelian mechanisms of thyroid dysgenesis
-
J. Deladoëy, G. Vassart, and G. Van Vliet Possible non-Mendelian mechanisms of thyroid dysgenesis Endocr Dev 10 2007 29 42
-
(2007)
Endocr Dev
, vol.10
, pp. 29-42
-
-
Deladoëy, J.1
Vassart, G.2
Van Vliet, G.3
-
55
-
-
0034999523
-
Nineteen years of national screening for congenital hypothyroidism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors
-
M. Castanet, M. Polak, and C. Bonaïti-Pellié et al. Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors J Clin Endocrinol Metab 86 2001 2009 2014
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 2009-2014
-
-
Castanet, M.1
Polak, M.2
Bonaïti-Pellié, C.3
-
56
-
-
0036170727
-
Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism
-
J. Léger, D. Marinovic, and C. Garel et al. Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism J Clin Endocrinol Metab 87 2002 575 580
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 575-580
-
-
Léger, J.1
Marinovic, D.2
Garel, C.3
-
57
-
-
0036333792
-
Eay1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid
-
P.X. Xu, W. Zheng, and C. Leclef et al. Eay1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid Development 129 2002 3033 3044
-
(2002)
Development
, vol.129
, pp. 3033-3044
-
-
Xu, P.X.1
Zheng, W.2
Leclef, C.3
-
58
-
-
0034124779
-
The homeobox gene Hhex is required in definitive endodermal tissues for normal forebrain, liver and thyroid formation
-
J.P. Martinez-Barbera, M. Clements, and P. Thomas et al. The homeobox gene Hhex is required in definitive endodermal tissues for normal forebrain, liver and thyroid formation Development 127 2000 2433 2445
-
(2000)
Development
, vol.127
, pp. 2433-2445
-
-
Martinez-Barbera, J.P.1
Clements, M.2
Thomas, P.3
-
59
-
-
0029030722
-
The role of Hoxa-3 in mouse thymus and thyroid development
-
N.R. Manley, and M.R. Capecchi The role of Hoxa-3 in mouse thymus and thyroid development Development 121 1995 1989 2003
-
(1995)
Development
, vol.121
, pp. 1989-2003
-
-
Manley, N.R.1
Capecchi, M.R.2
-
60
-
-
0032030895
-
Hox group 3 paralogs regulate the development and migration of the thymus, the thyroid, and parathyroid glands
-
N.R. Manley, and M.R. Capecchi Hox group 3 paralogs regulate the development and migration of the thymus, the thyroid, and parathyroid glands Dev Biol 195 1998 1 15
-
(1998)
Dev Biol
, vol.195
, pp. 1-15
-
-
Manley, N.R.1
Capecchi, M.R.2
-
61
-
-
57149109344
-
Expression of Islet1 in thyroid development related to budding, migration, and fusion of primordial
-
J. Westerlund, L. Andersson, and T. Carlsson et al. Expression of Islet1 in thyroid development related to budding, migration, and fusion of primordial Dev Dyn 237 2008 3820 3829
-
(2008)
Dev Dyn
, vol.237
, pp. 3820-3829
-
-
Westerlund, J.1
Andersson, L.2
Carlsson, T.3
-
62
-
-
0030057596
-
The T/ebp null mouse: Thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary
-
S. Kimura, Y. Hara, and T. Pineau et al. 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 1996 60 69
-
(1996)
Genes Dev
, vol.10
, pp. 60-69
-
-
Kimura, S.1
Hara, Y.2
Pineau, T.3
-
63
-
-
33646034932
-
Missense mutation in the transcription factor NKX2-5: A novel molecular event in the pathogenesis of thyroid dysgenesis
-
M. Dentice, V. Cordeddu, and A. Rosica et al. Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis J Clin Endocrinol Metab 91 2006 1428 1433
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1428-1433
-
-
Dentice, M.1
Cordeddu, V.2
Rosica, A.3
-
64
-
-
0031777309
-
Follicular cells of the thyroid gland require Pax8 gene function
-
A. Mansouri, K. Chowhury, and P. Gruss Follicular cells of the thyroid gland require Pax8 gene function Nat Genet 19 1998 87 90
-
(1998)
Nat Genet
, vol.19
, pp. 87-90
-
-
Mansouri, A.1
Chowhury, K.2
Gruss, P.3
-
65
-
-
9844262802
-
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1
-
S. Abdelhak, V. Kalatzis, and R. Heilig et al. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1 Hum Mol Genet 6 1997 2247 2255
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2247-2255
-
-
Abdelhak, S.1
Kalatzis, V.2
Heilig, R.3
-
66
-
-
0031820442
-
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
-
R.J. Clifton-Bligh, J.M. Wentworth, and P. Heinz et al. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia Nat Genet 1 1998 399 401
-
(1998)
Nat Genet
, vol.1
, pp. 399-401
-
-
Clifton-Bligh, R.J.1
Wentworth, J.M.2
Heinz, P.3
-
67
-
-
34249071606
-
Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: Identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism
-
E. Al Taji, H. Biebermann, and Z. Limanova et al. Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism Eur J Endocrinol 156 2007 521 529
-
(2007)
Eur J Endocrinol
, vol.156
, pp. 521-529
-
-
Al Taji, E.1
Biebermann, H.2
Limanova, Z.3
-
68
-
-
84858779683
-
Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis
-
A.M. Ferrara, G. Rossi, and E. Zampella et al. Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis J Endocrinol Invest 34 2011 e149 152
-
(2011)
J Endocrinol Invest
, vol.34
, pp. 149-152
-
-
Ferrara, A.M.1
Rossi, G.2
Zampella, E.3
-
69
-
-
0032580483
-
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure
-
K. Devriendt, C. Vanhole, and G. Matthijs et al. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure N Engl J Med 338 1998 1317 1318
-
(1998)
N Engl J Med
, vol.338
, pp. 1317-1318
-
-
Devriendt, K.1
Vanhole, C.2
Matthijs, G.3
-
70
-
-
17344374131
-
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
-
P.E. Macchia, P. Lapi, and H. Krude et al. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis Nat Genet 19 1998 83 86
-
(1998)
Nat Genet
, vol.19
, pp. 83-86
-
-
Macchia, P.E.1
Lapi, P.2
Krude, H.3
-
71
-
-
0028888593
-
Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene
-
T. Sunthornthepvarakul, M.E. Gootschalk, and Y. Hayashi et al. Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene N Engl J Med 332 1995 155 160
-
(1995)
N Engl J Med
, vol.332
, pp. 155-160
-
-
Sunthornthepvarakul, T.1
Gootschalk, M.E.2
Hayashi, Y.3
-
72
-
-
67651250122
-
Mutations in TAZ/WWTR1, a co-activator of NKX2-1 and PAX8 are not a frequent cause of thyroid dysgenesis
-
A.M. Ferrara, L. De Sanctis, and G. Rossi et al. Mutations in TAZ/WWTR1, a co-activator of NKX2-1 and PAX8 are not a frequent cause of thyroid dysgenesis J Endocrinol Invest 32 2009 238 241
-
(2009)
J Endocrinol Invest
, vol.32
, pp. 238-241
-
-
Ferrara, A.M.1
De Sanctis, L.2
Rossi, G.3
-
73
-
-
0024826133
-
Molecular cloning of the thyrotropin receptor
-
M. Parmentier, F. Libert, and C. Maenhaupt et al. Molecular cloning of the thyrotropin receptor Science 246 1989 1620 1622
-
(1989)
Science
, vol.246
, pp. 1620-1622
-
-
Parmentier, M.1
Libert, F.2
Maenhaupt, C.3
-
74
-
-
0026743033
-
The thyrotropin receptor and the regulation of thyrocyte function and growth
-
G. Vassart, and J.E. Dumont The thyrotropin receptor and the regulation of thyrocyte function and growth Endocr Rev 13 1992 596 611
-
(1992)
Endocr Rev
, vol.13
, pp. 596-611
-
-
Vassart, G.1
Dumont, J.E.2
-
75
-
-
0038182549
-
Glycoprotein hormone receptors: Determinants in leucine rich repeats responsible for ligand specificity
-
G. Smits, M. Campillo, and C. Govaerts et al. Glycoprotein hormone receptors: determinants in leucine rich repeats responsible for ligand specificity EMBO J 22 2003 2692 2703
-
(2003)
EMBO J
, vol.22
, pp. 2692-2703
-
-
Smits, G.1
Campillo, M.2
Govaerts, C.3
-
76
-
-
0036083401
-
Thyroid-stimulating hormone and thyroid-stimulating hormone receptor structure-function relationships
-
M.W. Szkudlinski, V. Fremont, and C. Ronin et al. Thyroid-stimulating hormone and thyroid-stimulating hormone receptor structure-function relationships Physiol Rev 82 2002 473 502
-
(2002)
Physiol Rev
, vol.82
, pp. 473-502
-
-
Szkudlinski, M.W.1
Fremont, V.2
Ronin, C.3
-
77
-
-
0037180569
-
Role of the thyroid-stimulating hormone receptor signalling in development and differentiation of the thyroid gland
-
M.P. Postiglione, R. Parlato, and A. Rodriguez-Mallon et al. Role of the thyroid-stimulating hormone receptor signalling in development and differentiation of the thyroid gland Proc Natl Acad Sci U S A 99 2002 15462 15467
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 15462-15467
-
-
Postiglione, M.P.1
Parlato, R.2
Rodriguez-Mallon, A.3
-
78
-
-
80054734434
-
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism
-
S.T. Lee, D.H. Lee, and J.Y. Kim et al. Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism Clin Endocrinol 75 2011 715 721
-
(2011)
Clin Endocrinol
, vol.75
, pp. 715-721
-
-
Lee, S.T.1
Lee, D.H.2
Kim, J.Y.3
-
79
-
-
65249173572
-
Nonclassical TSH mutations as a cause of congenital hypothyroidism in Japan: Population based genetic epidemiology study
-
S. Narumi, K. Muroya, and Y. Abe et al. Nonclassical TSH mutations as a cause of congenital hypothyroidism in Japan: population based genetic epidemiology study J Clin Endocrinol Metab 94 2009 1317 1323
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 1317-1323
-
-
Narumi, S.1
Muroya, K.2
Abe, Y.3
-
80
-
-
84862827106
-
R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children
-
W.C. Chang, C.Y. Liao, and W.C. Chen et al. R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children Clin Chim Acta 413 2012 1004 1007
-
(2012)
Clin Chim Acta
, vol.413
, pp. 1004-1007
-
-
Chang, W.C.1
Liao, C.Y.2
Chen, W.C.3
-
81
-
-
70449083386
-
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism
-
A. Nicoletti, M. Bal, and G. De Marco et al. Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism J Clin Endocrinol Metab 94 2009 4187 4194
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 4187-4194
-
-
Nicoletti, A.1
Bal, M.2
De Marco, G.3
-
82
-
-
67650257691
-
Subclinical hypothyroidism in children and adolescents: A wide range of clinical biochemical and genetic factors involved
-
A. Rapa, A. Monzani, and S. Moia et al. Subclinical hypothyroidism in children and adolescents: a wide range of clinical biochemical and genetic factors involved J Clin Endocrinol Metab 94 2009 2414 2420
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 2414-2420
-
-
Rapa, A.1
Monzani, A.2
Moia, S.3
-
83
-
-
84855512467
-
Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia
-
D. Calebiro, G. Gelmini, and D. Cordella et al. Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia J Clin Endocrinol Metab 97 2012 E156 E160
-
(2012)
J Clin Endocrinol Metab
, vol.97
-
-
Calebiro, D.1
Gelmini, G.2
Cordella, D.3
-
84
-
-
18444389956
-
Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism
-
L. Alberti, M.C. Proverbio, and S. Costagliola et al. Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism J Clin Endocrinol Metab 87 2002 2549 2555
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 2549-2555
-
-
Alberti, L.1
Proverbio, M.C.2
Costagliola, S.3
-
85
-
-
66449095740
-
Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene
-
H. Mizuno, K. Kanda, and Y. Sugiyama et al. Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene Horm Res 71 2009 318 323
-
(2009)
Horm Res
, vol.71
, pp. 318-323
-
-
Mizuno, H.1
Kanda, K.2
Sugiyama, Y.3
-
86
-
-
66149109163
-
Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community
-
Y. Tennenbaum-Rakover, H. Grasberger, and S. Mamanasiri et al. Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community J Clin Endocrinol Metab 94 2009 1706 1712
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 1706-1712
-
-
Tennenbaum-Rakover, Y.1
Grasberger, H.2
Mamanasiri, S.3
-
87
-
-
0029990850
-
The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis
-
H. Krude, H. Biebermann, and W. Göpel et al. The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis Exp Clin Endocrinol Diabetes 104 Suppl. 4 1996 117 120
-
(1996)
Exp Clin Endocrinol Diabetes
, Issue.104 SUPPL. 4
, pp. 117-120
-
-
Krude, H.1
Biebermann, H.2
Göpel, W.3
-
88
-
-
0034885770
-
A novel mutation(Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child
-
T. Congdon, L.Q. Nguyen, and C.R. Nogueira et al. 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 2001 3962 3967
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3962-3967
-
-
Congdon, T.1
Nguyen, L.Q.2
Nogueira, C.R.3
-
89
-
-
43449097894
-
Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism
-
Z.F. Yuan, H.Q. Mao, and Y.F. Luo et al. Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism Endocr J 55 2008 415 423
-
(2008)
Endocr J
, vol.55
, pp. 415-423
-
-
Yuan, Z.F.1
Mao, H.Q.2
Luo, Y.F.3
-
90
-
-
58149263375
-
Clinical and molecular analysis of thyroid hypoplasia: A population based approach in southern Brazil
-
H.E. Ramos, S. Nesi-França, and V.T. Boldarine et al. Clinical and molecular analysis of thyroid hypoplasia: a population based approach in southern Brazil Thyroid 19 2009 61 68
-
(2009)
Thyroid
, vol.19
, pp. 61-68
-
-
Ramos, H.E.1
Nesi-França, S.2
Boldarine, V.T.3
-
91
-
-
78449277937
-
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism
-
H. Cangul, N.V. Morgan, and J.R. Forman et al. Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism Clin Endocrinol 73 2010 671 677
-
(2010)
Clin Endocrinol
, vol.73
, pp. 671-677
-
-
Cangul, H.1
Morgan, N.V.2
Forman, J.R.3
-
92
-
-
79955509430
-
High frequency of D727E polymorphisms in exon 10 of the TSHR gene in Brazilian patients with congenital hypothyroidism
-
E.A. Alves, C.M. Cruz, and C.P. Pimentel et al. High frequency of D727E polymorphisms in exon 10 of the TSHR gene in Brazilian patients with congenital hypothyroidism J Pediatr Endocrinol Metab 23 2010 1321 1328
-
(2010)
J Pediatr Endocrinol Metab
, vol.23
, pp. 1321-1328
-
-
Alves, E.A.1
Cruz, C.M.2
Pimentel, C.P.3
-
93
-
-
84862704576
-
Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis
-
E. Brust, C.B. Beltrao, and M.C. Chammas et al. Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis Arq Bras Endocrinol Metab 56 2012 173 177
-
(2012)
Arq Bras Endocrinol Metab
, vol.56
, pp. 173-177
-
-
Brust, E.1
Beltrao, C.B.2
Chammas, M.C.3
-
94
-
-
0027533927
-
Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9
-
P. Stapleton, A. Weith, and P. Urbanek et al. Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9 Nat Genet 3 1993 292 298
-
(1993)
Nat Genet
, vol.3
, pp. 292-298
-
-
Stapleton, P.1
Weith, A.2
Urbanek, P.3
-
96
-
-
4544229648
-
Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid
-
L. Meeus, B. Gilbert, and C. Rydlewski et al. 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 2004 4285 4291
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 4285-4291
-
-
Meeus, L.1
Gilbert, B.2
Rydlewski, C.3
-
97
-
-
79956313876
-
Congenital hypothyroidism caused by a PAX8 gene mutation manifested as sodium/iodide symporter gene defect
-
W. Jo, K. Ishizu, and K. Fujieda et al. Congenital hypothyroidism caused by a PAX8 gene mutation manifested as sodium/iodide symporter gene defect J Thyroid Res 2010 2010 619013
-
(2010)
J Thyroid Res
, vol.2010
, pp. 619013
-
-
Jo, W.1
Ishizu, K.2
Fujieda, K.3
-
98
-
-
83155187242
-
PAX8 mutation disturbing thyroid follicular growth: A case report
-
S. Narumi, A. Yoshida, and K. Muroya et al. PAX8 mutation disturbing thyroid follicular growth: a case report J Clin Endocrinol Metab 96 2011 E2039 E2044
-
(2011)
J Clin Endocrinol Metab
, vol.96
-
-
Narumi, S.1
Yoshida, A.2
Muroya, K.3
-
99
-
-
17744381340
-
Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8
-
C. Vilain, C. Rydlewski, and L. Duprez et al. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8 J Clin Endocrinol Metab 86 2001 234 238
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 234-238
-
-
Vilain, C.1
Rydlewski, C.2
Duprez, L.3
-
100
-
-
8744282728
-
Familial PAX8 small deletion (c.989-992delACCC) associated with extreme phenotype variability
-
L. De Sanctis, A. Corrias, and D. Romagnolo et al. Familial PAX8 small deletion (c.989-992delACCC) associated with extreme phenotype variability J Clin Endocrinol Metab 89 2004 5669 5674
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 5669-5674
-
-
De Sanctis, L.1
Corrias, A.2
Romagnolo, D.3
-
101
-
-
19444374566
-
Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without PAX8 mutations in a cohort of 22 cases
-
M. Castanet, L. Leenhardt, and J. Léger et al. 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 2005 908 913
-
(2005)
Pediatr Res
, vol.57
, pp. 908-913
-
-
Castanet, M.1
Leenhardt, L.2
Léger, J.3
-
102
-
-
33746344300
-
Screening for PAX8 mutations in patients with congenital hypothyroidism in South-West Germany
-
K. Lanzerath, M. Bettendorf, and C. Haag et al. Screening for PAX8 mutations in patients with congenital hypothyroidism in South-West Germany Horm Res 66 2006 96 100
-
(2006)
Horm Res
, vol.66
, pp. 96-100
-
-
Lanzerath, K.1
Bettendorf, M.2
Haag, C.3
-
103
-
-
34250772461
-
Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: Identification of a novel sequence variant
-
M. Tonacchera, M.E. Banco, and L. Montanelli et al. Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant Clin Endocrinol 67 2007 34 40
-
(2007)
Clin Endocrinol
, vol.67
, pp. 34-40
-
-
Tonacchera, M.1
Banco, M.E.2
Montanelli, L.3
-
104
-
-
42149129641
-
Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, pG336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands
-
S.A. Esperante, C.M. Rivolta, and L. Miravalle et al. Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, pG336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands Clin Endocrinol 68 2008 828 835
-
(2008)
Clin Endocrinol
, vol.68
, pp. 828-835
-
-
Esperante, S.A.1
Rivolta, C.M.2
Miravalle, L.3
-
105
-
-
77951626837
-
Transcription factor mutations and congenital hypothyroidism: Systematic genetic screening of a population-based cohort of Japanese patients
-
S. Narumi, K. Muroya, and Y. Asakura et al. Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients J Clin Endocrinol Metab 95 2010 1981 1985
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 1981-1985
-
-
Narumi, S.1
Muroya, K.2
Asakura, Y.3
-
106
-
-
77957748607
-
Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis
-
F. Mahjoubi, M.M. Mohammadi, and M. Montazeri et al. Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis Arq Bras Endocrinol Metab 54 2010 555 559
-
(2010)
Arq Bras Endocrinol Metab
, vol.54
, pp. 555-559
-
-
Mahjoubi, F.1
Mohammadi, M.M.2
Montazeri, M.3
-
107
-
-
83455200241
-
Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: Identification of the recurrent p.Arg31His mutation
-
M.A. Alcantara-Ortigoza, A. Gonzalez-del Angel, and V. Martinez-Cruz et al. Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation Clin Endocrinol 76 2011 148 149
-
(2011)
Clin Endocrinol
, vol.76
, pp. 148-149
-
-
Alcantara-Ortigoza, M.A.1
Gonzalez-Del Angel, A.2
Martinez-Cruz, V.3
-
108
-
-
84871897603
-
Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism
-
S.G. Liu, S.S. Zhang, and L.Q. Zhang et al. Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism J Endocrinol Invest 35 2012 889 892
-
(2012)
J Endocrinol Invest
, vol.35
, pp. 889-892
-
-
Liu, S.G.1
Zhang, S.S.2
Zhang, L.Q.3
-
109
-
-
84896088851
-
PAX8 mutations in congenital hypothyroidism: New evidence for phenotypic variability from normal to ectopic thyroid gland
-
34 (Meeting Abstracts): OR50-2
-
H.E. Ramos, A. Carre, and G. Szinnai et al. PAX8 mutations in congenital hypothyroidism: new evidence for phenotypic variability from normal to ectopic thyroid gland Endocr Rev 2013 34 (Meeting Abstracts): OR50-2
-
(2013)
Endocr Rev
-
-
Ramos, H.E.1
Carre, A.2
Szinnai, G.3
-
110
-
-
0037101847
-
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate
-
M. Castanet, S.M. Park, and A. Smith et al. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate Hum Mol Genet 11 2002 2051 2059
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2051-2059
-
-
Castanet, M.1
Park, S.M.2
Smith, A.3
-
111
-
-
70450191205
-
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate
-
L.M. Moreno, M.A. Mansilla, and S.A. Bullard et al. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate Hum Mol Genet 18 2009 4879 4896
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4879-4896
-
-
Moreno, L.M.1
Mansilla, M.A.2
Bullard, S.A.3
-
112
-
-
79951800135
-
Cleft lip and palate: Understanding genetic and environmental influences
-
M.J. Dixon, M.L. Marazita, and T.H. Beaty et al. Cleft lip and palate: understanding genetic and environmental influences Nat Rev Genet 12 2011 167 178
-
(2011)
Nat Rev Genet
, vol.12
, pp. 167-178
-
-
Dixon, M.J.1
Marazita, M.L.2
Beaty, T.H.3
-
113
-
-
0025010740
-
Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA-binding specificity
-
S. Guazzi, M. Price, and M. De Felice et al. Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA-binding specificity EMBO J 9 1990 3631 3639
-
(1990)
EMBO J
, vol.9
, pp. 3631-3639
-
-
Guazzi, S.1
Price, M.2
De Felice, M.3
-
114
-
-
20444412260
-
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa
-
F. Asmus, V. Horber, and J. Pohlenz et al. A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa Neurology 64 2005 1952 1954
-
(2005)
Neurology
, vol.64
, pp. 1952-1954
-
-
Asmus, F.1
Horber, V.2
Pohlenz, J.3
-
115
-
-
75149175193
-
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "brain-Lung-Thyroid Syndrome"
-
L. Guillot, A. Carre, and G. Szinnai et al. NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome" Hum Mut 31 2010 E1146
-
(2010)
Hum Mut
, vol.31
, pp. 1146
-
-
Guillot, L.1
Carre, A.2
Szinnai, G.3
-
116
-
-
0024425390
-
A thyroid-specific nuclear protein essential for tissue-specific expression of the thyroglobulin promoter
-
D. Civitareale, R. Lonigro, and A.J. Sinclair et al. A thyroid-specific nuclear protein essential for tissue-specific expression of the thyroglobulin promoter EMBO J 8 1989 2537 2542
-
(1989)
EMBO J
, vol.8
, pp. 2537-2542
-
-
Civitareale, D.1
Lonigro, R.2
Sinclair, A.J.3
-
117
-
-
0028024585
-
The lung-specific surfactant protein B gene promoter is a target for thyroid transcription factor 1 and hepatocyte nuclear factor 3, indicating common factors for organ-specific gene expression along the foregut axis
-
R.J. Bohinski, R. Di Lauro, and J.A. Whitsett The lung-specific surfactant protein B gene promoter is a target for thyroid transcription factor 1 and hepatocyte nuclear factor 3, indicating common factors for organ-specific gene expression along the foregut axis Mol Cell Biol 14 1994 5671 5681
-
(1994)
Mol Cell Biol
, vol.14
, pp. 5671-5681
-
-
Bohinski, R.J.1
Di Lauro, R.2
Whitsett, J.A.3
-
118
-
-
33846834049
-
Transcriptional control of lung morphogenesis
-
Y. Maeda, V. Dave, and J.A. Whitsett Transcriptional control of lung morphogenesis Physiol Rev 87 2007 219 244
-
(2007)
Physiol Rev
, vol.87
, pp. 219-244
-
-
Maeda, Y.1
Dave, V.2
Whitsett, J.A.3
-
119
-
-
66149122629
-
Five new TTF1/NKX2-1 mutations in brain-lung-thyroid syndrome: Rescue by PAX8 synergism in one case
-
A. Carre, G. Szinnai, and M. Castanet et al. Five new TTF1/NKX2-1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case Hum Mol Genet 18 2009 2266
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2266
-
-
Carre, A.1
Szinnai, G.2
Castanet, M.3
-
120
-
-
0036181474
-
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
-
H. Krude, B. Schutz, and H. Bibermann et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency J Clin Invest 109 2002 475 480
-
(2002)
J Clin Invest
, vol.109
, pp. 475-480
-
-
Krude, H.1
Schutz, B.2
Bibermann, H.3
-
121
-
-
12144277942
-
Brain-thyroid-lung syndrome: A patient with a severe multisystem disorder due to a de novo mutation in the thyroid transcription factor 1 gene
-
M.A. Willemsen, G.J. Breedveld, and S. Wouda et al. Brain-thyroid-lung syndrome: a patient with a severe multisystem disorder due to a de novo mutation in the thyroid transcription factor 1 gene Eur J Paediatr 164 2005 28 30
-
(2005)
Eur J Paediatr
, vol.164
, pp. 28-30
-
-
Willemsen, M.A.1
Breedveld, G.J.2
Wouda, S.3
-
122
-
-
36248980204
-
Characterizing the cancer genome in lung adenocarcinoma
-
B.A. Weir, M.S. Woo, and G. Getz et al. Characterizing the cancer genome in lung adenocarcinoma Nature 450 2007 893 898
-
(2007)
Nature
, vol.450
, pp. 893-898
-
-
Weir, B.A.1
Woo, M.S.2
Getz, G.3
-
123
-
-
79955584983
-
Suppression of lung adenocarcinoma progression by NKX2-1
-
M.M. Winslow, T.L. Dayton, and R. Verhaak et al. Suppression of lung adenocarcinoma progression by NKX2-1 Nature 473 2011 101 104
-
(2011)
Nature
, vol.473
, pp. 101-104
-
-
Winslow, M.M.1
Dayton, T.L.2
Verhaak, R.3
-
124
-
-
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
-
D. Gras, L. Jonard, and E. Roze et al. 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 Psychiatr 83 2012 956 962
-
(2012)
J Neurol Neurosurg Psychiatr
, vol.83
, pp. 956-962
-
-
Gras, D.1
Jonard, L.2
Roze, E.3
-
125
-
-
0029669183
-
Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx
-
D. Turbay, S.B. Wechsler, and K.M. Blanchard et al. Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx Mol Med 2 1996 86 96
-
(1996)
Mol Med
, vol.2
, pp. 86-96
-
-
Turbay, D.1
Wechsler, S.B.2
Blanchard, K.M.3
-
126
-
-
33644680809
-
Building the mammalian heart from two sources of myocardial cells
-
M. Buckingham, S. Meilhac, and S. Zaffran Building the mammalian heart from two sources of myocardial cells Nat Rev Genet 6 2005 826 835
-
(2005)
Nat Rev Genet
, vol.6
, pp. 826-835
-
-
Buckingham, M.1
Meilhac, S.2
Zaffran, S.3
-
127
-
-
0032479573
-
Congenital heart disease caused by mutations in the transcription factor NKX2-5
-
J.J. Schott, D.W. Benson, and C.T. Basson et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5 Science 281 1998 108 111
-
(1998)
Science
, vol.281
, pp. 108-111
-
-
Schott, J.J.1
Benson, D.W.2
Basson, C.T.3
-
128
-
-
78049442656
-
NKX2-5: An update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)
-
S.M. Reamon-Buettner, and J. Borlak NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD) Hum Mut 31 2010 1185 1194
-
(2010)
Hum Mut
, vol.31
, pp. 1185-1194
-
-
Reamon-Buettner, S.M.1
Borlak, J.2
-
129
-
-
79960090202
-
Increased risk of non-autoimmune hypothyroidism in young patients with congenital heart defect
-
E. Passeri, M. Frigerio, and T. de Filippis et al. Increased risk of non-autoimmune hypothyroidism in young patients with congenital heart defect J Clin Endocrinol Metab 96 2011 E1115 E1119
-
(2011)
J Clin Endocrinol Metab
, vol.96
-
-
Passeri, E.1
Frigerio, M.2
De Filippis, T.3
-
131
-
-
84871685456
-
The ambiguous role of NKX2-5 mutations in thyroid dysgenesis
-
K. Van Engelen, M.T.M. Mommersteeg, and M.J.H. Baars et al. The ambiguous role of NKX2-5 mutations in thyroid dysgenesis PLoS One 7 2012 e52685
-
(2012)
PLoS One
, vol.7
, pp. 52685
-
-
Van Engelen, K.1
Mommersteeg, M.T.M.2
Baars, M.J.H.3
-
132
-
-
84861194601
-
Multiplex ligation dependent probe amplification improves the detection rate of NKX2-1 mutations in patients affected by brain-lung-thyroid syndrome
-
R. Teissier, L. Guillot, and A. Carré et al. Multiplex ligation dependent probe amplification improves the detection rate of NKX2-1 mutations in patients affected by brain-lung-thyroid syndrome Horm Res Paediatr 77 2012 146 151
-
(2012)
Horm Res Paediatr
, vol.77
, pp. 146-151
-
-
Teissier, R.1
Guillot, L.2
Carré, A.3
-
133
-
-
13544273520
-
Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes
-
M. Castanet, S. Sura-Trueba, and A. Chauty et al. Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes Eur J Hum Genet 13 2005 232 239
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 232-239
-
-
Castanet, M.1
Sura-Trueba, S.2
Chauty, A.3
-
134
-
-
27844536962
-
A mouse model demonstrates a multigenic origin of congenital hypothyroidism
-
E. Amendola, P. De Luca, and P.E. Macchia et al. A mouse model demonstrates a multigenic origin of congenital hypothyroidism Endocrinology 146 2005 5038 5047
-
(2005)
Endocrinology
, vol.146
, pp. 5038-5047
-
-
Amendola, E.1
De Luca, P.2
Macchia, P.E.3
-
135
-
-
79956322556
-
The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: A genotype phenotype mutations
-
C. Sriphrapradang, J. Tenenbaum-Rakover, and M. Weiss et al. The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype phenotype mutations J Clin Endocrinol Metab 96 2011 E1001 E1006
-
(2011)
J Clin Endocrinol Metab
, vol.96
-
-
Sriphrapradang, C.1
Tenenbaum-Rakover, J.2
Weiss, M.3
-
136
-
-
79953250109
-
A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes
-
J. Lado-Abeal, I. Castro-Piedras, and F. Palos-Paz et al. A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes Thyroid 21 2011 103 109
-
(2011)
Thyroid
, vol.21
, pp. 103-109
-
-
Lado-Abeal, J.1
Castro-Piedras, I.2
Palos-Paz, F.3
-
137
-
-
80655134848
-
Molecular basis of thyroid dyshormonogenesis: Genetic screening in population-based Japanese patients
-
S. Narumi, K. Muroya, and Y. Asakura et al. Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients J Clin Endocrinol Metab 2011 E1838 E1842
-
(2011)
J Clin Endocrinol Metab
-
-
Narumi, S.1
Muroya, K.2
Asakura, Y.3
-
138
-
-
84879756120
-
Somatic mutation, genomic variation, and neurological disease
-
A. Poduri, G.D. Evrony, and X. Cai et al. Somatic mutation, genomic variation, and neurological disease Science 341 2013 1237758
-
(2013)
Science
, vol.341
, pp. 1237758
-
-
Poduri, A.1
Evrony, G.D.2
Cai, X.3
-
139
-
-
83555173382
-
Direct mutation analysis by high-throughput sequencing: From germline to low-abundant, somatic variants
-
M. Gundry, and J. Vijg Direct mutation analysis by high-throughput sequencing: from germline to low-abundant, somatic variants Mutat Res 729 2012 1 15
-
(2012)
Mutat Res
, vol.729
, pp. 1-15
-
-
Gundry, M.1
Vijg, J.2
-
140
-
-
36348935021
-
Polymorphic length of FOXE1 alanine stretch: Evidence for genetic susceptibility to thyroid dysgenesis
-
A. Carré, M. Castanet, and S. Sura-Trueba et al. Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis Hum Genet 122 2007 467 476
-
(2007)
Hum Genet
, vol.122
, pp. 467-476
-
-
Carré, A.1
Castanet, M.2
Sura-Trueba, S.3
-
141
-
-
33751329250
-
Global variation in copy number in the human genome
-
R. Redon, S. Ishikawa, and K.R. Fitch et al. Global variation in copy number in the human genome Nature 444 2006 444 454
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
-
142
-
-
56049097929
-
High frequency of submicroscopic genomic aberrations detected by tilling path array comparative genome hybridization in patients with isolated congenital heart disease
-
F. Erdogan, L.A. Larsen, and L. Zhang et al. High frequency of submicroscopic genomic aberrations detected by tilling path array comparative genome hybridization in patients with isolated congenital heart disease J Med Genet 45 2008 704 709
-
(2008)
J Med Genet
, vol.45
, pp. 704-709
-
-
Erdogan, F.1
Larsen, L.A.2
Zhang, L.3
-
143
-
-
77949831756
-
Structural variation in the human genome and its role in disease
-
P. Stankiewicz, and J.R. Lupski Structural variation in the human genome and its role in disease Annu Rev Med 61 2010 437 455
-
(2010)
Annu Rev Med
, vol.61
, pp. 437-455
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
144
-
-
77951700086
-
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs
-
D.F. Conrad, C. Bird, and B. Blackburne et al. Mutation spectrum revealed by breakpoint sequencing of human germline CNVs Nat Genet 42 2010 385 391
-
(2010)
Nat Genet
, vol.42
, pp. 385-391
-
-
Conrad, D.F.1
Bird, C.2
Blackburne, B.3
-
145
-
-
77954944963
-
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis
-
A. Thorwarth, I. Mueller, and H. Biebermann et al. Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis J Clin Endocrinol Metab 95 2010 3446 3452
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 3446-3452
-
-
Thorwarth, A.1
Mueller, I.2
Biebermann, H.3
-
146
-
-
78149433455
-
Transcriptome, methylome and genetic variations analysis of ectopic thyroid glands
-
R. Abu-Khudir, J. Paquette, and A. Lefort et al. Transcriptome, methylome and genetic variations analysis of ectopic thyroid glands PLoS One 5 2010 e13420
-
(2010)
PLoS One
, vol.5
, pp. 13420
-
-
Abu-Khudir, R.1
Paquette, J.2
Lefort, A.3
|