메뉴 건너뛰기




Volumn 28, Issue 2, 2014, Pages 133-150

Genetics of normal and abnormal thyroid development in humans

Author keywords

congenital hypothyroidism; endoderm; epigenetics; Mendelian inheritance; neonatal screening; thyroid development; thyroid dysgenesis; thyroxine

Indexed keywords

ALANINE; THYROID TRANSCRIPTION FACTOR 1; THYROID TRANSCRIPTION FACTOR 2; TRANSCRIPTION FACTOR PAX8;

EID: 84896073133     PISSN: 1521690X     EISSN: 15321908     Source Type: Journal    
DOI: 10.1016/j.beem.2013.08.005     Document Type: Review
Times cited : (70)

References (146)
  • 2
    • 84896088313 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 130
    • 79956331473 scopus 로고    scopus 로고
    • Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis
    • P. Hermanns, H. Grasberger, S. Refetoff, and J. Ohlenz Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis J Clin Endocrinol Metab 96 2011 E977 E981
    • (2011) J Clin Endocrinol Metab , vol.96
    • Hermanns, P.1    Grasberger, H.2    Refetoff, S.3    Ohlenz, J.4
  • 131
    • 84871685456 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.