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Volumn , Issue , 2012, Pages 60-78

Clinical genetics of congenital hypothyroidism

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EID: 84910680242     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1159/000363156     Document Type: Chapter
Times cited : (37)

References (97)
  • 1
    • 84882781704 scopus 로고    scopus 로고
    • Thyroid disorders; in Rimoin DL, Pyeritz RE, Korf B (eds): Emery and Rimoin's Principles and Practice of Medical Genetics, ed 6
    • Polak M, Szinnai G: Thyroid disorders; in Rimoin DL, Pyeritz RE, Korf B (eds): Emery and Rimoin's Principles and Practice of Medical Genetics, ed 6. Philadelphia, Academic Press, 2013, chapt 84, pp 1-24.
    • (2013) Philadelphia, Academic Press, chapt , vol.84 , pp. 1-24
    • Polak, M.1    Szinnai, G.2
  • 3
    • 84896088313 scopus 로고    scopus 로고
    • Hypothyroidism in infants and children: congenital hypothyroidism; in Braver-man LE, Cooper D (eds): Werner and Ingbar's the Thyroid: A Fundamental and Clinical Text, ed 10
    • Van Vliet G, Deladoëy J: Hypothyroidism in infants and children: congenital hypothyroidism; in Braver- man LE, Cooper D (eds): Werner and Ingbar's the Thyroid: A Fundamental and Clinical Text, ed 10. Philadelphia, Lippincott, Williams & Wilkins, 2012, pp 790-802
    • (2012) Philadelphia, Lippincott, Williams & Wilkins, pp , pp. 790-802
    • Van Vliet, G.1    Deladoëy, J.2
  • 5
    • 5444271023 scopus 로고    scopus 로고
    • Thyroid development and its disorders: genetics and molecular mechanisms
    • De Felice M, Di Lauro R: Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 2004;25:722-746.
    • (2004) Endocr Rev ; , vol.25 , pp. 722-746
    • De Felice, M.1    Di Lauro, R.2
  • 6
    • 84888805501 scopus 로고    scopus 로고
    • Mechanisms of thyroid de-velopment and dysgenesis: an analysis based on de-velopmental stages and concurrent embryonic anat-omy
    • Nilsson M, Fagman H: Mechanisms of thyroid de- velopment and dysgenesis: an analysis based on de- velopmental stages and concurrent embryonic anat- omy. Curr Top Dev Biol 2013;106:123-170.
    • (2013) Curr Top Dev Biol ; , vol.106 , pp. 123-170
    • Nilsson, M.1    Fagman, H.2
  • 7
    • 84896073133 scopus 로고    scopus 로고
    • Genetics of normal and abnormal thyroid development in humans
    • Szinnai G: Genetics of normal and abnormal thyroid development in humans. Best Pract Res Clin Endo- crinol Metab 2014;28:133-150.
    • (2014) Best Pract Res Clin Endo-crinol Metab ; , vol.28 , pp. 133-150
    • Szinnai, G.1
  • 8
    • 0020647088 scopus 로고
    • Plasma thyroglobulin measurements help deter-mine the type of thyroid defect in congenital hypo-thyroidism
    • Czernichow P, Schlumberger M, Pomarede R, Fragu P: Plasma thyroglobulin measurements help deter- mine the type of thyroid defect in congenital hypo- thyroidism. J Clin Endocrinol Metab 1983;56:242- 245
    • (1983) J Clin Endocrinol Metab ; , vol.56 , pp. 242- 245
    • Czernichow, P.1    Schlumberger, M.2    Pomarede, R.3    Fragu, P.4
  • 9
    • 0031755047 scopus 로고    scopus 로고
    • Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin re-ceptor gene: are athyreosis and ectopic thyroid dis-tinct entities?
    • Gagné N, Parma J, Deal C, Vassart G, Van Vliet G: Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin re- ceptor gene: are athyreosis and ectopic thyroid dis- tinct entities? J Clin Endocrinol Metab 1998;83: 1771-1775.
    • (1998) J Clin Endocrinol Metab ; , vol.83 , pp. 1771-1775
    • Gagné, N.1    Parma, J.2    Deal, C.3    Vassart, G.4    Van Vliet, G.5
  • 12
    • 84861960179 scopus 로고    scopus 로고
    • A high prevalence of dual thyroid ectopy in congenital hypothyroidism: evidence for insufficient signaling gradients during embryonic thyroid migration or for the polyclonal nature of the thyroid gland?
    • Wildi-Runge S, Stoppa-Vaucher S, Lambert R, Tur- pin S, Van Vliet G, Deladoëy J: A high prevalence of dual thyroid ectopy in congenital hypothyroidism: evidence for insufficient signaling gradients during embryonic thyroid migration or for the polyclonal nature of the thyroid gland? J Clin Endocrinol Metab 2012;97:E978-E981
    • (2012) J Clin Endocrinol Metab ; , vol.97 , pp. E978-E981
    • Wildi-Runge, S.1    Stoppa-Vaucher, S.2    Lambert, R.3    Tur-pin, S.4    Van Vliet, G.5    Deladoëy, J.6
  • 13
  • 15
    • 0033306083 scopus 로고    scopus 로고
    • A search for the possible molecular mecha-nisms of thyroid dysgenesis: sex ratios and associat-ed malformations
    • Devos H, Rodd C, Gagne N, Laframboise R, Van Vliet G: A search for the possible molecular mecha- nisms of thyroid dysgenesis: sex ratios and associat- ed malformations. J Clin Endocrinol Metab 1999;84: 2502-2506.
    • (1999) J Clin Endocrinol Metab ; , vol.84 , pp. 2502-2506
    • Devos, H.1    Rodd, C.2    Gagne, N.3    Laframboise, R.4    Van Vliet, G.5
  • 17
    • 0034999523 scopus 로고    scopus 로고
    • Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involve-ment of genetic factors
    • Castanet M, Polak M, Bonaïti-Pellié C, Lyonnet S, Czernichow P, Léger J: Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involve- ment of genetic factors. J Clin Endocrinol Metab 2001;86:2009-2014.
    • (2001) J Clin Endocrinol Metab ; , vol.86 , pp. 2009-2014
    • Castanet, M.1    Polak, M.2    Bonaïti-Pellié, C.3    Lyonnet, S.4    Czernichow, P.5    Léger, J.6
  • 19
    • 0025084237 scopus 로고
    • Pax8, a murine paired box gene expressed in the developing excretory system and the thyroid gland
    • Plachov D, Chouwhury K, Walther C, Simon D, Guenet JL, Gruss P: Pax8, a murine paired box gene expressed in the developing excretory system and the thyroid gland. Development 1990;110:643-651.
    • (1990) Development ; , vol.110 , pp. 643-651
    • Plachov, D.1    Chouwhury, K.2    Walther, C.3    Simon, D.4    Guenet, J.L.5    Gruss, P.6
  • 20
    • 0031777309 scopus 로고    scopus 로고
    • Gruss P: Follicular cells of the thyroid gland require Pax8 gene function
    • Mansouri A, Chouwhury K, Gruss P: Follicular cells of the thyroid gland require Pax8 gene function. Nat Genet 1998;19:87-90.
    • (1998) Nat Genet , vol.19 , pp. 87-90
    • Mansouri, A.1    Chouwhury, K.2
  • 27
    • 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
    • Lazzaro D, Price M, De Felice M, Di Lauro R: The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain. Development 1991;113: 1093-1104.
    • (1991) Development ; , vol.113 , pp. 1093-1104
    • Lazzaro, D.1    Price, M.2    De Felice, M.3    Di Lauro, R.4
  • 28
    • 0030057596 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
    • Kimura S, Hara Y, Pineau T, Fernandez-Salguero P, Fox CH, Ward JM, Gonzalez FJ: The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. Genes Dev 1996;10: 60-69.
    • (1996) Genes Dev ; , vol.10 , pp. 60-69
    • Kimura, S.1    Hara, Y.2    Pineau, T.3    Fernandez-Salguero, P.4    Fox, C.H.5    Ward, J.M.6    Gonzalez, F.J.7
  • 29
    • 33746607692 scopus 로고    scopus 로고
    • Thyroid-specific enhancer-bind-ing protein/NKX2.1 is required for the maintenance of ordered architecture and function of the differen-tiated thyroid
    • Kusakabe T, Kawaguchi A, Hoshi N, Kawaguchi R, Hoshi S, Kimura S: Thyroid-specific enhancer-bind- ing protein/NKX2.1 is required for the maintenance of ordered architecture and function of the differen- tiated thyroid. Mol Endocrinol 2006;20:1796-1809.
    • (2006) Mol Endocrinol ; , vol.20 , pp. 1796-1809
    • Kusakabe, T.1    Kawaguchi, A.2    Hoshi, N.3    Kawaguchi, R.4    Hoshi, S.5    Kimura, S.6
  • 31
    • 0032580483 scopus 로고    scopus 로고
    • Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respi-ratory failure
    • Devriendt K, Vanhole C, Matthijs G, de Zegher F: Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respi- ratory failure. N Engl J Med 1998;338:1317-1318.
    • (1998) N Engl J Med ; , vol.338 , pp. 1317-1318
    • Devriendt, K.1    Vanhole, C.2    Matthijs, G.3    de Zegher, F.4
  • 36
    • 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 on-set of differentiation
    • Zannini M, Avantaggiato V, Biffali E, Arnone M, Sato K, Pischetola M, Taylor BA, Phillips SJ, Simeone A, Di Lauro R: TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the on- set of differentiation. EMBO J 1997;16:3185-3197.
    • (1997) EMBO J ; , vol.16 , pp. 3185-3197
    • Zannini, M.1    Avantaggiato, V.2    Biffali, E.3    Arnone, M.4    Sato, K.5    Pischetola, M.6    Taylor, B.A.7    Phillips, S.J.8    Simeone, A.9    Di Lauro, R.10
  • 42
    • 78049442656 scopus 로고    scopus 로고
    • NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)
    • Reamon-Buettner SM, Borlak J: NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD). Hum Mutat 2010;31:1185-1194.
    • (2010) Hum Mutat ; , vol.31 , pp. 1185-1194
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 45
    • 84871685456 scopus 로고    scopus 로고
    • The am-biguous role of NKX2-5 mutations in thyroid dys-genesis
    • Mulder BJ, Postma AV. The am- biguous role of NKX2-5 mutations in thyroid dys- genesis. PLoS One 2012;7:e52685.
    • (2012) PLoS One ; , vol.7 , pp. e52685
    • Mulder, B.J.1    Postma, AV2
  • 46
    • 84886293598 scopus 로고    scopus 로고
    • Novel insights on thyroid-stimulating hor-mone receptor signal transduction
    • Kleinau G, Neumann S, Grüters A, Krude H, Bieber- mann H: Novel insights on thyroid-stimulating hor- mone receptor signal transduction. Endocr Rev 2013;34:691-724.
    • (2013) Endocr Rev ; , vol.34 , pp. 691-724
    • Kleinau, G.1    Neumann, S.2    Grüters, A.3    Krude, H.4    Bieber-mann, H.5
  • 49
    • 65249173572 scopus 로고    scopus 로고
    • Nonclassical TSH mutations as a cause of congenital hypothyroidism in Japan: population based genetic epidemiology study
    • Narumi S, Muroya K, Abe Y, Yasui M, Asakura Y, Adachi M, Hasegawa T: Nonclassical TSH mutations as a cause of congenital hypothyroidism in Japan: population based genetic epidemiology study. J Clin Endocrinol Metab 2009;94:1317-1323.
    • (2009) J Clin Endocrinol Metab ; , vol.94 , pp. 1317-1323
    • Narumi, S.1    Muroya, K.2    Abe, Y.3    Yasui, M.4    Asakura, Y.5    Adachi, M.6    Hasegawa, T.7
  • 53
    • 0036333792 scopus 로고    scopus 로고
    • Eay1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid
    • Xu PX, Zheng W, Leclef C, Maire P, Maas RL, Peters H, Xu X: Eay1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid. De- velopment 2002;129:3033-3044.
    • (2002) De-velopment ; , vol.129 , pp. 3033-3044
    • Xu, P.X.1    Zheng, W.2    Leclef, C.3    Maire, P.4    Maas, R.L.5    Peters, H.6    Xu, X.7
  • 55
    • 0029030722 scopus 로고
    • The role of Hoxa-3 in mouse thymus and thyroid development
    • Manley NR, Capecchi MR: The role of Hoxa-3 in mouse thymus and thyroid development. Develop- ment 1995;121:1989-2993.
    • (1995) Develop-ment ; , vol.121 , pp. 1989-2993
    • Manley, N.R.1    Capecchi, M.R.2
  • 56
    • 0032030895 scopus 로고    scopus 로고
    • Hox group 3 paralogs regulate the development and migration of the thy-mus, the thyroid, and parathyroid glands
    • Manley NR, Capecchi MR: Hox group 3 paralogs regulate the development and migration of the thy- mus, the thyroid, and parathyroid glands. Dev Biol 1998;195:1-15.
    • (1998) Dev Biol ; , vol.195 , pp. 1-15
    • Manley, N.R.1    Capecchi, M.R.2
  • 57
    • 57149109344 scopus 로고    scopus 로고
    • Expression of Islet1 in thy-roid development related to budding, migration, and fusion of primordial
    • Westerlund J, Andersson L, Carlsson T, Zoppoli P, Fagman H, Nilsson M: Expression of Islet1 in thy- roid development related to budding, migration, and fusion of primordial. Dev Dyn 2008;237:3820-3829.
    • (2008) Dev Dyn ; , vol.237 , pp. 3820-3829
    • Westerlund, J.1    Andersson, L.2    Carlsson, T.3    Zoppoli, P.4    Fagman, H.5    Nilsson, M.6
  • 58
    • 1942533388 scopus 로고    scopus 로고
    • Genetic deletion of sonic hedgehog causes hemia-genesis and ectopic development of the thyroid in the mouse
    • Fagman H, Grande M, Gritli-Linde A, Nilsson M: Genetic deletion of sonic hedgehog causes hemia- genesis and ectopic development of the thyroid in the mouse. Am J Pathol 2004;164:1865-1872.
    • (2004) Am J Pathol ; , vol.164 , pp. 1865-1872
    • Fagman, H.1    Grande, M.2    Gritli-Linde, A.3    Nilsson, M.4
  • 60
    • 77951626837 scopus 로고    scopus 로고
    • Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population based cohort of Japanese patients
    • Narumi S, Muroya K, Asakura Y, Adachi M, Hasega- wa T: Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population based cohort of Japanese patients. J Clin Endocrinol Metab 2010;95:1981-1985.
    • (2010) J Clin Endocrinol Metab ; , vol.95 , pp. 1981-1985
    • Narumi, S.1    Muroya, K.2    Asakura, Y.3    Adachi, M.4    Hasega-wa, T.5
  • 61
    • 80655134848 scopus 로고    scopus 로고
    • Molecular basis of thyroid dyshormonogene-sis: genetic screening in population-based Japanese patients
    • Narumi S, Muroya K, Asakura Y, Aachi M, Hasega- wa T: Molecular basis of thyroid dyshormonogene- sis: genetic screening in population-based Japanese patients. J Clin Endocrinol Metab 2011;96:E1838- E1842.
    • (2011) J Clin Endocrinol Metab ; , vol.96 , pp. E1838- E1842
    • Narumi, S.1    Muroya, K.2    Asakura, Y.3    Aachi, M.4    Hasega-wa, T.5
  • 64
    • 77954944963 scopus 로고    scopus 로고
    • Screening chro-mosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypo-thyroidism and thyroid dysgenesis
    • Thorwarth A, Mueller I, Biebermann H, Ropers HH, Grueters A, Krude H, Ullmann R: Screening chro- mosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypo- thyroidism and thyroid dysgenesis. J Clin Endocri- nol Metab 2010;95:3446-3452
    • (2010) J Clin Endocri-nol Metab ; , vol.95 , pp. 3446-3452
    • Thorwarth, A.1    Mueller, I.2    Biebermann, H.3    Ropers, H.H.4    Grueters, A.5    Krude, H.6    Ullmann, R.7
  • 65
    • 27844552888 scopus 로고    scopus 로고
    • Thyroid dysgenesis multi-genic or epigenetic...or both?
    • Vassart G, Dumont JE: Thyroid dysgenesis multi- genic or epigenetic...or both? Endocrinology 2005; 146:5035-5037.
    • (2005) Endocrinology ; , vol.146 , pp. 5035-5037
    • Vassart, G.1    Dumont, J.E.2
  • 67
    • 0041328169 scopus 로고    scopus 로고
    • An outline of inherited disorders of the thyroid hormone generating system
    • Knobel M, Medeires-Neto G: An outline of inherited disorders of the thyroid hormone generating system. Thyroid 2003;13:771-801.
    • (2003) Thyroid ; , vol.13 , pp. 771-801
    • Knobel, M.1    Medeires-Neto, G.2
  • 71
    • 0000387027 scopus 로고
    • Congenital hypothy-roidism with goitre: absence of an iodide-concen-trating mechanism
    • Stanbury JB, Chapman EM: Congenital hypothy- roidism with goitre: absence of an iodide-concen- trating mechanism. Lancet 1960;i:1162.
    • (1960) Lancet ;i , pp. 1162
    • Stanbury, J.B.1    Chapman, E.M.2
  • 73
    • 33646063580 scopus 로고    scopus 로고
    • Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide sym-porter gene and review of genotype-phenotype cor-relations in ITD
    • Szinnai G, Kosugi S, Derrien C, Lucidarme N, David V, Czernichow P, Polak M: Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide sym- porter gene and review of genotype-phenotype cor- relations in ITD. J Clin Endocrinol Metab 2006;91: 1199-1204.
    • (2006) J Clin Endocrinol Metab ; , vol.91 , pp. 1199-1204
    • Szinnai, G.1    Kosugi, S.2    Derrien, C.3    Lucidarme, N.4    David, V.5    Czernichow, P.6    Polak, M.7
  • 76
    • 77952879486 scopus 로고    scopus 로고
    • Genetics and phenomics of Pendred syndrome
    • Bizhanova A, Kopp P: Genetics and phenomics of Pendred syndrome. Mol Cell Endocrinol 2010;322: 83-90.
    • (2010) Mol Cell Endocrinol ; , vol.322 , pp. 83-90
    • Bizhanova, A.1    Kopp, P.2
  • 77
    • 84898466838 scopus 로고    scopus 로고
    • Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct
    • Ladsous M, Vlaeminck-Guillem V, Dumur V, Vin- cent C, Dubrulle F, Dhaenens CM, Wémeau JL: Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. Thyroid 2014;24:639- 648.
    • (2014) Thyroid ; , vol.24 , pp. 639- 648
    • Ladsous, M.1    Vlaeminck-Guillem, V.2    Dumur, V.3    Vin-cent, C.4    Dubrulle, F.5    Dhaenens, C.M.6    Wémeau, J.L.7
  • 79
    • 77952876664 scopus 로고    scopus 로고
    • Genetics and phenomics of hypothyroidism and goiter due to TPO mutations
    • Ris-Stalpers C, Bikker H: Genetics and phenomics of hypothyroidism and goiter due to TPO mutations. Mol Cell Endocrinol 2010;322:38-43.
    • (2010) Mol Cell Endocrinol ; , vol.322 , pp. 38-43
    • Ris-Stalpers, C.1    Bikker, H.2
  • 81
    • 0033756917 scopus 로고    scopus 로고
    • Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defects (an update)
    • Bakker B, Bikker H, Vulsma T, de Randamie JSE, Wiedijk BM, De Vijlder JJM: Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defects (an update). J Clin Endori- nol Metab 2000;85:3708-3712.
    • (2000) J Clin Endori-nol Metab ; , vol.85 , pp. 3708-3712
    • Bakker, B.1    Bikker, H.2    Vulsma, T.3    de Randamie, J.S.E.4    Wiedijk, B.M.5    De Vijlder, J.J.M.6
  • 82
    • 0347993689 scopus 로고    scopus 로고
    • Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect
    • Nascimento AC, Guedes DR, Santos CS, Knobel M, Rubio IG, Medeiros-Neto G: Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect. Thyroid 2003;13:1145-1151.
    • (2003) Thyroid ; , vol.13 , pp. 1145-1151
    • Nascimento, A.C.1    Guedes, D.R.2    Santos, C.S.3    Knobel, M.4    Rubio, I.G.5    Medeiros-Neto, G.6
  • 85
    • 57349176149 scopus 로고    scopus 로고
    • Transient congenital hypothyroidism caused by bi-allelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program
    • Maruo Y, Takahashi H, Soeda I, Nishikura N, Matsui K, Ota Y, Mimura Y, Mori A, Sato H, Takeuchi Y: Transient congenital hypothyroidism caused by bi- allelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. J Clin Endocrinol Metab 2008;93:4261- 4267.
    • (2008) J Clin Endocrinol Metab ; , vol.93 , pp. 4261- 4267
    • Maruo, Y.1    Takahashi, H.2    Soeda, I.3    Nishikura, N.4    Matsui, K.5    Ota, Y.6    Mimura, Y.7    Mori, A.8    Sato, H.9    Takeuchi, Y.10
  • 86
    • 77950386307 scopus 로고    scopus 로고
    • Compound heterozygosity for a novel hemizy-gous missense mutation and a partial deletion affect-ing the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypo-thyroidism
    • Hoste C, Rigutto S, Van Vliet G, Miot F, De Deken X: Compound heterozygosity for a novel hemizy- gous missense mutation and a partial deletion affect- ing the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypo- thyroidism. Hum Mutat 2010;31:E1304-E1319.
    • (2010) Hum Mutat ; , vol.31 , pp. 1304-1319
    • Hoste, C.1    Rigutto, S.2    Van Vliet, G.3    Miot, F.4    De Deken, X.5
  • 89
    • 77952876312 scopus 로고    scopus 로고
    • Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
    • Targovnik HM, Esperante SA, Rivolta CM: Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations. Mol Cell Endocrinol 2010; 322:44-55.
    • (2010) Mol Cell Endocrinol ; , vol.322 , pp. 44-55
    • Targovnik, H.M.1    Esperante, S.A.2    Rivolta, C.M.3
  • 90
    • 0026334976 scopus 로고
    • A 3'-splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism
    • Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shi- moda S, Perret J, Vassart G: A 3'-splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. J Clin Invest 1991;88: 1901-1905.
    • (1991) J Clin Invest ; , vol.88 , pp. 1901-1905
    • Ieiri, T.1    Cochaux, P.2    Targovnik, H.M.3    Suzuki, M.4    Shi-moda, S.5    Perret, J.6    Vassart, G.7
  • 91
    • 0030481624 scopus 로고    scopus 로고
    • Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones
    • Medeiros-Neto G, Kim PS, Yoo SE, Vono J, Targov- nik H, Camargo R, Hossain SA, Arvan P: Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones. J Clin Invest 1996;98:2838-2844.
    • (1996) J Clin Invest ; , vol.98 , pp. 2838-2844
    • Medeiros-Neto, G.1    Kim, P.S.2    Yoo, S.E.3    Vono, J.4    Targov-nik, H.5    Camargo, R.6    Hossain, S.A.7    Arvan, P.8
  • 96
    • 84893811033 scopus 로고    scopus 로고
    • European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism
    • Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G; ESPE- PES-SLEP-JSPE-APEG-APPES-ISPAE; Congenital Hypothyroidism Consensus Conference Group: European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab 2014;99:363-384.
    • (2014) J Clin Endocrinol Metab ; , vol.99 , pp. 363-384
    • Léger, J.1    Olivieri, A.2    Donaldson, M.3    Torresani, T.4    Krude, H.5    van Vliet, G.6    Polak, M.7    Butler, G.8
  • 97
    • 84897032935 scopus 로고    scopus 로고
    • European Society for Paediatric Endocrinology Consensus Guidelines on screening, diagnosis, and manage-ment of congenital hypothyroidism
    • Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G: European Society for Paediatric Endocrinology Consensus Guidelines on screening, diagnosis, and manage- ment of congenital hypothyroidism. Horm Res Paed 2014;81:80-103.
    • (2014) Horm Res Paed ; , vol.81 , pp. 80-103
    • Léger, J.1    Olivieri, A.2    Donaldson, M.3    Torresani, T.4    Krude, H.5    van Vliet, G.6    Polak, M.7    Butler, G.8


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