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Volumn 42, Issue 5, 2005, Pages 379-389

Genetics of congenital hypothyroidism

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; IODINE 125; IODOTHYRONINE TRANSPORTER; LIOTHYRONINE; OXIDOREDUCTASE; PENDRIN; RADIOACTIVE IODINE; SODIUM IODIDE I 125; SODIUM IODIDE I 131; SODIUM IODIDE SYMPORTER; TECHNETIUM; THYROGLOBULIN; THYROID OXIDASE 2; THYROID PEROXIDASE; THYROID TRANSCRIPTION FACTOR 1; THYROID TRANSCRIPTION FACTOR 2; THYROTROPIN RECEPTOR; THYROXINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PAX8; UNCLASSIFIED DRUG;

EID: 18844400822     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.024158     Document Type: Review
Times cited : (328)

References (135)
  • 1
    • 0026968920 scopus 로고
    • Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts of the world
    • Toublanc J. Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts of the world. Horm Res (Basel) 1992;38:230-5.
    • (1992) Horm Res (Basel) , vol.38 , pp. 230-235
    • Toublanc, J.1
  • 2
    • 0026500731 scopus 로고
    • Congenital hypothyroidism detected by neonatal screening: Relationship between biochemical severity and early clinical features
    • Grant DB, Smith I, Fuggle PW, Tokar S, Chapple J. Congenital hypothyroidism detected by neonatal screening: relationship between biochemical severity and early clinical features. Arch Dis Child 1992;67:87-90.
    • (1992) Arch Dis Child , vol.67 , pp. 87-90
    • Grant, D.B.1    Smith, I.2    Fuggle, P.W.3    Tokar, S.4    Chapple, J.5
  • 4
    • 0012946473 scopus 로고    scopus 로고
    • Normal development of the hypothalamic-pituitary-thyroid axis
    • Braverman LE, Utiger RD, eds. Philadelphia: Lippincott-Raven
    • Pintar JE. Normal development of the hypothalamic-pituitary-thyroid axis. In: Braverman LE, Utiger RD, eds. Werner and Ingbor's the thyroid, 7th ed. Philadelphia: Lippincott-Raven, 1996:6-18.
    • (1996) Werner and Ingbor's the Thyroid, 7th Ed. , pp. 6-18
    • Pintar, J.E.1
  • 5
    • 0024416881 scopus 로고
    • The ultimobranchial gland and congenital thyroid abnormalities in man
    • Williams E, Toyn C, Harach H. The ultimobranchial gland and congenital thyroid abnormalities in man. J Pathol 1989;159:135-41.
    • (1989) J Pathol , vol.159 , pp. 135-141
    • Williams, E.1    Toyn, C.2    Harach, H.3
  • 7
    • 4243383992 scopus 로고
    • Hypothyroidism in infants and children
    • Braverman LE, Utiger RD, eds. Philadelphia: Lippincott-Raven
    • Klein RZ, Mitchell ML. Hypothyroidism in infants and children. In: Braverman LE, Utiger RD, eds. Werner and Ingbar's the thyroid, 7th ed. Philadelphia: Lippincott-Raven, 1990:984-1008.
    • (1990) Werner and Ingbar's the Thyroid, 7th Ed. , pp. 984-1008
    • Klein, R.Z.1    Mitchell, M.L.2
  • 8
    • 0034999523 scopus 로고    scopus 로고
    • Nineteen years of national screening for congenital hypothyroidism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors
    • Castanet M, Polak M, Bonaiti-Pellie C, Lyonnet S, Czernickow P, Leger J. Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 2001;86:2009-14.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 2009-2014
    • Castanet, M.1    Polak, M.2    Bonaiti-Pellie, C.3    Lyonnet, S.4    Czernickow, P.5    Leger, J.6
  • 9
    • 0023910764 scopus 로고
    • Survey of neonatal screening for primary hypothyroidism in England, Wales, and Northern Ireland 1982-4
    • Grant DB, Smith I. Survey of neonatal screening for primary hypothyroidism in England, Wales, and Northern Ireland 1982-4. BJM 1988;296:1355-8.
    • (1988) BJM , vol.296 , pp. 1355-1358
    • Grant, D.B.1    Smith, I.2
  • 10
    • 0031933641 scopus 로고
    • Congenital hypothyroidism in Wales (1982-1993): Demographic features, clinical presentation and effects on early neurodevelopment
    • Law WY, Bradley DM, Lazarus JH, John R, Gregory JW. Congenital hypothyroidism in Wales (1982-1993): demographic features, clinical presentation and effects on early neurodevelopment. Clin Endocrinol (Oxf) 1988;48:201-7.
    • (1988) Clin Endocrinol (Oxf) , vol.48 , pp. 201-207
    • Law, W.Y.1    Bradley, D.M.2    Lazarus, J.H.3    John, R.4    Gregory, J.W.5
  • 12
    • 0026743033 scopus 로고
    • The thyrotropin receptor and the regulation of thyrocyte function and growth
    • Vassart G, Dumont JE. The thyrotropin receptor and the regulation of thyrocyte function and growth. Endocrinol Rev 1992;13:596-611.
    • (1992) Endocrinol Rev , vol.13 , pp. 596-611
    • Vassart, G.1    Dumont, J.E.2
  • 13
    • 0025248383 scopus 로고
    • Localisation of human thyrotropin receptor gene to chromosome region 14q31 by in situ hybridization
    • Libert F, Passage E, Lefort A, Vassar G, Mattei MG. Localisation of human thyrotropin receptor gene to chromosome region 14q31 by in situ hybridization. Cytogenet Cell Genet 1990;54:82-3.
    • (1990) Cytogenet Cell Genet , vol.54 , pp. 82-83
    • Libert, F.1    Passage, E.2    Lefort, A.3    Vassar, G.4    Mattei, M.G.5
  • 14
  • 18
    • 1842579535 scopus 로고    scopus 로고
    • Potent thyrotrophin receptor-blocking antibodies: A cause of transient congenital hypothyroidism and delayed thyroid development
    • Evans C, Jordan NJ, Owens G, Bradley D, Ludgate M, John R. Potent thyrotrophin receptor-blocking antibodies: a cause of transient congenital hypothyroidism and delayed thyroid development. Eur J Endocrinol 2004;150:265-8.
    • (2004) Eur J Endocrinol , vol.150 , pp. 265-268
    • Evans, C.1    Jordan, N.J.2    Owens, G.3    Bradley, D.4    Ludgate, M.5    John, R.6
  • 19
  • 22
    • 0030983833 scopus 로고    scopus 로고
    • Mutations in the numan thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism
    • Biebermann H, Schoneberg T, Krude H, Schuktz G, Gudermann T, Gruters A. Mutations in the numan thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metabol 1997;82:3471-80.
    • (1997) J Clin Endocrinol Metabol , vol.82 , pp. 3471-3480
    • Biebermann, H.1    Schoneberg, T.2    Krude, H.3    Schuktz, G.4    Gudermann, T.5    Gruters, A.6
  • 23
    • 0030994365 scopus 로고    scopus 로고
    • Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
    • Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrich C. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 1997;99:3018-24.
    • (1997) J Clin Invest , vol.99 , pp. 3018-3024
    • Abramowicz, M.J.1    Duprez, L.2    Parma, J.3    Vassart, G.4    Heinrich, C.5
  • 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?
    • Gagne 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 receptor gene: are athyreosis and ectopic thyroid distinct entities? J Clin Endocrinol Metabol 1998;83:1771-5.
    • (1998) J Clin Endocrinol Metabol , vol.83 , pp. 1771-1775
    • Gagne, N.1    Parma, J.2    Deal, C.3    Vassart, G.4    Van Vliet, G.5
  • 26
    • 0034454929 scopus 로고    scopus 로고
    • Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: Evidence for a new inactivating mutation of the TSH receptor gene
    • Tonacchera M, Agretti P, Pinchera A, Rosellini V, Perri, A, Collecchi P, Vitti P, Chiovato L. Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene. J Clin Endocrinol Metab 2000;85:1001-8.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 1001-1008
    • Tonacchera, M.1    Agretti, P.2    Pinchera, A.3    Rosellini, V.4    Perri, A.5    Collecchi, P.6    Vitti, P.7    Chiovato, L.8
  • 27
    • 0034527615 scopus 로고    scopus 로고
    • A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH
    • Russo D, Betterle C, Arturi F, Chiefari E, Girelli ME, Filetti S. A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH. J Clin Endocrinol Metab 2000;85:4238-42.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 4238-4242
    • Russo, D.1    Betterle, C.2    Arturi, F.3    Chiefari, E.4    Girelli, M.E.5    Filetti, S.6
  • 28
    • 0034751909 scopus 로고    scopus 로고
    • A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene
    • Bretones P, Duprez L, Parma J, David M, Vassart G, Rodien P. A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene. Thyroid 2001;11:997-8.
    • (2001) Thyroid , vol.11 , pp. 997-998
    • Bretones, P.1    Duprez, L.2    Parma, J.3    David, M.4    Vassart, G.5    Rodien, P.6
  • 29
    • 0034948831 scopus 로고    scopus 로고
    • Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin
    • Nagashima T, Murakami M, Onigata K, Morimura T, Nagashima K, Mori M, Morikawa A. Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin. Thyroid 2001;11:551-9.
    • (2001) Thyroid , vol.11 , pp. 551-559
    • Nagashima, T.1    Murakami, M.2    Onigata, K.3    Morimura, T.4    Nagashima, K.5    Mori, M.6    Morikawa, A.7
  • 32
    • 1042288131 scopus 로고    scopus 로고
    • Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor
    • Park SM, Clifton-Bligh RJ, Betts P, Chatterjee VK. Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. Clin Endocrinol (Oxf) 2004;60:220-7.
    • (2004) Clin Endocrinol (Oxf) , vol.60 , pp. 220-227
    • Park, S.M.1    Clifton-Bligh, R.J.2    Betts, P.3    Chatterjee, V.K.4
  • 35
    • 0037341985 scopus 로고    scopus 로고
    • The W546X mutation of the thyrotropin receptor gene: Potential major contributor to thyroid dysfunction in a Caucasian population
    • Jordan N, Williams N, Gregory JW, Evans C, Owen M, Ludgate M. The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population. J Clin Endocrinol Metab 2003;88:1002-5.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 1002-1005
    • Jordan, N.1    Williams, N.2    Gregory, J.W.3    Evans, C.4    Owen, M.5    Ludgate, M.6
  • 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 onset of differentiation
    • Zannini M, Avantaggiato V, Biffali E, Arnone MI, 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 onset of differentiation. EMBO J 1997;16:3185-97.
    • (1997) EMBO J , vol.16 , pp. 3185-3197
    • Zannini, M.1    Avantaggiato, V.2    Biffali, E.3    Arnone, M.I.4    Sato, K.5    Pischetola, M.6    Taylor, B.A.7    Phillips, S.J.8    Simeone, A.9    Di Lauro, R.10
  • 37
    • 17744390886 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 [erratum]
    • Zannini M, Avantaggiato V, Biffali E, Arnone MI, 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 onset of differentiation [erratum]. EMBO J 2001;20:2108.
    • (2001) EMBO J , vol.20 , pp. 2108
    • Zannini, M.1    Avantaggiato, V.2    Biffali, E.3    Arnone, M.I.4    Sato, K.5    Pischetola, M.6    Taylor, B.A.7    Phillips, S.J.8    Simeone, A.9    Di Lauro, R.10
  • 41
    • 0036022315 scopus 로고    scopus 로고
    • Distribution of the titf2/foxe1 gene product is consistent with an important role in the development of foregut endoderm, palate, and hair
    • Dathan N, Parlato R, Rosica A, De Felice M, Di Lauro R. Distribution of the titf2/foxe1 gene product is consistent with an important role in the development of foregut endoderm, palate, and hair. Dev Dyn 2002;224:450-6.
    • (2002) Dev Dyn , vol.224 , pp. 450-456
    • Dathan, N.1    Parlato, R.2    Rosica, A.3    De Felice, M.4    Di Lauro, R.5
  • 42
    • 0242331182 scopus 로고    scopus 로고
    • Production and application of polyclonal antibody to human thyroid transcription factor 2 reveals thyroid transcription factor 2 protein expression in adult thyroid and hair follicles and prepubertal testis
    • Sequeira M, Al-Khafaji F, Park S, Lewis MD, Wheeler MH, Chatterjee VK, Jasani B, Ludgate M. Production and application of polyclonal antibody to human thyroid transcription factor 2 reveals thyroid transcription factor 2 protein expression in adult thyroid and hair follicles and prepubertal testis. Thyroid 2003;13:927-32.
    • (2003) Thyroid , vol.13 , pp. 927-932
    • Sequeira, M.1    Al-Khafaji, F.2    Park, S.3    Lewis, M.D.4    Wheeler, M.H.5    Chatterjee, V.K.6    Jasani, B.7    Ludgate, M.8
  • 45
    • 0030587603 scopus 로고    scopus 로고
    • NK-2 homeobox genes and heart development
    • Harvey RP. NK-2 homeobox genes and heart development. Dev Biol 1996;187:203-16.
    • (1996) Dev Biol , vol.187 , pp. 203-216
    • Harvey, R.P.1
  • 47
    • 0028786558 scopus 로고
    • Redundant domains contribute to the transcriptional activity of thyroid transcription factor 1
    • De Felice M, Damante G, Zannini M, Francis-Lang H, Di Lauro R. Redundant domains contribute to the transcriptional activity of thyroid transcription factor 1. J Biol Chem 1995;270:26649-56.
    • (1995) J Biol Chem , vol.270 , pp. 26649-26656
    • De Felice, M.1    Damante, G.2    Zannini, M.3    Francis-Lang, H.4    Di Lauro, R.5
  • 48
    • 0025010740 scopus 로고
    • Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity
    • Guazzi S, Price M, De Felice M, Damante G, Mattei MG, Di Lauro R. Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity. EMBO J 1990;9:3631-9.
    • (1990) EMBO J , vol.9 , pp. 3631-3639
    • Guazzi, S.1    Price, M.2    De Felice, M.3    Damante, G.4    Mattei, M.G.5    Di Lauro, R.6
  • 49
    • 0030057596 scopus 로고    scopus 로고
    • The t/epb 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/epb null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain and pituitary. Genes Dev 1996;10:60-9.
    • (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
  • 51
    • 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;113:1093-104.
    • (1991) Development , vol.113 , pp. 1093-1104
    • Lazzaro, D.1    Price, M.2    De Felice, M.3    Di Lauro, R.4
  • 52
    • 0024425390 scopus 로고
    • A thyroid-specific nuclear protein essential for tissue-specific expression of the tnyroglobulin promoter
    • Civitreale D, Lonigro R, Sinclair AJ, Di Lauro R. A thyroid-specific nuclear protein essential for tissue-specific expression of the tnyroglobulin promoter. EMBO J 1989;8:2537-42.
    • (1989) EMBO J , vol.8 , pp. 2537-2542
    • Civitreale, D.1    Lonigro, R.2    Sinclair, A.J.3    Di Lauro, R.4
  • 53
    • 0026593301 scopus 로고
    • Cell-type-specific expression of the rat thyroperoxidase promoter indicates common mechanisms for thyroid-specific gene expression
    • Francis-Lang H, Price M, Polycarpou-Schwarte M, Di Lauro R. Cell-type-specific expression of the rat thyroperoxidase promoter indicates common mechanisms for thyroid-specific gene expression. Mol Cell Biol 1992;12:576-88.
    • (1992) Mol Cell Biol , vol.12 , pp. 576-588
    • Francis-Lang, H.1    Price, M.2    Polycarpou-Schwarte, M.3    Di Lauro, R.4
  • 54
    • 0028934922 scopus 로고
    • Lung cell-specific expression of the murine surfactant protein A (SP-A) gene is mediated by interactions between the SP-A promoter and thyroid transcription factor-1
    • Bruno MD, Bohinski RJ, Huelsmon KM, Whitsett JA, Korfhagen TR. Lung cell-specific expression of the murine surfactant protein A (SP-A) gene is mediated by interactions between the SP-A promoter and thyroid transcription factor-1. J Biol Chem 1995;270:6531-6.
    • (1995) J Biol Chem , vol.270 , pp. 6531-6536
    • Bruno, M.D.1    Bohinski, R.J.2    Huelsmon, K.M.3    Whitsett, J.A.4    Korfhagen, T.R.5
  • 55
    • 0032580483 scopus 로고    scopus 로고
    • Deletion of the thyroid transcription factor-1 gene in on infant with neonotal thyroid dysfunction and respiratory failure
    • Devriendt K, Vonhole C, Motthijs G, de Zegher F. Deletion of the thyroid transcription factor-1 gene in on infant with neonotal thyroid dysfunction and respiratory failure. N Engl J Med 1998;338:1317-18.
    • (1998) N Engl J Med , vol.338 , pp. 1317-1318
    • Devriendt, K.1    Vonhole, C.2    Motthijs, G.3    De Zegher, F.4
  • 56
    • 0033837870 scopus 로고    scopus 로고
    • Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
    • Iwatani N, Mobe H, Devriendt K, Kodamo M, Miike T. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediotr 2000;137:272-6.
    • (2000) J Pediotr , vol.137 , pp. 272-276
    • Iwatani, N.1    Mobe, H.2    Devriendt, K.3    Kodamo, M.4    Miike, T.5
  • 57
    • 3342973111 scopus 로고    scopus 로고
    • Autosomol dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and atoxia caused by o mutation of NKX2-1
    • Doyle DA, Gonzalez I, Thomos B, Scovino M. Autosomol dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and atoxia caused by o mutation of NKX2-1. J Pediatr 2004;145:190-3.
    • (2004) J Pediatr , vol.145 , pp. 190-193
    • Doyle, D.A.1    Gonzalez, I.2    Thomos, B.3    Scovino, M.4
  • 60
    • 0029128828 scopus 로고
    • PAX genes: What's new in developmental biology and cancer?
    • Stuart ET, Gruss P. PAX genes: what's new in developmental biology and cancer? Hum Mol Genet 1995;4:1717-20.
    • (1995) Hum Mol Genet , vol.4 , pp. 1717-1720
    • Stuart, E.T.1    Gruss, P.2
  • 61
    • 0030560994 scopus 로고    scopus 로고
    • Pax genes and their role cell differentiation and development
    • Mansouri A, Hallonet M, Gruss P. Pax genes and their role cell differentiation and development. Curr Opin Cell Biol 1996;8:851-7.
    • (1996) Curr Opin Cell Biol , vol.8 , pp. 851-857
    • Mansouri, A.1    Hallonet, M.2    Gruss, P.3
  • 63
    • 0028957063 scopus 로고
    • Distinct functional properties of three human paired-box-proteins, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumors
    • Poleev A, Wendler F, Gickenscher H, Zannini S, Yaginuma K, Abbott C, Plachov D. Distinct functional properties of three human paired-box-proteins, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumors. Eur J Biochem 1995;228:899-911.
    • (1995) Eur J Biochem , vol.228 , pp. 899-911
    • Poleev, A.1    Wendler, F.2    Gickenscher, H.3    Zannini, S.4    Yaginuma, K.5    Abbott, C.6    Plachov, D.7
  • 65
    • 0031777309 scopus 로고    scopus 로고
    • Follicular cells of the thyroid gland require Pax8 gene function
    • Mansouri A, Chowdhury 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    Chowdhury, K.2    Gruss, P.3
  • 68
    • 0034885770 scopus 로고    scopus 로고
    • A novel mutation (Q40) in PAX8 associated with congenital hypothyroidism and thyroid hypoplosio: Evidence for phenotypic variability in mother and child
    • Congdon T, Nguyen LQ, Nogueiro CR, Habiby RL, Medeiros-Neto G, Kopp P. A novel mutation (Q40) in PAX8 associated with congenital hypothyroidism and thyroid hypoplosio: evidence for phenotypic variability in mother and child. J Clin Endocrinol Metab 2001;86:3962-7.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 3962-3967
    • Congdon, T.1    Nguyen, L.Q.2    Nogueiro, C.R.3    Habiby, R.L.4    Medeiros-Neto, G.5    Kopp, P.6
  • 70
    • 0030661647 scopus 로고    scopus 로고
    • PAX8 regulates human WT1 transcription through a novel DNA binding site
    • Fraizer GC, Shimamura R, Zhang X, Saubders GF. PAX8 regulates human WT1 transcription through a novel DNA binding site. J Biol Chem 1997;272:30678-87.
    • (1997) J Biol Chem , vol.272 , pp. 30678-30687
    • Fraizer, G.C.1    Shimamura, R.2    Zhang, X.3    Saubders, G.F.4
  • 71
    • 0033049567 scopus 로고    scopus 로고
    • The paired-domain transcription factor Pax8 binds to the upstream enhancer of the rat sodium/iodide symporter gene and participates in both thyroid-specific and cyclic-AMP-dependent transcription
    • Ohno M, Zannini M, Levy O, Carrasco N, Di Lauro R. The paired-domain transcription factor Pax8 binds to the upstream enhancer of the rat sodium/ iodide symporter gene and participates in both thyroid-specific and cyclic-AMP-dependent transcription. Mol Cell Biol 1999;19:2051-60.
    • (1999) Mol Cell Biol , vol.19 , pp. 2051-2060
    • Ohno, M.1    Zannini, M.2    Levy, O.3    Carrasco, N.4    Di Lauro, R.5
  • 72
    • 0034894005 scopus 로고    scopus 로고
    • Thyroid transcription factor 1 and Pax8 synergistically activate the promoter of human thyroglobulin gene
    • Espinoza CR, Schmitt TL, Loos U. Thyroid transcription factor 1 and Pax8 synergistically activate the promoter of human thyroglobulin gene. J Mol Endocrinol 2001;27:59-67.
    • (2001) J Mol Endocrinol , vol.27 , pp. 59-67
    • Espinoza, C.R.1    Schmitt, T.L.2    Loos, U.3
  • 74
    • 0033855731 scopus 로고    scopus 로고
    • Activating and inactivating mutations in the human GNAS1 gene
    • Aldred MA, Trembath RC. Activating and inactivating mutations in the human GNAS1 gene. Hum Mutation 2000;16:183-9.
    • (2000) Hum Mutation , vol.16 , pp. 183-189
    • Aldred, M.A.1    Trembath, R.C.2
  • 76
    • 0033304536 scopus 로고    scopus 로고
    • Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy
    • Yu D, Yu S, Schuster V, Kruse K, Clericuzio CL, Weinstein LS. Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. J Clin Endocrinol Metab 1999;84:3254-9.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 3254-3259
    • Yu, D.1    Yu, S.2    Schuster, V.3    Kruse, K.4    Clericuzio, C.L.5    Weinstein, L.S.6
  • 77
    • 0002527566 scopus 로고    scopus 로고
    • Hereditary Metabolic Disorders causing hypothyroidism
    • Braverman LE, Utiger RD, eds. Philadelphia: Lippincott-Raven
    • de Viilder JJM, Vulsma T. Hereditary Metabolic Disorders causing hypothyroidism. In: Braverman LE, Utiger RD, eds. Werner and Ingbar's the thyroid, 7th ed. Philadelphia: Lippincott-Raven, 1996:749-55.
    • (1996) Werner and Ingbar's the Thyroid, 7th Ed. , pp. 749-755
    • De Viilder, J.J.M.1    Vulsma, T.2
  • 78
    • 0028969799 scopus 로고
    • Regional localization of the gene for thyroid peroxidase to human chromosome 2p25 and mouse chromosome 12C
    • Endo Y, Onogi S, Umeki K, Yamamoto I, Kotani T, Ohtaki S, Fujita T. Regional localization of the gene for thyroid peroxidase to human chromosome 2p25 and mouse chromosome 12C. Genomics 1995;25:760-1.
    • (1995) Genomics , vol.25 , pp. 760-761
    • Endo, Y.1    Onogi, S.2    Umeki, K.3    Yamamoto, I.4    Kotani, T.5    Ohtaki, S.6    Fujita, T.7
  • 80
    • 0029039137 scopus 로고
    • Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis
    • Bikker H, Vulsma T, Baas F, de Vijlder JJM. Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. Hum Mutat 1995;6:9-16.
    • (1995) Hum Mutat , vol.6 , pp. 9-16
    • Bikker, H.1    Vulsma, T.2    Baas, F.3    De Vijlder, J.J.M.4
  • 82
    • 84995853515 scopus 로고
    • A 20-bosepair duplication in the humon thyroid peroxidase gene results in a total iodide organisation defect and congenital hypothyroidism
    • Bikker H, den Hortog MT, Baas F, Gons MH, Vulsma T, de Vijlder JJ. A 20-bosepair duplication in the humon thyroid peroxidase gene results in a total iodide organisation defect and congenital hypothyroidism. J Clin Endocrinol Metab 1994;79:248-52.
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 248-252
    • Bikker, H.1    Den Hortog, M.T.2    Baas, F.3    Gons, M.H.4    Vulsma, T.5    De Vijlder, J.J.6
  • 83
    • 0030013089 scopus 로고    scopus 로고
    • Congenitol hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene
    • Bikker H, Waelkens JJJ, Bravenboer B, de Vijlder JJJ. Congenitol hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene. J Clin Endocrinol Metabol 1996;81:2076-9.
    • (1996) J Clin Endocrinol Metabol , vol.81 , pp. 2076-2079
    • Bikker, H.1    Waelkens, J.J.J.2    Bravenboer, B.3    De Vijlder, J.J.J.4
  • 86
    • 0032974611 scopus 로고    scopus 로고
    • A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect
    • Kotani T, Umeki K, Yamaoto I, Maesaka H, Tachibana K, Ohtaki S. A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect. J Endocrinol 1999;160:267-73.
    • (1999) J Endocrinol , vol.160 , pp. 267-273
    • Kotani, T.1    Umeki, K.2    Yamaoto, I.3    Maesaka, H.4    Tachibana, K.5    Ohtaki, S.6
  • 87
    • 0035920812 scopus 로고    scopus 로고
    • Iodide organisation defects resulting from cosegregation of mutated and null thyroid peroxidase alleles
    • Kotani T, Umeki K, Yamamoto I, Ohtaki S, Adachi M, Tachibana K. Iodide organisation defects resulting from cosegregation of mutated and null thyroid peroxidase alleles. Mol Cell Endocrinol 2001;182:61-8.
    • (2001) Mol Cell Endocrinol , vol.182 , pp. 61-68
    • Kotani, T.1    Umeki, K.2    Yamamoto, I.3    Ohtaki, S.4    Adachi, M.5    Tachibana, K.6
  • 90
    • 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 Endocrinol Metab 2000;85:3708-12.
    • (2000) J Clin Endocrinol 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
  • 91
    • 0034913353 scopus 로고    scopus 로고
    • Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism
    • Ambrugger P, Stoeva I, Biebermann H, Torresani T, Leitner C, Gruter A. Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism. Eur J Endocrinol 2001;145:19-24.
    • (2001) Eur J Endocrinol , vol.145 , pp. 19-24
    • Ambrugger, P.1    Stoeva, I.2    Biebermann, H.3    Torresani, T.4    Leitner, C.5    Gruter, A.6
  • 93
    • 0042443259 scopus 로고
    • Congenital defects in thyroid hormone formation and action
    • DeGroot LJ, ed. Philadelphia: WB Saunders
    • DeGroot U. Congenital defects in thyroid hormone formation and action. In: DeGroot LJ, ed. Endocrinology, 3rd ed. Philadelphia: WB Saunders, 1995:871.
    • (1995) Endocrinology, 3rd Ed. , pp. 871
    • DeGroot, U.1
  • 94
    • 0031960583 scopus 로고    scopus 로고
    • Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism
    • Targovnik HM, Frechtel GD, Mendive FM, Vono J, Cochaux P, Vassart G, Medeiros-Neto G. Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism. Thyroid 1998;8:291-7.
    • (1998) Thyroid , vol.8 , pp. 291-297
    • Targovnik, H.M.1    Frechtel, G.D.2    Mendive, F.M.3    Vono, J.4    Cochaux, P.5    Vassart, G.6    Medeiros-Neto, G.7
  • 96
    • 0033323823 scopus 로고    scopus 로고
    • Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin couse a defect in intracellulor transport of thyroglobulin in patients with congenital goiter and the variant type of odenomotous goiter
    • Hishinuma A, Takomatsu J, Ohyamo Y, Yokozawo T, Konno Y, Kuma K, Yoshido S, Motsuura N, Ieiro T. Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin couse a defect in intracellulor transport of thyroglobulin in patients with congenital goiter and the variant type of odenomotous goiter. J Clin Endocrinol Metab 1999;84:1438-44.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 1438-1444
    • Hishinuma, A.1    Takomatsu, J.2    Ohyamo, Y.3    Yokozawo, T.4    Konno, Y.5    Kuma, K.6    Yoshido, S.7    Motsuura, N.8    Ieiro, T.9
  • 97
    • 0032544022 scopus 로고    scopus 로고
    • A single amino acid change in the acerylcholinesterase-like domain of thyroglobulin causes congenital goitre with hypothyroidism in the cog/cog mouse: A model of human endoplasmic reticulum storage diseases
    • Kim PS, Hossain SA, Park Y-N, Lee I, Yoo S-E, Arvan P. A single amino acid change in the acerylcholinesterase-like domain of thyroglobulin causes congenital goitre with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage diseases. Proc Natl Acad Sci USA 1998;95:9909-13.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 9909-9913
    • Kim, P.S.1    Hossain, S.A.2    Park, Y.-N.3    Lee, I.4    Yoo, S.-E.5    Arvan, P.6
  • 98
    • 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, Targovnik 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;98:2838-44.
    • (1996) J Clin Invest , vol.98 , pp. 2838-2844
    • Medeiros-Neto, G.1    Kim, P.S.2    Yoo, S.E.3    Vono, J.4    Targovnik, H.5    Camargo, R.6    Hossain, S.A.7    Arvan, P.8
  • 99
    • 0029941327 scopus 로고    scopus 로고
    • An endoplasmic reticulum storage disease causing congenital goiter with hypothyroidism
    • Kim PS, Kwon O-Y, Arvan P. An endoplasmic reticulum storage disease causing congenital goiter with hypothyroidism. J Cell Biol 1996;133:517-27.
    • (1996) J Cell Biol , vol.133 , pp. 517-527
    • Kim, P.S.1    Kwon, O.-Y.2    Arvan, P.3
  • 100
    • 0030053759 scopus 로고    scopus 로고
    • Cloning and characterization of the thyroid iodide transporter
    • Dai G, Levy O, Carrasco N. Cloning and characterization of the thyroid iodide transporter. Nature 1996;379:458-60.
    • (1996) Nature , vol.379 , pp. 458-460
    • Dai, G.1    Levy, O.2    Carrasco, N.3
  • 101
    • 0030739949 scopus 로고    scopus 로고
    • Expression, exon· intron organization, and chromosome mapping of the human sodium iodide symporter
    • Smanik PA, Ryu K-Y, Theil KS, Mazzaferri EL, Jhiang SN. Expression, exon· intron organization, and chromosome mapping of the human sodium iodide symporter. Endocrinology 1997;138:3555-8.
    • (1997) Endocrinology , vol.138 , pp. 3555-3558
    • Smanik, P.A.1    Ryu, K.-Y.2    Theil, K.S.3    Mazzaferri, E.L.4    Jhiang, S.N.5
  • 102
    • 0020776042 scopus 로고
    • Congenital goiter with defective iodide transport
    • Wolff J. Congenital goiter with defective iodide transport. Endocr Rev 1983,4:240-54.
    • (1983) Endocr Rev , vol.4 , pp. 240-254
    • Wolff, J.1
  • 104
    • 0031763451 scopus 로고    scopus 로고
    • High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures
    • Kosugi S, Sato Y, Matsuda A, Ohyama Y, Fujieda K, Inomata H, Kameya T, Isozaki O, Jhiang SM. High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures. J Clin Endocrinol Metab 1998;83:4123-9.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 4123-4129
    • Kosugi, S.1    Sato, Y.2    Matsuda, A.3    Ohyama, Y.4    Fujieda, K.5    Inomata, H.6    Kameya, T.7    Isozaki, O.8    Jhiang, S.M.9
  • 107
    • 0000602353 scopus 로고
    • Anatomic surdi nati sectio: De Boroniensi scientarium et artium instituto otque acedemia commentarii
    • Mondini C. Anatomic surdi nati sectio: de Boroniensi scientarium et artium instituto otque acedemia commentarii. Bononiae 1791;7:419-31.
    • (1791) Bononiae , vol.7 , pp. 419-431
    • Mondini, C.1
  • 108
    • 0033964071 scopus 로고    scopus 로고
    • Enlarged vestibular aqueduct: A radiological marker of Pendred syndrome, and mutation of the PDS gene
    • Reardon W, O'Mahoney CF, Tremboth R, Jon H, Phelps PD. Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene. Q J Med 2000;93:99-104.
    • (2000) Q J Med , vol.93 , pp. 99-104
    • Reardon, W.1    O'Mahoney, C.F.2    Tremboth, R.3    Jon, H.4    Phelps, P.D.5
  • 112
    • 0034463973 scopus 로고    scopus 로고
    • Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells
    • Royaux IE, Suzuki K, Mori A, Katoh R, Everett LA, Kohn LD, Green ED. Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells. Endocrinology 2000;14:839-45.
    • (2000) Endocrinology , vol.14 , pp. 839-845
    • Royaux, I.E.1    Suzuki, K.2    Mori, A.3    Katoh, R.4    Everett, L.A.5    Kohn, L.D.6    Green, E.D.7
  • 113
    • 0034235222 scopus 로고    scopus 로고
    • Functional differences of the PDS gene products are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)
    • Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Bishop JR, Smith RJH, Karniski LP, Sheffield VC. Functional differences of the PDS gene products are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum Mol Genet 2000;9:1709-15.
    • (2000) Hum Mol Genet , vol.9 , pp. 1709-1715
    • Scott, D.A.1    Wang, R.2    Kreman, T.M.3    Andrews, M.4    McDonald, J.M.5    Bishop, J.R.6    Smith, R.J.H.7    Karniski, L.P.8    Sheffield, V.C.9
  • 115
    • 0025924121 scopus 로고
    • The H2O2-generating system modulates protein iodination and the activity of the pentose phosphate pathway in dog thyroid
    • Corvilain B, Van Sande J, Laurent E, Dumont JE. The H2O2-generating system modulates protein iodination and the activity of the pentose phosphate pathway in dog thyroid. Endocrinology 1991;128:779-85.
    • (1991) Endocrinology , vol.128 , pp. 779-785
    • Corvilain, B.1    Van Sande, J.2    Laurent, E.3    Dumont, J.E.4
  • 116
    • 1142309762 scopus 로고    scopus 로고
    • Structural and functional characterization of two humon ThOX/Duox genes and their 5′ flanking regions
    • Pachucki J, Wang D, Christophe D, Miot F. Structural and functional characterization of two humon ThOX/Duox genes and their 5′ flanking regions. Mol Cell Endocrinol 2004;214:53-62.
    • (2004) Mol Cell Endocrinol , vol.214 , pp. 53-62
    • Pachucki, J.1    Wang, D.2    Christophe, D.3    Miot, F.4
  • 119
    • 0347634343 scopus 로고    scopus 로고
    • A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene
    • Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refefoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 2004;74:168-75
    • (2004) Am J Hum Genet , vol.74 , pp. 168-175
    • Dumitrescu, A.M.1    Liao, X.H.2    Best, T.B.3    Brockmann, K.4    Refefoff, S.5
  • 120
    • 1542284104 scopus 로고    scopus 로고
    • Erratum in: Am J Hum Genet 2004;74:598
    • (2004) Am J Hum Genet , vol.74 , pp. 598
  • 121
    • 0036093894 scopus 로고    scopus 로고
    • Intrauterine diagnosis and management of congenital hypothyroidism
    • Agrawal P, Ogilvy-Stuart A, Lees C. Intrauterine diagnosis and management of congenital hypothyroidism. Ultrasound Obstet Gynecol 2002;19:501-5.
    • (2002) Ultrasound Obstet Gynecol , vol.19 , pp. 501-505
    • Agrawal, P.1    Ogilvy-Stuart, A.2    Lees, C.3
  • 122
    • 0009492850 scopus 로고
    • Diagnosis and treatment of thyroid disease during pregnancy
    • DeGroof U, Besser M, Burger HG, Jameson JL, Loriaux DL, Marshall JC, Odell WD Potts JT, Rubenstein AAAH, eds. Philadelphia: WB Saunders
    • Becks GP, Burrow GN. Diagnosis and treatment of thyroid disease during pregnancy. In: DeGroof U, Besser M, Burger HG, Jameson JL, Loriaux DL, Marshall JC, Odell WD Potts JT, Rubenstein AAAH, eds. Endocrinology, 3rd ed. Philadelphia: WB Saunders, 1995:799-820.
    • (1995) Endocrinology, 3rd Ed. , pp. 799-820
    • Becks, G.P.1    Burrow, G.N.2
  • 123
    • 0141816819 scopus 로고    scopus 로고
    • Thyrotropin receptor autoantibodies (TSHRAbs): Epitopes, origins and clinical significance
    • Kohn LD, Harii N. Thyrotropin receptor autoantibodies (TSHRAbs): epitopes, origins and clinical significance. Autoimmunity 2003;36:331-7.
    • (2003) Autoimmunity , vol.36 , pp. 331-337
    • Kohn, L.D.1    Harii, N.2
  • 126
    • 0030029503 scopus 로고    scopus 로고
    • Neuropsychologic development in early treated congenital hypothyroidism: Analysis of literature dota
    • Derksen-Lubsen G, Verkerk PH. Neuropsychologic development in early treated congenital hypothyroidism: analysis of literature dota. Pediatr Res 1996;39:561-6.
    • (1996) Pediatr Res , vol.39 , pp. 561-566
    • Derksen-Lubsen, G.1    Verkerk, P.H.2
  • 127
    • 0030060625 scopus 로고    scopus 로고
    • Outcome of severe congenital hypothyroidism: Closing the developmental gop with early high dose levothyroxine treatment
    • Dubuis JM, Glorieux J, Richer F, Deal CL, Dussault JH, Van Vliet G. Outcome of severe congenital hypothyroidism: closing the developmental gop with early high dose levothyroxine treatment. J Clin Endocrinol Metab 1996;81:222-7.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 222-227
    • Dubuis, J.M.1    Glorieux, J.2    Richer, F.3    Deal, C.L.4    Dussault, J.H.5    Van Vliet, G.6
  • 128
    • 0025763740 scopus 로고
    • Intellectual development in children with congenital hypothyroidism in relation to recommended thyroxine treatment
    • Heyerdahl S, Kase BF, Lie SO. Intellectual development in children with congenital hypothyroidism in relation to recommended thyroxine treatment. J Pediatr 1991;18:850-7.
    • (1991) J Pediatr , vol.18 , pp. 850-857
    • Heyerdahl, S.1    Kase, B.F.2    Lie, S.O.3
  • 129
    • 0028142353 scopus 로고
    • Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: A threshold effect
    • Tillotson SL, Fuggle PW, Smith I, Ades AE, Grant DB. Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: a threshold effect. BMJ 1994;309:440-5.
    • (1994) BMJ , vol.309 , pp. 440-445
    • Tillotson, S.L.1    Fuggle, P.W.2    Smith, I.3    Ades, A.E.4    Grant, D.B.5
  • 130
    • 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. Development 1995;121:1989-2003.
    • (1995) Development , vol.121 , pp. 1989-2003
    • Manley, N.R.1    Capecchi, M.R.2
  • 131
    • 0019511103 scopus 로고
    • A deletion in chromosome 22 can cause DiGeorge syndrome
    • de la Chapelle A, Herva R, Koivisto M, Aula P. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 1981;57:253-6.
    • (1981) Hum Genet , vol.57 , pp. 253-256
    • De La Chapelle, A.1    Herva, R.2    Koivisto, M.3    Aula, P.4
  • 132
    • 0027292007 scopus 로고
    • Thyroid C cells in the DiGeorge anomaly: A quantitative study
    • Pueblitz S, Weinberg AG, Albores-Soavedra J. Thyroid C cells in the DiGeorge onomaly: a quantitative study. Pediotr Pathol 1993;13:463-73.
    • (1993) Pediatr Pathol , vol.13 , pp. 463-473
    • Pueblitz, S.1    Weinberg, A.G.2    Albores-Soavedra, J.3
  • 133
    • 0038678572 scopus 로고    scopus 로고
    • Perturbed thyroid morphology and transient hypothyroidism symptoms in Hoxa5 mutant mice
    • Meunier D, Aubin J, Jeonnotte L. Perturbed thyroid morphology and transient hypothyroidism symptoms in Hoxa5 mutant mice. Dev Dyn 2003;227:367-78.
    • (2003) Dev Dyn , vol.227 , pp. 367-378
    • Meunier, D.1    Aubin, J.2    Jeonnotte, L.3
  • 134
    • 0027700251 scopus 로고
    • Nkx-2 5: A novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants
    • Lints TJ, Parsons LM, Hartley L, Lyons I, Harvey RP. Nkx-2. 5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants, Development 1993;119:419-31.
    • (1993) Development , vol.119 , pp. 419-431
    • Lints, T.J.1    Parsons, L.M.2    Hartley, L.3    Lyons, I.4    Harvey, R.P.5
  • 135
    • 0030991994 scopus 로고    scopus 로고
    • Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992
    • Roberts HE, Moore CA, Fernhoff PM, Brown AL, Khoury MJ. Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992. Am J Med Genet 1997;71:29-32.
    • (1997) Am J Med Genet , vol.71 , pp. 29-32
    • Roberts, H.E.1    Moore, C.A.2    Fernhoff, P.M.3    Brown, A.L.4    Khoury, M.J.5


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