-
1
-
-
0016795170
-
Preliminary report on a mass screening program for neonatal hypothyroidism
-
Dussault JH, Coulombe P, Laberge C, Letarte J, Guyda H, Khoury K 1975 Preliminary report on a mass screening program for neonatal hypothyroidism. J Pediatr 86:670-674
-
(1975)
J Pediatr
, vol.86
, pp. 670-674
-
-
Dussault, J.H.1
Coulombe, P.2
Laberge, C.3
Letarte, J.4
Guyda, H.5
Khoury, K.6
-
2
-
-
33745318070
-
Update of newborn screening and therapy for congenital hypothyroidism
-
DOI 10.1542/peds.2006-0915
-
Rose SR, Brown RS, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S, Varma SK 2006 Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics 117:2290-2303 (Pubitemid 46071281)
-
(2006)
Pediatrics
, vol.117
, Issue.6
, pp. 2290-2303
-
-
Rose, S.R.1
Brown, R.S.2
Foley, T.3
Kaplowitz, P.B.4
Kaye, C.I.5
Sundararajan, S.6
Varma, S.K.7
Brink, S.J.8
Clarke, W.L.9
Silverstein, J.10
Scales, R.11
Laskosz, L.12
Schaefer, G.B.13
Bull, M.J.14
Enns, G.M.15
Gruen, J.R.16
Hersh, J.H.17
Mendelsohn, N.J.18
Saal, H.M.19
Goldberg, J.D.20
Hanson, J.W.21
Lloyd-Puryear, M.A.22
Rasmussen, S.A.23
Spire, P.24
Hollowell Jr., J.G.25
Bernet, V.J.26
Belin, R.M.27
Burman, K.D.28
Fein, H.G.29
Hennessey, J.V.30
Lamm, S.H.31
Mitchell, M.L.32
Park, H.-M.33
Robbins, R.J.34
Bahn, R.S.35
Becker, D.V.36
Franklyn, J.A.37
Robbins, J.38
Van Middlesworth, L.39
Levitsky, L.L.40
Rogol, A.D.41
Radovich, S.42
more..
-
3
-
-
77956583136
-
Screening for congenital hypothyroidism: The significance of threshold limit in false-negative results
-
Mengreli C, Kanaka-Gantenbein C, Girginoudis P, Magiakou MA, Christakopoulou I, Giannoulia-Karantana A, Chrousos GP, Dacou-Voutetakis C 2010 Screening for congenital hypothyroidism: the significance of threshold limit in false-negative results. J Clin Endocrinol Metab 95:4283-4290
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 4283-4290
-
-
Mengreli, C.1
Kanaka-Gantenbein, C.2
Girginoudis, P.3
Magiakou, M.A.4
Christakopoulou, I.5
Giannoulia-Karantana, A.6
Chrousos, G.P.7
Dacou-Voutetakis, C.8
-
4
-
-
70349680738
-
A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)
-
(Oxf)
-
Corbetta C, Weber G, Cortinovis F, Calebiro D, Passoni A, Vigone MC, Beck-Peccoz P, Chiumello G, Persani L 2009 A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clin Endocrinol (Oxf) 71:739-745
-
(2009)
Clin Endocrinol
, vol.71
, pp. 739-745
-
-
Corbetta, C.1
Weber, G.2
Cortinovis, F.3
Calebiro, D.4
Passoni, A.5
Vigone, M.C.6
Beck-Peccoz, P.7
Chiumello, G.8
Persani, L.9
-
5
-
-
77949895491
-
Difficulties in selecting an appropriate neonatal thyroid stimulating hormone (TSH) screening threshold
-
Korada SM, Pearce M, Ward Platt MP, Avis E, Turner S, Wastell H, Cheetham T 2010 Difficulties in selecting an appropriate neonatal thyroid stimulating hormone (TSH) screening threshold. Arch Dis Child 95:169-173
-
(2010)
Arch Dis Child
, vol.95
, pp. 169-173
-
-
Korada, S.M.1
Pearce, M.2
Ward Platt, M.P.3
Avis, E.4
Turner, S.5
Wastell, H.6
Cheetham, T.7
-
6
-
-
34249338694
-
Increase in congenital hypothyroidism in New York State and in the United States
-
Harris KB, Pass KA 2007 Increase in congenital hypothyroidism in New York State and in the United States. Mol Genet Metab 91:268-277
-
(2007)
Mol Genet Metab
, vol.91
, pp. 268-277
-
-
Harris, K.B.1
Pass, K.A.2
-
7
-
-
77951831557
-
Prevalence of congenital hypothyroidism - Current trends and future directions: Workshop summary
-
Olney RS, Grosse SD, Vogt Jr RF 2010 Prevalence of congenital hypothyroidism - current trends and future directions: workshop summary. Pediatrics 125(Suppl 2):S31-S36
-
(2010)
Pediatrics
, vol.125
, Issue.SUPPL. 2
-
-
Olney, R.S.1
Grosse, S.D.2
Vogt Jr., R.F.3
-
8
-
-
77951865905
-
The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States
-
Parks JS, Lin M, Grosse SD, Hinton CF, Drummond-Borg M, Borgfeld L, Sullivan KM 2010 The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States. Pediatrics 125(Suppl 2):S54-S63
-
(2010)
Pediatrics
, vol.125
, Issue.SUPPL. 2
-
-
Parks, J.S.1
Lin, M.2
Grosse, S.D.3
Hinton, C.F.4
Drummond-Borg, M.5
Borgfeld, L.6
Sullivan, K.M.7
-
9
-
-
77951824353
-
Trends in incidence rates of congenital hypothyroidism related to select demographic factors: Data from the United States, California, Massachusetts, New York, and Texas
-
Hinton CF, Harris KB, Borgfeld L, Drummond-Borg M, Eaton R, Lorey F, Therrell BL, Wallace J, Pass KA 2010 Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachusetts, New York, and Texas. Pediatrics 125(Suppl 2):S37-S47
-
(2010)
Pediatrics
, vol.125
, Issue.SUPPL. 2
-
-
Hinton, C.F.1
Harris, K.B.2
Borgfeld, L.3
Drummond-Borg, M.4
Eaton, R.5
Lorey, F.6
Therrell, B.L.7
Wallace, J.8
Pass, K.A.9
-
10
-
-
77951790203
-
Effect of laboratory practices on the incidence rate of congenital hypothyroidism
-
Hertzberg V, Mei J, Therrell BL 2010 Effect of laboratory practices on the incidence rate of congenital hypothyroidism. Pediatrics 125(Suppl 2):S48-S53
-
(2010)
Pediatrics
, vol.125
, Issue.SUPPL. 2
-
-
Hertzberg, V.1
Mei, J.2
Therrell, B.L.3
-
11
-
-
0033941261
-
Congenital hypothyroidism: Expanding the spectrum
-
Rapaport R 2000 Congenital hypothyroidism: expanding the spectrum. J Pediatr 136:10-12
-
(2000)
J Pediatr
, vol.136
, pp. 10-12
-
-
Rapaport, R.1
-
12
-
-
34249882451
-
Late rise of thyroid stimulating hormone in III newborns
-
Hyman SJ, Greig F, Holzman I, Patel A, Wallach E, Rapaport R 2007 Late rise of thyroid stimulating hormone in ill newborns. J Pediatr Endocrinol Metab 20:501-510 (Pubitemid 46865030)
-
(2007)
Journal of Pediatric Endocrinology and Metabolism
, vol.20
, Issue.4
, pp. 501-510
-
-
Hyman, S.J.1
Greig, F.2
Holzman, I.3
Patel, A.4
Wallach, E.5
Rapaport, R.6
-
13
-
-
57349176149
-
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program
-
DOI 10.1210/jc.2008-0856
-
Maruo Y, Takahashi H, Soeda I, Nishikura N, Matsui K, Ota Y, Mimura Y, Mori A, Sato H, Takeuchi Y 2008 Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. J Clin Endocrinol Metab 93:4261-4267 (Pubitemid 352789520)
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, Issue.11
, 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
-
14
-
-
0037063119
-
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism
-
DOI 10.1056/NEJMoa012752
-
Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C 2002 Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 347:95-102 (Pubitemid 34753479)
-
(2002)
New England Journal of Medicine
, vol.347
, Issue.2
, pp. 95-102
-
-
Moreno, J.C.1
Bikker, H.2
Kempers, M.J.E.3
Paul Van Trotsenburg, A.S.4
Baas, F.5
De Vijlder, J.J.M.6
Vulsma, T.7
Ris-Stalpers, C.8
-
15
-
-
77950386307
-
Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism
-
Hoste C, Rigutto S, Van Vliet G, Miot F, De Deken X 2010 Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism. Hum Mutat 31:E1304-E1319
-
(2010)
Hum Mutat
, vol.31
-
-
Hoste, C.1
Rigutto, S.2
Van Vliet, G.3
Miot, F.4
De Deken, X.5
-
16
-
-
34347324079
-
Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese
-
DOI 10.1007/s12020-006-0018-z, PII ENDO303383
-
Kanda K, Mizuno H, Sugiyama Y, Imamine H, Togari H, Onigata K 2006 Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese. Endocrine 30:383-388 (Pubitemid 47010976)
-
(2006)
Endocrine
, vol.30
, Issue.3
, pp. 383-388
-
-
Kanda, K.1
Mizuno, H.2
Sugiyama, Y.3
Imamine, H.4
Togari, H.5
Onigata, K.6
-
17
-
-
1042288131
-
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor
-
DOI 10.1111/j.1365-2265.2004.01967.x
-
Park SM, Clifton-Bligh RJ, Betts P, Chatterjee VK 2004 Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. Clin Endocrinol (Oxf) 60:220-227 (Pubitemid 38200904)
-
(2004)
Clinical Endocrinology
, vol.60
, Issue.2
, pp. 220-227
-
-
Park, S.-M.1
Clifton-Bligh, R.J.2
Betts, P.3
Chatterjee, V.K.K.4
-
18
-
-
0027376596
-
Thyrotropin-releasing hormone stimulation tests in infants
-
DOI 10.1210/jc.77.4.889
-
Rapaport R, Sills I, Patel U, Oppenheimer E, Skuza K, Horlick M, Goldstein S, Dimartino J, Saenger P 1993 Thyrotropin-releasing hormone stimulation tests in infants. J Clin Endocrinol Metab 77:889-894 (Pubitemid 23301459)
-
(1993)
Journal of Clinical Endocrinology and Metabolism
, vol.77
, Issue.4
, pp. 889-894
-
-
Rapaport, R.1
Sills, I.2
Patel, U.3
Oppenheimer, E.4
Skuza, K.5
Horlick, M.6
Goldstein, S.7
Dimartino, J.8
Saenger, P.9
-
19
-
-
39049113461
-
Role of the thyrotropin-releasing hormone stimulation test in diagnosis of congenital central hypothyroidism in infants
-
van Tijn DA, de Vijlder JJ, Vulsma T 2008 Role of the thyrotropin-releasing hormone stimulation test in diagnosis of congenital central hypothyroidism in infants. J Clin Endocrinol Metab 93:410-419
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 410-419
-
-
Van Tijn, D.A.1
De Vijlder, J.J.2
Vulsma, T.3
-
21
-
-
77954944963
-
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis
-
Thorwarth A, Mueller I, Biebermann H, Ropers HH, Grueters A, Krude H, Ullmann R 2010 Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. J Clin Endocrinol Metab 95:3446-3452
-
(2010)
J Clin Endocrinol 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
-
22
-
-
77951626837
-
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, Hasegawa T 2010 Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. J Clin Endocrinol Metab 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
Hasegawa, T.5
-
23
-
-
34250772461
-
Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: Identification of a novel sequence variant
-
(Oxf)
-
Tonacchera M, Banco ME, Montanelli L, Di Cosmo C, Agretti P, De Marco G, Ferrarini E, Ordookhani A, Perri A, Chiovato L, Santini F, Vitti P, Pinchera A 2007 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 (Oxf) 67:34-40
-
(2007)
Clin Endocrinol
, vol.67
, pp. 34-40
-
-
Tonacchera, M.1
Banco, M.E.2
Montanelli, L.3
Di Cosmo, C.4
Agretti, P.5
De Marco, G.6
Ferrarini, E.7
Ordookhani, A.8
Perri, A.9
Chiovato, L.10
Santini, F.11
Vitti, P.12
Pinchera, A.13
|