-
1
-
-
0004482565
-
The discovery of cretinism
-
Cranefield P.F. The discovery of cretinism. Bull. Hist. Med. 36 (1962) 489-511
-
(1962)
Bull. Hist. Med.
, vol.36
, pp. 489-511
-
-
Cranefield, P.F.1
-
3
-
-
13444273944
-
Two cases of absence of the thyroid body, and symmetrical swellings of tissue at the sides of the neck, connected with defective cerebral development
-
Curling T.B. Two cases of absence of the thyroid body, and symmetrical swellings of tissue at the sides of the neck, connected with defective cerebral development. Med. Chir. Thorac. 33 (1850) 303-306
-
(1850)
Med. Chir. Thorac.
, vol.33
, pp. 303-306
-
-
Curling, T.B.1
-
4
-
-
33646808578
-
On sporadic cretinism occurring in England
-
Fagge C.H. On sporadic cretinism occurring in England. Royal Med. Chir. Soc. (London) 54 (1871) 1566-1569
-
(1871)
Royal Med. Chir. Soc. (London)
, vol.54
, pp. 1566-1569
-
-
Fagge, C.H.1
-
5
-
-
0041655602
-
On sporadic cretinism in America
-
Osler W. On sporadic cretinism in America. Trans Congr Am. Phys. Surg. 4 (1897) 169-206
-
(1897)
Trans Congr Am. Phys. Surg.
, vol.4
, pp. 169-206
-
-
Osler, W.1
-
6
-
-
84965340960
-
Note on the treatment of myxoedema by hypodermic injection of an extract of the thyroid gland of a sheep
-
Murray G.R. Note on the treatment of myxoedema by hypodermic injection of an extract of the thyroid gland of a sheep. BMJ 2 (1891) 796-797
-
(1891)
BMJ
, vol.2
, pp. 796-797
-
-
Murray, G.R.1
-
7
-
-
84965226382
-
Preliminary notes on the active substance in the thyroid
-
Hutchison R. Preliminary notes on the active substance in the thyroid. BMJ 7 (1896) 722-723
-
(1896)
BMJ
, vol.7
, pp. 722-723
-
-
Hutchison, R.1
-
8
-
-
84941835094
-
Ueber das normale vorkommen von jod im thierkorper
-
Baumann E. Ueber das normale vorkommen von jod im thierkorper. Hoppe-Seyler Z. Physiol. Chem. 21 (1895) 319
-
(1895)
Hoppe-Seyler Z. Physiol. Chem.
, vol.21
, pp. 319
-
-
Baumann, E.1
-
9
-
-
37049153397
-
The synthesis of thyroxine and related substances: V. Part. A synthesis of l-thyroxine from l-tyrosine
-
Chalmers J.R., Dickson G.T., Elks J., and Hems B.A. The synthesis of thyroxine and related substances: V. Part. A synthesis of l-thyroxine from l-tyrosine. J. Chem. Soc. (1949) 3424
-
(1949)
J. Chem. Soc.
, pp. 3424
-
-
Chalmers, J.R.1
Dickson, G.T.2
Elks, J.3
Hems, B.A.4
-
10
-
-
0009428216
-
Studies of hypothyroidism in children
-
Andersen H.J. Studies of hypothyroidism in children. Acta Paediatr. Scand. 223 suppl. (1961) 7-150
-
(1961)
Acta Paediatr. Scand.
, vol.223
, Issue.SUPPL
, pp. 7-150
-
-
Andersen, H.J.1
-
11
-
-
0016934235
-
Inherited hypothyroidism
-
Jackson I.M.D. Inherited hypothyroidism. Clin. Perinatol. 3 (1976) 221-230
-
(1976)
Clin. Perinatol.
, vol.3
, pp. 221-230
-
-
Jackson, I.M.D.1
-
13
-
-
0003522678
-
Principles and practice of screening for disease
-
Screening for Inborn Errors of Metabolism, Geneva
-
Wilson J.M.G., and Jungner G. Principles and practice of screening for disease. World Health Organization, Technical Series, No 401 (1968), Screening for Inborn Errors of Metabolism, Geneva
-
(1968)
World Health Organization, Technical Series, No 401
-
-
Wilson, J.M.G.1
Jungner, G.2
-
14
-
-
0015130880
-
Cretinism: early diagnosis and its relation to mental prognosis
-
Raiti S., and Newns G.H. Cretinism: early diagnosis and its relation to mental prognosis. Arch. Dis. Child. 46 (1971) 692-694
-
(1971)
Arch. Dis. Child.
, vol.46
, pp. 692-694
-
-
Raiti, S.1
Newns, G.H.2
-
15
-
-
0015421050
-
Improved prognosis in congenital hypothyroidism treated before age three months
-
Klein A.H., Meltzer S., and Kenny F.M. Improved prognosis in congenital hypothyroidism treated before age three months. J. Pediatr. 81 (1972) 912-915
-
(1972)
J. Pediatr.
, vol.81
, pp. 912-915
-
-
Klein, A.H.1
Meltzer, S.2
Kenny, F.M.3
-
16
-
-
0021975726
-
Infantile hypothyroidism then and now: results of neonatal screening
-
Klein R.Z. Infantile hypothyroidism then and now: results of neonatal screening. Curr. Probl. Pediatr. 15 (1985) 1-58
-
(1985)
Curr. Probl. Pediatr.
, vol.15
, pp. 1-58
-
-
Klein, R.Z.1
-
18
-
-
0017857793
-
Congenital hypothyroidism and IQ increase: a quarter century follow-up
-
Money J., Clarke F.C., and Beck J. Congenital hypothyroidism and IQ increase: a quarter century follow-up. J. Pediatr. 93 (1978) 432-434
-
(1978)
J. Pediatr.
, vol.93
, pp. 432-434
-
-
Money, J.1
Clarke, F.C.2
Beck, J.3
-
19
-
-
0022358109
-
Follow-up at ages 5 and 7 years on mental development in children with hypothyroidism detected by Quebec screening program
-
Glorieux J., Dussault J.H., Morissette J., Desjardins M., Letarte J., and Guyda H. Follow-up at ages 5 and 7 years on mental development in children with hypothyroidism detected by Quebec screening program. J. Pediatr. 107 (1985) 913-915
-
(1985)
J. Pediatr.
, vol.107
, pp. 913-915
-
-
Glorieux, J.1
Dussault, J.H.2
Morissette, J.3
Desjardins, M.4
Letarte, J.5
Guyda, H.6
-
20
-
-
0023887693
-
Useful parameters to predict the eventual mental outcome of hypothyroid children
-
Glorieux J., Desjardins M., Letarte J., Morrissette J., and Dussault J.H. Useful parameters to predict the eventual mental outcome of hypothyroid children. Pediatr. Res. 24 (1988) 6-8
-
(1988)
Pediatr. Res.
, vol.24
, pp. 6-8
-
-
Glorieux, J.1
Desjardins, M.2
Letarte, J.3
Morrissette, J.4
Dussault, J.H.5
-
21
-
-
0030060625
-
Outcome of severe congenital hypothyroidism: closing the developmental gap with early high dose of levothroxine treatment
-
Dubuis J.M., Glorieux J., Richer F., Deal C.L., Dussault J.H., and Van Vliet G. Outcome of severe congenital hypothyroidism: closing the developmental gap with early high dose of levothroxine treatment. J. Clin. Endocrinol. Metabol. 81 (1996) 222-227
-
(1996)
J. Clin. Endocrinol. Metabol.
, 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
-
22
-
-
0029287506
-
The price of prevention
-
Leutwyler K. The price of prevention. Sci. Am. 10 (1995) 122-129
-
(1995)
Sci. Am.
, vol.10
, pp. 122-129
-
-
Leutwyler, K.1
-
23
-
-
0018390505
-
Screening for congenital hypothyroidism: results of screening one million North American infants
-
Fisher D.A., Dussault J.H., Foley Jr. T.P., Klein A.H., LaFranchi S., Larsen P.R., et al. Screening for congenital hypothyroidism: results of screening one million North American infants. J. Pediatr. 94 (1979) 700-705
-
(1979)
J. Pediatr.
, vol.94
, pp. 700-705
-
-
Fisher, D.A.1
Dussault, J.H.2
Foley Jr., T.P.3
Klein, A.H.4
LaFranchi, S.5
Larsen, P.R.6
-
24
-
-
0031960583
-
Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism
-
Targovnik H.M., Frechtel G.D., Mendive F.M., et al. Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism. Thyroid 8 (1998) 291-297
-
(1998)
Thyroid
, vol.8
, pp. 291-297
-
-
Targovnik, H.M.1
Frechtel, G.D.2
Mendive, F.M.3
-
25
-
-
0142216506
-
Primary congenital hypothyroidism: defects in iodine pathway
-
De Vijlder J.J.M. Primary congenital hypothyroidism: defects in iodine pathway. Eur. J. Endocrinol. 149 (2003) 247-256
-
(2003)
Eur. J. Endocrinol.
, vol.149
, pp. 247-256
-
-
De Vijlder, J.J.M.1
-
26
-
-
0015350897
-
A rapid radioimmunoassay for measurement of thyroxine in unextracted serum
-
Chopra I.J. A rapid radioimmunoassay for measurement of thyroxine in unextracted serum. J. Clin. Endocrinol. Metabol. 34 (1972) 938-947
-
(1972)
J. Clin. Endocrinol. Metabol.
, vol.34
, pp. 938-947
-
-
Chopra, I.J.1
-
27
-
-
0015808415
-
4) determination in dried blood by radioimmunoassay: a screening method for neonatal hypothyroidism
-
4) determination in dried blood by radioimmunoassay: a screening method for neonatal hypothyroidism. Union Med. Can. 102 (1973) 2062-2064
-
(1973)
Union Med. Can.
, vol.102
, pp. 2062-2064
-
-
Dussault, J.H.1
Laberge, C.2
-
28
-
-
0016795170
-
Preliminary report on a mass screening program for neonatal hypothyroidism
-
Dussault J.H., Coulombe P., Laberge C., et al. Preliminary report on a mass screening program for neonatal hypothyroidism. J. Pediatr. 86 (1975) 670-674
-
(1975)
J. Pediatr.
, vol.86
, pp. 670-674
-
-
Dussault, J.H.1
Coulombe, P.2
Laberge, C.3
-
29
-
-
0017338033
-
Serum thyrotrophin determination on day 5 of life as screening procedure for congenital hypothyroidism
-
Delange F., Camus M., Winkler M., Dodion J., and Ermans A.M. Serum thyrotrophin determination on day 5 of life as screening procedure for congenital hypothyroidism. Arch. Dis. Child. 52 (1977) 89-96
-
(1977)
Arch. Dis. Child.
, vol.52
, pp. 89-96
-
-
Delange, F.1
Camus, M.2
Winkler, M.3
Dodion, J.4
Ermans, A.M.5
-
30
-
-
0014573628
-
Acute release of thyrotropin in the newborn
-
Fisher D.A., and Odell W.D. Acute release of thyrotropin in the newborn. J. Clin. Invest. 48 (1969) 1670-1677
-
(1969)
J. Clin. Invest.
, vol.48
, pp. 1670-1677
-
-
Fisher, D.A.1
Odell, W.D.2
-
31
-
-
0022357720
-
Screening for congenital hypothyroidism with collection at two time periods
-
La Franchi S.H., Hanna C.E., Krainz P.L., et al. Screening for congenital hypothyroidism with collection at two time periods. Pediatrics 76 (1985) 734-740
-
(1985)
Pediatrics
, vol.76
, pp. 734-740
-
-
La Franchi, S.H.1
Hanna, C.E.2
Krainz, P.L.3
-
32
-
-
0030841929
-
Neonatal screening for congenital hypothyroidism: results and perspectives
-
Delange F. Neonatal screening for congenital hypothyroidism: results and perspectives. Horm. Res. 48 (1997) 51-61
-
(1997)
Horm. Res.
, vol.48
, pp. 51-61
-
-
Delange, F.1
-
33
-
-
30944451370
-
Neonatal endocrinopathies: should we change the screening method?
-
VanVliet G. Neonatal endocrinopathies: should we change the screening method?. Ital. J. Pediatr. 31 (2005) 209-212
-
(2005)
Ital. J. Pediatr.
, vol.31
, pp. 209-212
-
-
VanVliet, G.1
-
34
-
-
1642512299
-
Screening for neonatal endocrinopathies: rationale, methods and results
-
Van Vliet G., and Czernichow P. Screening for neonatal endocrinopathies: rationale, methods and results. Semin. Neonatol. 9 (2004) 75-85
-
(2004)
Semin. Neonatol.
, vol.9
, pp. 75-85
-
-
Van Vliet, G.1
Czernichow, P.2
-
35
-
-
0038042122
-
Newborn screening: An overview
-
Carreiro-Lewandowski E. Newborn screening: An overview. Clin. Lab. Sci. 15 (2002) 229-238
-
(2002)
Clin. Lab. Sci.
, vol.15
, pp. 229-238
-
-
Carreiro-Lewandowski, E.1
-
36
-
-
18844376979
-
Hypothyroidism in infants and children
-
Braverman L.E., and Utiger R.D. (Eds), Lippincott Williams and Wilkins, New York
-
Van Vliet G. Hypothyroidism in infants and children. In: Braverman L.E., and Utiger R.D. (Eds). The Thyroid: A Fundamental and Clinical Text (2005), Lippincott Williams and Wilkins, New York 1029-1047
-
(2005)
The Thyroid: A Fundamental and Clinical Text
, pp. 1029-1047
-
-
Van Vliet, G.1
-
37
-
-
0001668560
-
Preliminary report on filter paper TSH levels in the first 24 hours of life and the following days in a program screening for congenital hypothyroidism
-
Pass K.A., and Levy H.L. (Eds), Council of Regional Networks for Genetic Services Emory University School of Medicine, Atlanta, US
-
Dussault J.H., Grenier A., Morissette J., and Mitchell M. Preliminary report on filter paper TSH levels in the first 24 hours of life and the following days in a program screening for congenital hypothyroidism. In: Pass K.A., and Levy H.L. (Eds). Early Hospital Discharge: Impact on Newborn Screening (1995), Council of Regional Networks for Genetic Services Emory University School of Medicine, Atlanta, US 267-269
-
(1995)
Early Hospital Discharge: Impact on Newborn Screening
, pp. 267-269
-
-
Dussault, J.H.1
Grenier, A.2
Morissette, J.3
Mitchell, M.4
-
38
-
-
0033785508
-
US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Services (CORN)
-
Pass K.A., Lane P.A., Fernhoff P.M., Hinton C.F., Panny S.R., Parks J.S., et al. US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Services (CORN). J Pediatr. 137 (2000) S1-S46
-
(2000)
J Pediatr.
, vol.137
-
-
Pass, K.A.1
Lane, P.A.2
Fernhoff, P.M.3
Hinton, C.F.4
Panny, S.R.5
Parks, J.S.6
-
39
-
-
0035202331
-
A unique combination of transcription factors controls differentiation of thyroid cells
-
Damante G., Tell G., and Di Lauro R. A unique combination of transcription factors controls differentiation of thyroid cells. Prog. Nucl. Acid. Res. Mol. Biol. 66 (2001) 307-356
-
(2001)
Prog. Nucl. Acid. Res. Mol. Biol.
, vol.66
, pp. 307-356
-
-
Damante, G.1
Tell, G.2
Di Lauro, R.3
-
40
-
-
18344404449
-
TTF-2, a new forkhead protein shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation
-
Zannini M., Avantaggiato V., Biffali E., 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) 3185-3187
-
(1997)
EMBO J.
, vol.16
, pp. 3185-3187
-
-
Zannini, M.1
Avantaggiato, V.2
Biffali, E.3
-
41
-
-
9944248248
-
An integrated regulatory network controlling survival and migration in thyroid organogenesis
-
Parlato R., Rosica A., Rodriguez-Mallon A., 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
-
-
0042632714
-
Development of the thyroid gland: lessons from congenitally hypothyroid mice and men
-
VanVliet G. Development of the thyroid gland: lessons from congenitally hypothyroid mice and men. Clin. Genet. 63 (2003) 445-455
-
(2003)
Clin. Genet.
, vol.63
, pp. 445-455
-
-
VanVliet, G.1
-
43
-
-
0030057596
-
The T/Erp null-mouse: Thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary
-
Kimura S., Hira Y., Pineau T., et al. The T/Erp 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
Hira, Y.2
Pineau, T.3
-
44
-
-
0032841612
-
Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: evidence for a transformation of the pallidum into the striatum
-
Sussel L., Marin O., Kimura S., and Rubenstein J.L. Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: evidence for a transformation of the pallidum into the striatum. Development 126 (1999) 3359-3370
-
(1999)
Development
, vol.126
, pp. 3359-3370
-
-
Sussel, L.1
Marin, O.2
Kimura, S.3
Rubenstein, J.L.4
-
46
-
-
0032580483
-
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure
-
Devriendt K., Vanhole C., Matthijs G., and de Zegher F. 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
de Zegher, F.4
-
47
-
-
0033837870
-
Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
-
Iwatani N., Mabe H., Devriendt K., Kodama M., and Miike T. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J. Pediatr. 137 (2000) 272-276
-
(2000)
J. Pediatr.
, vol.137
, pp. 272-276
-
-
Iwatani, N.1
Mabe, H.2
Devriendt, K.3
Kodama, M.4
Miike, T.5
-
48
-
-
12144277942
-
Brain-thyroid-lung syndrome: a patient with severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene
-
Willemsen A.A.P., Breedveld G.J., Wouda S., et al. Brain-thyroid-lung syndrome: a patient with severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene. Eur. J. Pediatr. 164 (2005) 28-30
-
(2005)
Eur. J. Pediatr.
, vol.164
, pp. 28-30
-
-
Willemsen, A.A.P.1
Breedveld, G.J.2
Wouda, S.3
-
49
-
-
0036181474
-
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
-
Krude H., Schütz B., Biebermann H., 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
Schütz, B.2
Biebermann, H.3
-
50
-
-
0242267051
-
Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor
-
Moeller L.C., Kimura S., Kusakabe T., Liao X.-H., Van Sande J., and Refetoff S. Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor. Mol. Endocrinol. 17 (2003) 2295-2302
-
(2003)
Mol. Endocrinol.
, vol.17
, pp. 2295-2302
-
-
Moeller, L.C.1
Kimura, S.2
Kusakabe, T.3
Liao, X.-H.4
Van Sande, J.5
Refetoff, S.6
-
51
-
-
0031820442
-
Mutation in the gene encoding human TTF-2 associated with thyroid agenesis, cleft-palate and choanal atresia
-
Clifton-Bligh R.J., Wentworth J.M., and Heinz P. Mutation in the gene encoding human TTF-2 associated with thyroid agenesis, cleft-palate and choanal atresia. Nat. Genet. 19 (1998) 399-401
-
(1998)
Nat. Genet.
, vol.19
, pp. 399-401
-
-
Clifton-Bligh, R.J.1
Wentworth, J.M.2
Heinz, P.3
-
52
-
-
0037101847
-
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate
-
Castanet M., Park S.M., Smith A., 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
-
53
-
-
17344374131
-
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
-
Macchia P.A., Lapi P., Krude H., 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.A.1
Lapi, P.2
Krude, H.3
-
54
-
-
8744282728
-
Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability
-
de Sanctis L., Corrias A., and Romagnolo D. Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability. J. Clin. Endocrinol. Metabol. 89 (2004) 5669-7564
-
(2004)
J. Clin. Endocrinol. Metabol.
, vol.89
, pp. 5669-7564
-
-
de Sanctis, L.1
Corrias, A.2
Romagnolo, D.3
-
55
-
-
0030994365
-
Familial congenital hypothyroidism due to an inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
-
Abramowicz M.J., Duprez L., Parma J., Vassart G., and Heinrichs C. Familial congenital hypothyroidism due to an inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J. Clin. Invest. 99 (1997) 3018-3024
-
(1997)
J. Clin. Invest.
, vol.99
, pp. 3018-3024
-
-
Abramowicz, M.J.1
Duprez, L.2
Parma, J.3
Vassart, G.4
Heinrichs, C.5
-
56
-
-
0030989828
-
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH
-
Clifton-Bligh R.J., Gregory J.W., Ludgate M., et al. Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. J. Clin. Endocrinol. Metabol. 82 (1997) 1094-1100
-
(1997)
J. Clin. Endocrinol. Metabol.
, vol.82
, pp. 1094-1100
-
-
Clifton-Bligh, R.J.1
Gregory, J.W.2
Ludgate, M.3
-
57
-
-
0037341985
-
The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population
-
Jordan N., Williams N., Gregory J.W., Evans C., Owen M., and Ludgate M. The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population. J. Clin. Endocrinol. Metabol. 88 (2003) 1002-1005
-
(2003)
J. Clin. Endocrinol. Metabol.
, vol.88
, pp. 1002-1005
-
-
Jordan, N.1
Williams, N.2
Gregory, J.W.3
Evans, C.4
Owen, M.5
Ludgate, M.6
-
58
-
-
0034887740
-
Up to date with human thyroglobulin
-
Van de Graaf S.A., Ris-Stalpers C., Pauws E., Mendive F.M., Targovnik H.M., and de Vijlder J.J. Up to date with human thyroglobulin. J. Endocrinol. 170 (2001) 307-321
-
(2001)
J. Endocrinol.
, vol.170
, pp. 307-321
-
-
Van de Graaf, S.A.1
Ris-Stalpers, C.2
Pauws, E.3
Mendive, F.M.4
Targovnik, H.M.5
de Vijlder, J.J.6
-
59
-
-
0026334976
-
A 3'splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism
-
Ieiri T., Cochaux P., Targovnik H.M., et al. A 3'splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. J. Clin. Invest. 88 (1991) 1901-1905
-
(1991)
J. Clin. Invest.
, vol.88
, pp. 1901-1905
-
-
Ieiri, T.1
Cochaux, P.2
Targovnik, H.M.3
-
60
-
-
22044432580
-
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism
-
Vono-Toniolo J., and Kopp P. Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. Arq. Bras. Endocrinol. Metabol. 48 (2004) 70-82
-
(2004)
Arq. Bras. Endocrinol. Metabol.
, vol.48
, pp. 70-82
-
-
Vono-Toniolo, J.1
Kopp, P.2
-
61
-
-
0001783640
-
Hormone synthesis: thyroid iodine metabolism
-
Braverman L.E., and Utiger R.D. (Eds), Lippincott-Williams and Wilkins, Philadelphia, PN
-
Taurog A. Hormone synthesis: thyroid iodine metabolism. In: Braverman L.E., and Utiger R.D. (Eds). Werner and Ingbar's the Thyroid: A Fundamental and Clinical Text. 8th ed. (2000), Lippincott-Williams and Wilkins, Philadelphia, PN 61-84
-
(2000)
Werner and Ingbar's the Thyroid: A Fundamental and Clinical Text. 8th ed.
, pp. 61-84
-
-
Taurog, A.1
-
63
-
-
0026474438
-
Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter
-
Abramowicz M.J., Targovnik H.M., Varela V., et al. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J. Clin. Invest. 90 (1992) 1200-1204
-
(1992)
J. Clin. Invest.
, vol.90
, pp. 1200-1204
-
-
Abramowicz, M.J.1
Targovnik, H.M.2
Varela, V.3
-
64
-
-
0033756917
-
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 Ramie J.S., Wiedijk B.M., De Vijlder J.J., et al. Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). J. Clin. Endocrinol. Metabol. 85 (2000) 3708-3712
-
(2000)
J. Clin. Endocrinol. Metabol.
, vol.85
, pp. 3708-3712
-
-
Bakker, B.1
Bikker, H.2
Vulsma, T.3
de Ramie, J.S.4
Wiedijk, B.M.5
De Vijlder, J.J.6
-
65
-
-
1242341401
-
Advances in Na(+)/I (-) symporter (NIS) research in the thyroid and beyond
-
Dohan O., and Carrasco N. Advances in Na(+)/I (-) symporter (NIS) research in the thyroid and beyond. Mol. Cell. Endocrinol. 213 (2003) 59-70
-
(2003)
Mol. Cell. Endocrinol.
, vol.213
, pp. 59-70
-
-
Dohan, O.1
Carrasco, N.2
-
66
-
-
0037326161
-
The sodium/iodide Symporter (NIS): characterization, regulation, and medical significance
-
Dohan O., De la Vieja A., Paroder V., et al. The sodium/iodide Symporter (NIS): characterization, regulation, and medical significance. Endocr. Rev. 24 (2003) 48-77
-
(2003)
Endocr. Rev.
, vol.24
, pp. 48-77
-
-
Dohan, O.1
De la Vieja, A.2
Paroder, V.3
-
67
-
-
0031797296
-
Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients
-
Kosugi S., Inoue S., Matsuda A., and Jhiang S.M. Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients. J. Clin. Endocrinol. Metabol. 83 (1998) 3373-3376
-
(1998)
J. Clin. Endocrinol. Metabol.
, vol.83
, pp. 3373-3376
-
-
Kosugi, S.1
Inoue, S.2
Matsuda, A.3
Jhiang, S.M.4
-
68
-
-
0032031728
-
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site
-
Pohlenz J., Rosenthal I.M., Weiss R.E., Jhiang S.M., Burant C., and Refetoff S. Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. J. Clin. Invest. 101 (1998) 1028-1035
-
(1998)
J. Clin. Invest.
, vol.101
, pp. 1028-1035
-
-
Pohlenz, J.1
Rosenthal, I.M.2
Weiss, R.E.3
Jhiang, S.M.4
Burant, C.5
Refetoff, S.6
-
69
-
-
0025924121
-
2-generating system modulates protein iodination and the activity of the pentose phosphate pathway in the dog
-
2-generating system modulates protein iodination and the activity of the pentose phosphate pathway in the dog. Endocrinology 128 (1991) 779-785
-
(1991)
Endocrinology
, vol.128
, pp. 779-785
-
-
Corvilain, B.1
Van Sande, J.2
Laurent, E.3
Dumont, J.E.4
-
70
-
-
0034725643
-
Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family
-
Jul 28
-
De Deken X., Wang D., Many M.C., Costagliola S., Libert F., Vassart G., et al. Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family. J. Biol. Chem. 275 30 (2000) 23227-23233 Jul 28
-
(2000)
J. Biol. Chem.
, vol.275
, Issue.30
, pp. 23227-23233
-
-
De Deken, X.1
Wang, D.2
Many, M.C.3
Costagliola, S.4
Libert, F.5
Vassart, G.6
-
72
-
-
0037063119
-
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism
-
Moreno J.C., Bikker H., Kempers M.J.E., et al. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N. Engl. J. Med. 347 (2002) 95-102
-
(2002)
N. Engl. J. Med.
, vol.347
, pp. 95-102
-
-
Moreno, J.C.1
Bikker, H.2
Kempers, M.J.E.3
-
73
-
-
0025979337
-
Type 1 iodothyronine deiodinase is a seleno-cysteine-containing enzyme
-
Berry M.J., Banu L., and Larsen P.R. Type 1 iodothyronine deiodinase is a seleno-cysteine-containing enzyme. Nature 349 (1991) 438-440
-
(1991)
Nature
, vol.349
, pp. 438-440
-
-
Berry, M.J.1
Banu, L.2
Larsen, P.R.3
-
74
-
-
33646806762
-
Interactions of nitroaromatic compounds with the mammalian selenoprotein thioredoxin reductase and the relation to induction of apoptosis in human cancer cells
-
Mar 3
-
Cenas N., Prast S., Nivinskas H., Sarlauskas J., and Arner E.S. Interactions of nitroaromatic compounds with the mammalian selenoprotein thioredoxin reductase and the relation to induction of apoptosis in human cancer cells. J. Biol. Chem. 281 9 (2006) 5593-5603 Mar 3
-
(2006)
J. Biol. Chem.
, vol.281
, Issue.9
, pp. 5593-5603
-
-
Cenas, N.1
Prast, S.2
Nivinskas, H.3
Sarlauskas, J.4
Arner, E.S.5
-
75
-
-
0347600941
-
Regulation of the mammalian selenoprotein thioredoxin reductase 1 in relation to cellular phenotype, growth, and signaling events
-
Rundlof A.K., and Arner E.S. Regulation of the mammalian selenoprotein thioredoxin reductase 1 in relation to cellular phenotype, growth, and signaling events. Antioxid. Redox Signal. 6 (2004) 41-52
-
(2004)
Antioxid. Redox Signal.
, vol.6
, pp. 41-52
-
-
Rundlof, A.K.1
Arner, E.S.2
-
76
-
-
0034928729
-
Mammalian selenium-containing proteins
-
Behne D., and Kyriakopoulos A. Mammalian selenium-containing proteins. Annu. Rev. Nutr. 21 (2001) 453-473
-
(2001)
Annu. Rev. Nutr.
, vol.21
, pp. 453-473
-
-
Behne, D.1
Kyriakopoulos, A.2
-
77
-
-
0034847943
-
A model for Sec incorporation with the regions upstream of the UGA Sec codon to play a key role
-
Goto C., Osaka T., and Mizutani T. A model for Sec incorporation with the regions upstream of the UGA Sec codon to play a key role. Biofactors 14 (2001) 25-35
-
(2001)
Biofactors
, vol.14
, pp. 25-35
-
-
Goto, C.1
Osaka, T.2
Mizutani, T.3
-
78
-
-
0033760532
-
SBP, SECIS binding protein, binds to the RNA fragment upstream of the Sec UGA codon in glutathione peroxidase mRNA
-
Mizutani T., and Fujiwara T. SBP, SECIS binding protein, binds to the RNA fragment upstream of the Sec UGA codon in glutathione peroxidase mRNA. Mol. Biol. Rep. 27 (2000) 99-105
-
(2000)
Mol. Biol. Rep.
, vol.27
, pp. 99-105
-
-
Mizutani, T.1
Fujiwara, T.2
-
79
-
-
27644506592
-
Insights into the hierarchy of selenium incorporation
-
Berry M.J. Insights into the hierarchy of selenium incorporation. Nat. Genet. 11 (2005) 1162-1163
-
(2005)
Nat. Genet.
, vol.11
, pp. 1162-1163
-
-
Berry, M.J.1
-
80
-
-
27644590509
-
Mutations in SECISBP2 result in abnormal thyroid hormone synthesis
-
Dumitrescu A.M., Liao X.-H., Abdullah M.S., et al. Mutations in SECISBP2 result in abnormal thyroid hormone synthesis. Nat. Genet. 11 (2005) 1247-1252
-
(2005)
Nat. Genet.
, vol.11
, pp. 1247-1252
-
-
Dumitrescu, A.M.1
Liao, X.-H.2
Abdullah, M.S.3
-
81
-
-
0141891099
-
Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter
-
Friesema E.C., Ganguly A., Abdalla A., Manning J., Fox E., Halestrap A.P., et al. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. J. Biol. Chem. 278 (2003) 40128-40135
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 40128-40135
-
-
Friesema, E.C.1
Ganguly, A.2
Abdalla, A.3
Manning, J.4
Fox, E.5
Halestrap, A.P.6
-
82
-
-
0347634343
-
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene
-
Dumitrescu A.M., Liao X.H., Best T.B., Brockmann K., and Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am. J. Hum. Genet. 74 (2004) 168-175
-
(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
Refetoff, S.5
-
83
-
-
0022998995
-
The c-erb-A gene encodes a thyroid hormone receptor
-
Weinberger C., Thompson C.C., Ong E.S., Lebo R., Gruol D.J., and Evans R.M. The c-erb-A gene encodes a thyroid hormone receptor. Nature 324 (1986) 641-646
-
(1986)
Nature
, vol.324
, pp. 641-646
-
-
Weinberger, C.1
Thompson, C.C.2
Ong, E.S.3
Lebo, R.4
Gruol, D.J.5
Evans, R.M.6
-
84
-
-
0012473279
-
The nuclear receptor superfamily: the second decade
-
Mangelsdorf D.J., Thummel C., Beato M., et al. The nuclear receptor superfamily: the second decade. Cell 83 (1995) 835-839
-
(1995)
Cell
, vol.83
, pp. 835-839
-
-
Mangelsdorf, D.J.1
Thummel, C.2
Beato, M.3
-
85
-
-
0037308537
-
Resistance to thyroid hormone with and without receptor gene mutations
-
Refetoff S. Resistance to thyroid hormone with and without receptor gene mutations. Ann. Endocrinol. (Paris). 64 (2003) 23-25
-
(2003)
Ann. Endocrinol. (Paris).
, vol.64
, pp. 23-25
-
-
Refetoff, S.1
-
86
-
-
18144441149
-
The T3R alpha gene encoding a thyroid hormone receptor is essential for post-natal development and thyroid hormone production
-
Fraichard A., Chassande O., Plateroti M., et al. The T3R alpha gene encoding a thyroid hormone receptor is essential for post-natal development and thyroid hormone production. EMBO J. 16 (1997) 4412-4420
-
(1997)
EMBO J.
, vol.16
, pp. 4412-4420
-
-
Fraichard, A.1
Chassande, O.2
Plateroti, M.3
-
87
-
-
8244235128
-
A novel mechanism for isolated central hypothyroidism: Inactivating mutations in the thyrotropin-releasing hormone receptor gene
-
Collu R., Tang J., Castagné J., et al. A novel mechanism for isolated central hypothyroidism: Inactivating mutations in the thyrotropin-releasing hormone receptor gene. J. Clin. Endocrinol. Metabol. 82 (1997) 1361-1365
-
(1997)
J. Clin. Endocrinol. Metabol.
, vol.82
, pp. 1361-1365
-
-
Collu, R.1
Tang, J.2
Castagné, J.3
-
88
-
-
0025160821
-
Deoxyribonucleic acid analysis of five families with familial inherited thyroid stimulating hormone deficiency
-
Hayashizaki Y., Hiraoka Y., Tatsunin K., et al. Deoxyribonucleic acid analysis of five families with familial inherited thyroid stimulating hormone deficiency. J. Clin. Endocrinol. Metabol. 71 (1990) 792-796
-
(1990)
J. Clin. Endocrinol. Metabol.
, vol.71
, pp. 792-796
-
-
Hayashizaki, Y.1
Hiraoka, Y.2
Tatsunin, K.3
-
89
-
-
0025356512
-
Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene
-
Dacou-Voutetakis C., Feltquate D.M., Drakopoulou M., Kourides I.A., and Dracopoli N.C. Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene. Am. J. Hum. Genet. 46 (1990) 988-993
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 988-993
-
-
Dacou-Voutetakis, C.1
Feltquate, D.M.2
Drakopoulou, M.3
Kourides, I.A.4
Dracopoli, N.C.5
-
90
-
-
4344632891
-
Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism
-
Sep
-
Djemli A., Fillion M., Belgoudi J., et al. Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism. Clin. Biochem. 37 9 (2004) 818-822 Sep
-
(2004)
Clin. Biochem.
, vol.37
, Issue.9
, pp. 818-822
-
-
Djemli, A.1
Fillion, M.2
Belgoudi, J.3
-
91
-
-
0035140312
-
Relationship of etiology to treatment in congenital hypothyroidism
-
Hanukoglu A., Perlman K., Shamis I., et al. Relationship of etiology to treatment in congenital hypothyroidism. J. Clin. Endocrinol. Metab. 86 1 (2001) 186-191
-
(2001)
J. Clin. Endocrinol. Metab.
, vol.86
, Issue.1
, pp. 186-191
-
-
Hanukoglu, A.1
Perlman, K.2
Shamis, I.3
|