-
2
-
-
0030060625
-
Outcome of severe congenital hypothyroidism: Closing the developmental gap with early high dose levothyroxine treatment
-
Dubuis JM, Glorieux J, Richer F, Deal CL, Dussault JH, Van Vliet G. 1996 Outcome of severe congenital hypothyroidism: closing the developmental gap with early high dose levothyroxine treatment. J Clin Endocrinol Metab. 81:222-227.
-
(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
-
3
-
-
0028888593
-
Brief report: Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene
-
Sunthornthepvarakul T, Gottschalk M, Hayashi Y, Refetoff S. 1995 Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med. 332:155-60.
-
(1995)
N Engl J Med.
, vol.332
, pp. 155-160
-
-
Sunthornthepvarakul, T.1
Gottschalk, M.2
Hayashi, Y.3
Refetoff, S.4
-
4
-
-
10544240361
-
Four families with loss-of-function mutations of the thyrotropin receptor
-
De Roux N, Misrahi R, Brauner R, et al. 1996 Four families with loss-of-function mutations of the thyrotropin receptor. J Clin Endocrinol Metab. 81:4229-4235.
-
(1996)
J Clin Endocrinol Metab.
, vol.81
, pp. 4229-4235
-
-
De Roux, N.1
Misrahi, R.2
Brauner, R.3
-
5
-
-
0030983833
-
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism
-
Biebermann H, Schöneberg T, Krude H, Schultz G, Gudermann T, Grüters A. 1997 Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab. 82:3471-3480.
-
(1997)
J Clin Endocrinol Metab.
, vol.82
, pp. 3471-3480
-
-
Biebermann, H.1
Schöneberg, T.2
Krude, H.3
Schultz, G.4
Gudermann, T.5
Grüters, A.6
-
6
-
-
0030989828
-
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH
-
Clifton-Bligh RJ, Gregory JW, Ludgate M, et al. 1997 Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. J Clin Endocrinol Metab. 82:1094-1100.
-
(1997)
J Clin Endocrinol Metab.
, vol.82
, pp. 1094-1100
-
-
Clifton-Bligh, R.J.1
Gregory, J.W.2
Ludgate, M.3
-
7
-
-
0030994365
-
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
-
Abramovicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C. 1997 Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest. 99:3018-3024.
-
(1997)
J Clin Invest.
, vol.99
, pp. 3018-3024
-
-
Abramovicz, M.J.1
Duprez, L.2
Parma, J.3
Vassart, G.4
Heinrichs, C.5
-
8
-
-
0025048165
-
The value of neonatal serum thyroglobulin determinations in the follow-up of patients with congenital hypothyroidism
-
Ilicki A, Ericsson U-B, Larsson A, Mortensson W, Thorell J. 1990 The value of neonatal serum thyroglobulin determinations in the follow-up of patients with congenital hypothyroidism. Acta Pediatr Scand. 79:769-775.
-
(1990)
Acta Pediatr Scand.
, vol.79
, pp. 769-775
-
-
Ilicki, A.1
Ericsson, U.-B.2
Larsson, A.3
Mortensson, W.4
Thorell, J.5
-
9
-
-
0014425946
-
Congenital hypothyroidism with impaired thyroid response to thyrotropin
-
Stanbury JB, Rocmans P, Buhler UK, and Ochi Y. 1968 Congenital hypothyroidism with impaired thyroid response to thyrotropin. N Engl J Med. 279:1132-1136.
-
(1968)
N Engl J Med.
, vol.279
, pp. 1132-1136
-
-
Stanbury, J.B.1
Rocmans, P.2
Buhler, U.K.3
Ochi, Y.4
-
10
-
-
0024806929
-
Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: Evidence for binding of autoantibodies
-
Libert F, Lefort A, Gerard C, et al. 1989 Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: evidence for binding of autoantibodies. Biochem Biophys Res Commun. 165:1250-1255.
-
(1989)
Biochem Biophys Res Commun.
, vol.165
, pp. 1250-1255
-
-
Libert, F.1
Lefort, A.2
Gerard, C.3
-
11
-
-
0024852495
-
Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor
-
Nagayama Y, Kaufman KD, Seto P, Rapoport B. 1989 Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor. Biochem Biophys Res Commun. 165:1184-1190.
-
(1989)
Biochem Biophys Res Commun.
, vol.165
, pp. 1184-1190
-
-
Nagayama, Y.1
Kaufman, K.D.2
Seto, P.3
Rapoport, B.4
-
12
-
-
0029360448
-
Somatic and germline mutations of the TSH receptor gene in thyroid diseases
-
Van Sande J, Parma J, Tonacchera M, Swillens S, Dumont J, Vassart G. 1995 Somatic and germline mutations of the TSH receptor gene in thyroid diseases. J Clin Endocrinol Metab. 80:2577-2585.
-
(1995)
J Clin Endocrinol Metab.
, vol.80
, pp. 2577-2585
-
-
Van Sande, J.1
Parma, J.2
Tonacchera, M.3
Swillens, S.4
Dumont, J.5
Vassart, G.6
-
13
-
-
0025321246
-
Splice junctions, branch point sites, and exons: Sequence statistics, identification, and applications to the genome project
-
Senapathy S, Shapiro MB, Harris NL. 1990 Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to the genome project. Methods Enzymol. 183:252-283.
-
(1990)
Methods Enzymol.
, vol.183
, pp. 252-283
-
-
Senapathy, S.1
Shapiro, M.B.2
Harris, N.L.3
-
14
-
-
0030909661
-
Altered mRNA expression due to insertion or substitution of thymine at position +3 of two splice donor-sites in the androgen receptor gene
-
Trifiro MA, Lumbroso R, Beitel LK, et al. 1997 Altered mRNA expression due to insertion or substitution of thymine at position +3 of two splice donor-sites in the androgen receptor gene. Eur J Hum Genet. 5:50-58.
-
(1997)
Eur J Hum Genet.
, vol.5
, pp. 50-58
-
-
Trifiro, M.A.1
Lumbroso, R.2
Beitel, L.K.3
-
15
-
-
0029645408
-
Modeling of the three-dimensional structure of proteins with the typical leucine-rich repeats
-
Kajava AV, Vassart G, and Wodak SJ. 1995 Modeling of the three-dimensional structure of proteins with the typical leucine-rich repeats. Structure. 3:867-877.
-
(1995)
Structure
, vol.3
, pp. 867-877
-
-
Kajava, A.V.1
Vassart, G.2
Wodak, S.J.3
-
16
-
-
0026568620
-
The thyrotropin receptor 25 years after its discovery: New insight after its molecular cloning
-
Nagayama Y, Rapoport B. 1992 The thyrotropin receptor 25 years after its discovery: new insight after its molecular cloning. Mol Endocrinol. 6:145-156.
-
(1992)
Mol Endocrinol.
, vol.6
, pp. 145-156
-
-
Nagayama, Y.1
Rapoport, B.2
-
18
-
-
0020647088
-
Plasma thyroglobulin measurements help determine the type of thyroid defect in congenital hypothyroidism
-
Czernichow P, Schlumberger M, Pomarede R, Fragu P. 1983 Plasma thyroglobulin measurements help determine the type of thyroid defect in congenital hypothyroidism. J Clin Endocrinol Metab. 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
-
19
-
-
0028939561
-
Measurement of thyroglobulin in newborn screening specimens from normal and hypothyroid infants
-
Oxf
-
Mitchell ML, Hermos RJ. 1995 Measurement of thyroglobulin in newborn screening specimens from normal and hypothyroid infants. Clin Endocrinol (Oxf). 42:523-527.
-
(1995)
Clin Endocrinol
, vol.42
, pp. 523-527
-
-
Mitchell, M.L.1
Hermos, R.J.2
-
20
-
-
0002563737
-
Thyroid Disorders
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Vassart G, Dumont JE, Refetoff S. 1995 Thyroid Disorders In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease, 7th ed. New York: McGraw-Hill; 2883-2928.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease, 7th Ed.
, pp. 2883-2928
-
-
Vassart, G.1
Dumont, J.E.2
Refetoff, S.3
-
21
-
-
0028040502
-
Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness
-
Takeshita A, Nagayama Y, Yamashita S, et al. 1994 Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness. Thyroid. 4:255-259.
-
(1994)
Thyroid
, vol.4
, pp. 255-259
-
-
Takeshita, A.1
Nagayama, Y.2
Yamashita, S.3
-
22
-
-
9844223914
-
Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH
-
Xie J, Pannain S, Pohlenz J, et al. 1997 Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH. J Clin Endocrinol Metab. 82:3933-3940.
-
(1997)
J Clin Endocrinol Metab.
, vol.82
, pp. 3933-3940
-
-
Xie, J.1
Pannain, S.2
Pohlenz, J.3
-
23
-
-
0022469774
-
Transient neonatal "athyreosis" resulting from thyrotropin-binding inhibitory immunoglobulins
-
Connors MH, Styne DM. 1986 Transient neonatal "athyreosis" resulting from thyrotropin-binding inhibitory immunoglobulins. Pediatrics. 78:287-290.
-
(1986)
Pediatrics
, vol.78
, pp. 287-290
-
-
Connors, M.H.1
Styne, D.M.2
-
24
-
-
0030735539
-
A homozygous missense mutation of the sodium/ iodide symporter gene causing iodide transport defect
-
Matsuda A, Kosugi S. 1997 A homozygous missense mutation of the sodium/ iodide symporter gene causing iodide transport defect. J Clin Endocrinol Metab. 82:3966-3971.
-
(1997)
J Clin Endocrinol Metab.
, vol.82
, pp. 3966-3971
-
-
Matsuda, A.1
Kosugi, S.2
-
25
-
-
0028266582
-
Etiological grouping of permanent congenital hypothyroidism with a thyroid gland in situ
-
Grüters A, Finke R, Krude H, Meinhold H. 1994 Etiological grouping of permanent congenital hypothyroidism with a thyroid gland in situ. Horm Res. 41:3-9.
-
(1994)
Horm Res.
, vol.41
, pp. 3-9
-
-
Grüters, A.1
Finke, R.2
Krude, H.3
Meinhold, H.4
-
26
-
-
0031037078
-
Genetic and linkage analysis of familial congenital hypothyroidism: Exclusion of linkage to the TSH receptor gene
-
Ahlbom BD, Yaqoob M, Larsson A, Ilicki A, Anneren G, Wadelius C. 1997 Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene. Hum Genet. 99:186-190.
-
(1997)
Hum Genet.
, vol.99
, pp. 186-190
-
-
Ahlbom, B.D.1
Yaqoob, M.2
Larsson, A.3
Ilicki, A.4
Anneren, G.5
Wadelius, C.6
-
27
-
-
0030839127
-
Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis
-
Pema MG, Civitareale D, De Filippis, Sacco M, Cisternino C, Tassi V. 1997 Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis. Thyroid. 7:377-382.
-
(1997)
Thyroid
, vol.7
, pp. 377-382
-
-
Pema, M.G.1
Civitareale, D.2
De Filippis3
Sacco, M.4
Cisternino, C.5
Tassi, V.6
-
28
-
-
12644283550
-
Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis
-
Lapi P, Macchia PE, Chiovato L, et al. 1997 Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis. Thyroid. 7:383-387.
-
(1997)
Thyroid
, vol.7
, pp. 383-387
-
-
Lapi, P.1
Macchia, P.E.2
Chiovato, L.3
-
29
-
-
0344279502
-
Identification of a mutation in the PAX-8 gene in a patient with thyroid ectopy
-
Abstract
-
Macchia PE, Lapi P, Chiovato L, Busslinger M, Fenzi GF, Di Lauro R. 1997 Identification of a mutation in the PAX-8 gene in a patient with thyroid ectopy. J Endocrinol Invest. 20[Suppl to no. 5]:84 (Abstract).
-
(1997)
J Endocrinol Invest.
, vol.20
, Issue.5 SUPPL.
, pp. 84
-
-
Macchia, P.E.1
Lapi, P.2
Chiovato, L.3
Busslinger, M.4
Fenzi, G.F.5
Di Lauro, R.6
-
30
-
-
0031154933
-
Probing the cause of thyroid dysgenesis
-
Abramowicz M, Vassart G, Refetoff S. 1997 Probing the cause of thyroid dysgenesis (editorial). Thyroid. 7:325-326.
-
(1997)
Thyroid
, vol.7
, pp. 325-326
-
-
Abramowicz, M.1
Vassart, G.2
Refetoff, S.3
|