-
1
-
-
0027205113
-
Newborn screening for congenital hypothyroidism: Recommended guidelines
-
AAP Section on Endocrinology, Committee on Genetics, American Thyroid Association Committee on Public Health A. 1993 Newborn screening for congenital hypothyroidism: recommended guidelines. Pediatrics. 91:1203-1209
-
(1993)
Pediatrics
, vol.91
, pp. 1203-1209
-
-
-
2
-
-
0345647163
-
Congenital hypothyroidism
-
Grüters A. 1992 Congenital hypothyroidism. Pediatr Ann. 21:24-28
-
(1992)
Pediatr Ann.
, vol.21
, pp. 24-28
-
-
Grüters, A.1
-
3
-
-
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. New York: McGraw-Hill; 2883-2928
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 2883-2928
-
-
Vassart, G.1
Dumont, J.E.2
Refetoff, S.3
-
4
-
-
0030053759
-
Cloning and characterization of the thyroid iodide transporter
-
Dai G, Levy O, Carrasco N. 1996 Cloning and characterization of the thyroid iodide transporter. Nature. 379:458-460
-
(1996)
Nature
, vol.379
, pp. 458-460
-
-
Dai, G.1
Levy, O.2
Carrasco, N.3
-
5
-
-
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 IM, Weiss RE, Jhiang SM, Burant C, Refetoff S. 1998 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. 101:1028-1035
-
(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
-
6
-
-
0026474438
-
Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter
-
Abramowicz MJ, Targovnik HM, Varela V, et al. 1992 Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J Clin Invest. 90:1200-1204
-
(1992)
J Clin Invest.
, vol.90
, pp. 1200-1204
-
-
Abramowicz, M.J.1
Targovnik, H.M.2
Varela, V.3
-
7
-
-
0029039137
-
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. 1995 Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. Hum Mutat. 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
-
8
-
-
0030013089
-
Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene
-
Bikker H, Waelkens JJJ, Bravenboer B, de Vijlder JJM. 1996 Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene. J Clin Endocrinol Metab. 81:2076-2079
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 2076-2079
-
-
Bikker, H.1
Waelkens, J.J.J.2
Bravenboer, B.3
De Vijlder, J.J.M.4
-
9
-
-
0016564672
-
5 reductase activity in nontoxic goiter with iodide organification defect
-
5 reductase activity in nontoxic goiter with iodide organification defect. Metabolism. 24:1103-1113
-
(1975)
Metabolism.
, vol.24
, pp. 1103-1113
-
-
Kusakabe, T.1
-
11
-
-
0015450391
-
A goitrous subject with structural abnormality of thyroglobulin
-
Kusakabe T. 1972 A goitrous subject with structural abnormality of thyroglobulin. J Clin Endocrinol Metab. 35:785-794
-
(1972)
J Clin Endocrinol Metab
, vol.35
, pp. 785-794
-
-
Kusakabe, T.1
-
12
-
-
84995842119
-
A goitrous subject with defective synthesis of diiodityrosine due to thyroglobulin abnormalities
-
Kusakabe T. 1973 A goitrous subject with defective synthesis of diiodityrosine due to thyroglobulin abnormalities. J Clin Endocrinol Metab. 37:317-325
-
(1973)
J Clin Endocrinol Metab
, vol.37
, pp. 317-325
-
-
Kusakabe, T.1
-
13
-
-
16944366606
-
Pendred syndrome is caused by mutations in a putative sulphate transport gene (PDS)
-
Everett LA, Glaser B, Beck JC, et al. 1997 Pendred syndrome is caused by mutations in a putative sulphate transport gene (PDS). Nat Genet. 17:411-422
-
(1997)
Nat Genet.
, vol.17
, pp. 411-422
-
-
Everett, L.A.1
Glaser, B.2
Beck, J.C.3
-
15
-
-
0013626948
-
Descendants of Johannes Schwartz
-
Schwartz AD. 1949 Descendants of Johannes Schwartz. Bern, IN: Family 231:1-243
-
(1949)
Bern, IN: Family
, vol.231
, pp. 1-243
-
-
Schwartz, A.D.1
-
17
-
-
0015189827
-
Serum tests for measurement of thyroid function
-
Robin NI, Hagen SR, Collaço F, Refetoff S, Selenkow HA. 1971 Serum tests for measurement of thyroid function. Hormones. 2:266-279
-
(1971)
Hormones.
, vol.2
, pp. 266-279
-
-
Robin, N.I.1
Hagen, S.R.2
Collaço, F.3
Refetoff, S.4
Selenkow, H.A.5
-
19
-
-
0345128844
-
Polymorphic DNA region adjacent to the 5′ end of the human insulin gene
-
Bell GI, Karam JH, Rutter WJ. 1981 Polymorphic DNA region adjacent to the 5′ end of the human insulin gene. Proc Natl Acad Sci USA. 78:5759-5763
-
(1981)
Proc Natl Acad Sci USA
, vol.78
, pp. 5759-5763
-
-
Bell, G.I.1
Karam, J.H.2
Rutter, W.J.3
-
20
-
-
0028000502
-
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
-
Sheffield VC, Carmi R, Kwitek-Black A, et al. 1994 Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet. 3:1331-1335
-
(1994)
Hum Mol Genet.
, vol.3
, pp. 1331-1335
-
-
Sheffield, V.C.1
Carmi, R.2
Kwitek-Black, A.3
-
21
-
-
0028865860
-
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps
-
Sheffield VC, Weber JL, Buetow KN, et al. 1995 A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet. 4:1837-1844
-
(1995)
Hum Mol Genet.
, vol.4
, pp. 1837-1844
-
-
Sheffield, V.C.1
Weber, J.L.2
Buetow, K.N.3
-
22
-
-
0025835296
-
Fast and sensitive silver staining of DNA in polyacrylamide gels
-
Bassam BJ, Caetano-Anolles G, Gresshoff PM. 1991 Fast and sensitive silver staining of DNA in polyacrylamide gels. Ann Biochem. 196:80-83
-
(1991)
Ann Biochem.
, vol.196
, pp. 80-83
-
-
Bassam, B.J.1
Caetano-Anolles, G.2
Gresshoff, P.M.3
-
23
-
-
0024375696
-
Structure of the human thyroid peroxidase gene: Comparison and relationship to the human myeloperoxidase gene
-
Kimura S, Hong YS, Kotani T, Ohtaki S, Kikkawa F. 1989 Structure of the human thyroid peroxidase gene: comparison and relationship to the human myeloperoxidase gene. Bioochemistry. 28:4481-4489
-
(1989)
Bioochemistry
, vol.28
, pp. 4481-4489
-
-
Kimura, S.1
Hong, Y.S.2
Kotani, T.3
Ohtaki, S.4
Kikkawa, F.5
-
28
-
-
0031025824
-
Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organisation defects
-
Bikker H, Baas F, De Vijlder JJM. 1997 Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organisation defects. J Clin Endocrinol Metab. 82:649-653
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 649-653
-
-
Bikker, H.1
Baas, F.2
De Vijlder, J.J.M.3
-
29
-
-
0002664648
-
Identification of two novel mutations in the TPO gene of patients with severe congenital hypothyroidism due to a total iodide organification defect-frequency of TPO inactivating mutations
-
Bikker H, Bakker E, Vulsma T, de Vijlder JJM. 1998 Identification of two novel mutations in the TPO gene of patients with severe congenital hypothyroidism due to a total iodide organification defect-frequency of TPO inactivating mutations [Abstract]. J Endocrinol Invest. 21(Suppl 4):82
-
(1998)
J Endocrinol Invest.
, vol.21
, Issue.SUPPL. 4
, pp. 82
-
-
Bikker, H.1
Bakker, E.2
Vulsma, T.3
De Vijlder, J.J.M.4
-
30
-
-
0023239442
-
Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
-
Lander ES, Botstein D. 1987 Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science. 236:1567-1570
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
31
-
-
0017414240
-
Biosynthesis of thyroid hormone: Basic and clinical aspects
-
DeGroot LJ, Niepomniszcze U. 1977 Biosynthesis of thyroid hormone: basic and clinical aspects. Metabolism. 26:665-718
-
(1977)
Metabolism
, vol.26
, pp. 665-718
-
-
Degroot, L.J.1
Niepomniszcze, U.2
-
33
-
-
0024490339
-
Monoamine oxidase activity and triiodothyronine biosynthesis in human cultured thyroid cells
-
Kraiem Z, Sadeh O, Youdim MBH. 1989 Monoamine oxidase activity and triiodothyronine biosynthesis in human cultured thyroid cells. Br J Pharmacol. 96:465-469
-
(1989)
Br J Pharmacol.
, vol.96
, pp. 465-469
-
-
Kraiem, Z.1
Sadeh, O.2
Youdim, M.B.H.3
-
35
-
-
0028851065
-
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
-
Carmi R, Rokhlina T, KwitekBlack AE, et al. 1995 Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet. 4:9-13
-
(1995)
Hum Mol Genet.
, vol.4
, pp. 9-13
-
-
Carmi, R.1
Rokhlina, T.2
Kwitekblack, A.E.3
-
36
-
-
0029925102
-
A cerebral ataxia locus identifed by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman islands
-
Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield VC. 1996 A cerebral ataxia locus identifed by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman islands. Hum Mol Genet. 5:525-531
-
(1996)
Hum Mol Genet.
, vol.5
, pp. 525-531
-
-
Nystuen, A.1
Benke, P.J.2
Merren, J.3
Stone, E.M.4
Sheffield, V.C.5
-
37
-
-
2042500693
-
Human thyroid peroxidase: Complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNA
-
Kimura S, Kotani T, McBride OW, et al. 1987 Human thyroid peroxidase: complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNA. Proc Natl Acad Sci USA. 84:5555-5559
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 5555-5559
-
-
Kimura, S.1
Kotani, T.2
McBride, O.W.3
-
38
-
-
0025364861
-
The mutational spectrum of single base-pair substitutions causing human genetic disease: Patterns and predictions
-
Cooper DN, Krawczak M. 1990 The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Genet. 85:55-74
-
(1990)
Hum Genet.
, vol.85
, pp. 55-74
-
-
Cooper, D.N.1
Krawczak, M.2
-
39
-
-
0021366157
-
Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
-
Barker D, Schafer M, White R. 1984 Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell. 36:131-138
-
(1984)
Cell
, vol.36
, pp. 131-138
-
-
Barker, D.1
Schafer, M.2
White, R.3
-
40
-
-
0027281426
-
Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor β gene: Analysis of 15 families
-
Weiss RE, Weinberg M, Refetoff S. 1993 Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor β gene: Analysis of 15 families. J Clin Invest. 91:2408-2415
-
(1993)
J Clin Invest.
, vol.91
, pp. 2408-2415
-
-
Weiss, R.E.1
Weinberg, M.2
Refetoff, S.3
-
41
-
-
0029655863
-
Multiple mutations in a specific gene in a small geographic area: A common phenomenon?
-
Zlotogora J, Gieselmann V, Bach G. 1996 Multiple mutations in a specific gene in a small geographic area: a common phenomenon? Am J Hum Genet. 58: 241-243
-
(1996)
Am J Hum Genet.
, vol.58
, pp. 241-243
-
-
Zlotogora, J.1
Gieselmann, V.2
Bach, G.3
|