-
1
-
-
14644405321
-
Relatório de Actividades em 2003, do programa Nacional de Diagnóstico, Precoce
-
Instituto de Genética Médica Dr. Jacinto de Magalhães. (www.diagnosticoprecoce.org/divulgacao.htm)
-
Relatório de Actividades em 2003, do programa Nacional de Diagnóstico, Precoce. Instituto de Genética Médica Dr. Jacinto de Magalhães. (www.diagnosticoprecoce.org /divulgacao.htm).
-
-
-
-
3
-
-
0026474438
-
Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter
-
Abramowicz MJ, Targovnik HM, Varela V, Cochaux P, Krawiec L, Pisarev MA, Propato PV, Juvenal G, Chester HA & Vassart G. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. Journal of Clinical Investigation 1992 90 1200-1204.
-
(1992)
Journal of Clinical Investigation
, vol.90
, pp. 1200-1204
-
-
Abramowicz, M.J.1
Targovnik, H.M.2
Varela, V.3
Cochaux, P.4
Krawiec, L.5
Pisarev, M.A.6
Propato, P.V.7
Juvenal, G.8
Chester, H.A.9
Vassart, G.10
-
4
-
-
84995853515
-
A 20 basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism
-
Bikker H, den Hartog MT, Baas F, Gons MH, Vulsma T & de Vijlder JJ. A 20 basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism. Journal of Clinical Endocrinology and Metabolism 1994 79 248-252.
-
(1994)
Journal of Clinical Endocrinology and Metabolism
, vol.79
, pp. 248-252
-
-
Bikker, H.1
den Hartog, M.T.2
Baas, F.3
Gons, M.H.4
Vulsma, T.5
de Vijlder, J.J.6
-
5
-
-
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. Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. Human Mutation 1995 6 9-16.
-
(1995)
Human Mutation
, vol.6
, pp. 9-16
-
-
Bikker, H.1
Vulsma, T.2
Baas, F.3
de Vijlder, J.J.M.4
-
7
-
-
0031025824
-
Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects
-
Bikker H, Baas F & de Vijlder JJM. Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects. Journal of Clinical Endocrinology and Metabolism 1997 82 649-653.
-
(1997)
Journal of Clinical Endocrinology and Metabolism
, vol.82
, pp. 649-653
-
-
Bikker, H.1
Baas, F.2
de Vijlder, J.J.M.3
-
9
-
-
0032974611
-
A novel mutation in human thyroid peroxidase gene resulting in total organification defect
-
Kotani T, Umeki K, Yamamoto I, Maesaka H, Tachibana K & Ohtaki S. A novel mutation in human thyroid peroxidase gene resulting in total organification defect. Journal of Endocrinology 1999 160 267-273.
-
(1999)
Journal of Endocrinology
, vol.160
, pp. 267-273
-
-
Kotani, T.1
Umeki, K.2
Yamamoto, I.3
Maesaka, H.4
Tachibana, K.5
Ohtaki, S.6
-
10
-
-
0032768958
-
A novel mutation in TPO gene in goitrous hypothyroid patients with iodide organification defect
-
Santos CL, Bikker H, Rego KGM, Nascimento AC, Tambascia M, de Vijlder JJM & Medeiros-Neto G. A novel mutation in TPO gene in goitrous hypothyroid patients with iodide organification defect. Clinical Endocrinology 1999 51 165-172.
-
(1999)
Clinical Endocrinology
, vol.51
, pp. 165-172
-
-
Santos, C.L.1
Bikker, H.2
Rego, K.G.M.3
Nascimento, A.C.4
Tambascia, M.5
de Vijlder, J.J.M.6
Medeiros-Neto, G.7
-
11
-
-
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 Randamie JS, 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). Journal of Clinical Endocrinology and Metabolism 2000 85 3708-3712.
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, vol.85
, pp. 3708-3712
-
-
Bakker, B.1
Bikker, H.2
Vulsma, T.3
de Randamie, J.S.4
Wiedijk, B.M.5
de Vijlder, J.J.M.6
-
12
-
-
0034913353
-
Novel mutations of thyroid peroxidase gene in patients with permanent congenital hypothyroidism
-
Ambrugger P, Stoeva I, Biebermann H, Torresani T, Leitner C & Gruters A. Novel mutations of thyroid peroxidase gene in patients with permanent congenital hypothyroidism. European Journal of Endocrinology 2001 145 19-24.
-
(2001)
European Journal of Endocrinology
, vol.145
, pp. 19-24
-
-
Ambrugger, P.1
Stoeva, I.2
Biebermann, H.3
Torresani, T.4
Leitner, C.5
Gruters, A.6
-
13
-
-
0036231997
-
Two novel missense mutations in thyroid peroxidase gene, R665W and G771R, result in localization defect and cause congenital hypothyroidism
-
Umeki K, Kotani T, Kawano, J, Suganuma T, Yamamoto I, Aratake Y, Furujo M & Ichiba Y. Two novel missense mutations in thyroid peroxidase gene, R665W and G771R, result in localization defect and cause congenital hypothyroidism. European Journal of Endocrinology 2002 146 491-498.
-
(2002)
European Journal of Endocrinology
, vol.146
, pp. 491-498
-
-
Umeki, K.1
Kotani, T.2
Kawano, J.3
Suganuma, T.4
Yamamoto, I.5
Aratake, Y.6
Furujo, M.7
Ichiba, Y.8
-
14
-
-
0036738454
-
High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect
-
Niu DM, Hwang B, Chu YK, Liao CJ, Wang PL & Lin CY. High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect. Journal of Clinical Endocrinology and Metabolism 2002 87 4208-4212.
-
(2002)
Journal of Clinical Endocrinology and Metabolism
, vol.87
, pp. 4208-4212
-
-
Niu, D.M.1
Hwang, B.2
Chu, Y.K.3
Liao, C.J.4
Wang, P.L.5
Lin, C.Y.6
-
15
-
-
0036120080
-
Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: Identification of five novel mutations
-
Wu JY, Shu SG, Yang CF, Lee CC & Tsai FJ. Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations. Journal of Endocrinology 2002 172 627-635.
-
(2002)
Journal of Endocrinology
, vol.172
, pp. 627-635
-
-
Wu, J.Y.1
Shu, S.G.2
Yang, C.F.3
Lee, C.C.4
Tsai, F.J.5
-
16
-
-
2042500693
-
Human thyroid peroxidase: Complete cDNA and protein sequence, chromosome mapping, and identification of two alternative spliced mRNAs
-
Kimura S, Kotani T, Mcbride OW, Umeki K, Hirai K, Nakayama T & Ohtaki S. Human thyroid peroxidase: complete cDNA and protein sequence, chromosome mapping, and identification of two alternative spliced mRNAs. PNAS 1987 84 5555-5559.
-
(1987)
PNAS
, vol.84
, pp. 5555-5559
-
-
Kimura, S.1
Kotani, T.2
Mcbride, O.W.3
Umeki, K.4
Hirai, K.5
Nakayama, T.6
Ohtaki, S.7
-
17
-
-
0028969799
-
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 25 760-761.
-
(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
-
18
-
-
0031156646
-
Congenital hypothyroidism caused by a mutation in the Na + /I - Symporter
-
Fujiwara H, Tatsumi K, Miki K, Harada T, Miyai K, Takai S & Amino N. Congenital hypothyroidism caused by a mutation in the Na + /I - symporter. Nature Genetics 1997 16 124-125.
-
(1997)
Nature Genetics
, vol.16
, pp. 124-125
-
-
Fujiwara, H.1
Tatsumi, K.2
Miki, K.3
Harada, T.4
Miyai, K.5
Takai, S.6
Amino, N.7
-
19
-
-
7144261720
-
Molecular analysis of PDS in Pendred syndrome
-
Coyle B, Reardon W, Herbrik JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW & Trembath RC. Molecular analysis of PDS in Pendred syndrome. Human Molecular Genetics 1998 7 1105-1112.
-
(1998)
Human Molecular Genetics
, vol.7
, pp. 1105-1112
-
-
Coyle, B.1
Reardon, W.2
Herbrik, J.A.3
Tsui, L.C.4
Gausden, E.5
Lee, J.6
Coffey, R.7
Grueters, A.8
Grossman, A.9
Phelps, P.D.10
Luxon, L.11
Kendall-Taylor, P.12
Scherer, S.W.13
Trembath, R.C.14
-
20
-
-
0037063119
-
Inactivation mutations in gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism
-
Moreno JC, Bikker H, Kempers W, Trotsenburg P, Baas F, de Vijlder JJM, Vulsma T & Ris-Stalpers C. Inactivation mutations in gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. New England Journal of Medicine 2002 347 95-102.
-
(2002)
New England Journal of Medicine
, vol.347
, pp. 95-102
-
-
Moreno, J.C.1
Bikker, H.2
Kempers, W.3
Trotsenburg, P.4
Baas, F.5
de Vijlder, J.J.M.6
Vulsma, T.7
Ris-Stalpers, C.8
-
21
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD & Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research 1988 16 1215.
-
(1988)
Nucleic Acids Research
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
23
-
-
0027404334
-
Nucleotide sequence of the cDNA encoding mouse thyroid peroxidase
-
Kotani T, Umeki K, Yamamoto I, Takeuchi M, Takeuchi S, Nakayama T & Ohtaki S. Nucleotide sequence of the cDNA encoding mouse thyroid peroxidase. Gene 1993 123 289-290.
-
(1993)
Gene
, vol.123
, pp. 289-290
-
-
Kotani, T.1
Umeki, K.2
Yamamoto, I.3
Takeuchi, M.4
Takeuchi, S.5
Nakayama, T.6
Ohtaki, S.7
-
24
-
-
0024419177
-
Complete nucleotide sequence of the cDNA for thyroid peroxidase in FRTL5 rat thyroid cells
-
Derwahl M, Seto P & Rapoport B. Complete nucleotide sequence of the cDNA for thyroid peroxidase in FRTL5 rat thyroid cells. Nucleic Acids Research 1989 17 8380.
-
(1989)
Nucleic Acids Research
, vol.17
, pp. 8380
-
-
Derwahl, M.1
Seto, P.2
Rapoport, B.3
-
25
-
-
0023123966
-
Characterization of cDNA clones of human myeloperoxidase: Predicted amino acid sequence and evidence for multiple mRNA species
-
Johnson KR, Nauseef WM, Care A, Wheelock MJ, Shane S, Hudson S, Koeffler HP, Selsted M, Miller C & Rovera G. Characterization of cDNA clones of human myeloperoxidase: predicted amino acid sequence and evidence for multiple mRNA species. Nucleic Acids Research 1987 15 2013-2028.
-
(1987)
Nucleic Acids Research
, vol.15
, pp. 2013-2028
-
-
Johnson, K.R.1
Nauseef, W.M.2
Care, A.3
Wheelock, M.J.4
Shane, S.5
Hudson, S.6
Koeffler, H.P.7
Selsted, M.8
Miller, C.9
Rovera, G.10
-
26
-
-
0025162365
-
Molecular cloning of cDNAs encoding bovine and human lactoperoxidase
-
Dull T, Oyeda C, Strosberg D, Nedwin G & Seilhamer J. Molecular cloning of cDNAs encoding bovine and human lactoperoxidase. DNA and Cell Biology 1990 1 499-509.
-
(1990)
DNA and Cell Biology
, vol.1
, pp. 499-509
-
-
Dull, T.1
Oyeda, C.2
Strosberg, D.3
Nedwin, G.4
Seilhamer, J.5
-
27
-
-
0024447808
-
Molecular cloning and characterization of chromosomal gene for human eosinophil peroxidase
-
Sakamaki K, Tomonaga M, Tsukui K & Nagata S. Molecular cloning and characterization of chromosomal gene for human eosinophil peroxidase. Journal of Biological Chemistry 1989 264 16828-16836.
-
(1989)
Journal of Biological Chemistry
, vol.264
, pp. 16828-16836
-
-
Sakamaki, K.1
Tomonaga, M.2
Tsukui, K.3
Nagata, S.4
-
28
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
-
Krawczak M, Reiss J & Cooper D. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Human Genetics 1992 90 41-54.
-
(1992)
Human Genetics
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.3
-
29
-
-
0002442096
-
Hormone synthesis: Thyroid iodine metabolism
-
edn 8, ch. 4, Eds LE Braverman & RD Utiger. Philadelphia: Lippincott Williams & Wilkins
-
Taurog A. Hormone synthesis: thyroid iodine metabolism. In Werner and Ingbar's The Thyroid, edn 8, part 1, ch. 4, pp 63-64. Eds LE Braverman & RD Utiger. Philadelphia: Lippincott Williams & Wilkins, 2000.
-
(2000)
Werner and Ingbar's The Thyroid
, Issue.PART 1
, pp. 63-64
-
-
Taurog, A.1
-
30
-
-
0031764940
-
Human thyroperoxidase is largely retained and rapidly degraded in the endoplasmic reticulum. Its N-glycans are required for folding and intracellular trafficking
-
Fayadat L, Niccoli-Sire P, Lanet J & Franc JL. Human thyroperoxidase is largely retained and rapidly degraded in the endoplasmic reticulum. Its N-glycans are required for folding and intracellular trafficking. Endocrinology 1998 139 4277-4285.
-
(1998)
Endocrinology
, vol.139
, pp. 4277-4285
-
-
Fayadat, L.1
Niccoli-Sire, P.2
Lanet, J.3
Franc, J.L.4
-
31
-
-
0000093674
-
Modeling dependencies in pre-mRNA splicing signals
-
Eds S Salzberg, D Searls & S Kasif. Amsterdam: Elsevier Science
-
Burge CB. Modeling dependencies in pre-mRNA splicing signals. In Computational Methods in Molecular Biology, pp 127-163. Eds S Salzberg, D Searls & S Kasif. Amsterdam: Elsevier Science, 1998.
-
(1998)
Computational Methods in Molecular Biology
, pp. 127-163
-
-
Burge, C.B.1
|