Zobrazeno 1 - 10 of 19 pro vyhledávání: '"Gilberto K, Furuzawa"'
1
Akademický článek
Low iodine diet does not improve the efficacy of radioiodine for the treatment of Graves’ disease
Autor: Vanessa A. Santarosa, Denise M. Orlandi, Lia B. Fiorin, Teresa S. Kasamatsu, Gilberto K. Furuzawa, Ilda S. Kunii, Rosália P. Padovani, Marília M. S. Marone, Mário L. Castiglioni, José Gilberto H Vieira, Rui M. B. Maciel, Magnus R. Dias-da-Silva, João R. M. Martins
Publikováno v: Archives of Endocrinology and Metabolism, Vol 59, Iss 6, Pp 501-506 (2015)
Objective Consuming a low-iodine diet (LID) is a widely accepted practice before administering radioiodine (131I) to evaluate and to treat thyroid disease. Although this procedure is well established for the management of patients with differentiated
Externí odkaz: https://doaj.org/article/bb99c904bc8548bab2d66f9263facc1e
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2
DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland
Autor: Corinne Dupuy, Denise P. Carvalho, Magnus R. Dias-da-Silva, Jessica R Jara, Miguel Mitne-Neto, Rui M. B. Maciel, Suzana Nesi-França, Gilberto K. Furuzawa, Marina M. L. Kizys, Ruy A. N. Louzada
Publikováno v: Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2017, 102 (11), pp.4060-4071. ⟨10.1210/jc.2017-00832⟩
Context Thyroid dysgenesis (TD) is the leading cause of congenital hypothyroidism (CH). The etiology of TD remains unknown in ∼90% of cases, the most common form being thyroid ectopia (TE) (48% to 61%). Objective To search for candidate genes in hy
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c11f7bb8c0b073f7898f1f946dfd5141
https://doi.org/10.1210/jc.2017-00832
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3
M918V RET mutation causes familial medullary thyroid carcinoma: study of 8 affected kindreds
Autor: Gilberto K. Furuzawa, Cleber P. Camacho, M Cecília Martins-Costa, Magnus R. Dias-da-Silva, Lucas Leite Cunha, Renata P. Dotto, João Roberto Maciel Martins, Susan C. Lindsey, Rui M. B. Maciel, Márcio M Martins, M Sharmila A Sousa, Teresa S. Kasamatsu, Alberto L. Machado, Ilda S. Kunii
Publikováno v: Endocrine-Related Cancer. 23:909-920
Germline mutations in codon 918 of exon 16 of theRETgene (M918T) are classically associated with multiple endocrine neoplasia type 2B (MEN 2B) with highly aggressive medullary thyroid cancer (MTC), pheochromocytoma and a unique phenotype. The objecti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b703e9a4b4a6bd3107e6b746371d2c6b
https://doi.org/10.1530/erc-16-0141
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4
Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms
Autor: Manoel Arcisio-Miranda, Magnus R. Dias-da-Silva, Diego R. Mazzotti, Rolf Matias Paninka, Ilda S. Kunii, Angela Cristina Vidi, Marina M. L. Kizys, Gilberto K. Furuzawa, Silas P. Silva, Hélio Rodrigues
Publikováno v: Molecular Genetics and Genomics. 291:1535-1544
Next-generation sequencing (NGS) has enriched the understanding of the human genome. However, homologous or repetitive sequences shared among genes frequently produce dubious alignments and can puzzle NGS mutation analysis, especially for paralogous
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b1642f5231b6f9df44c05169908c8d2
https://doi.org/10.1007/s00438-016-1185-0
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5
A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families
Autor: Gilberto K. Furuzawa, André F. Reis, Joäo Guimaräes Ferreira, Fernando M. A. Giuffrida, Pedro Saddi-Rosa, Thais Della Manna, Magnus R. Dias-da-Silva, Luis Eduardo Calliari, Ilda S. Kunii
Publikováno v: Diabetes Research and Clinical Practice. 100:e42-e45
Six Brazilian families with mild familial hyperglycaemia have been screened for glucokinase (GCK) mutations. All had mutations that co-segregated with the phenotype. One of the mutations, the deletion 96_98delAAG (p.Lys32del), had not been previously
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7df4868c2226c53ef0c2d2a43e7ed52e
https://doi.org/10.1016/j.diabres.2013.01.029
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6
A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred
Autor: Eugenia Verônica Hernandez Orchard, Marina M. L. Kizys, Silvia R. Correa-Silva, Rafael Filipelli, Magnus R. Dias-da-Silva, David Santos Marco Antonio, Jessica da Silva Fausto, Flávia A. Costa-Barbosa, Miguel Mitne-Neto, Andre Yuji Oku, Gilberto K. Furuzawa
Publikováno v: Journal of Neuroendocrinology. 30:e12658
Congenital hypogonadotrophic hypogonadism (CHH) is a challenging inherited endocrine disorder characterised by absent or incomplete pubertal development and infertility as a result of the low action/secretion of the hypothalamic gonadotrophin-releasi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ec7d47c1dc1a47e3b9f42bb7a329f7f
https://doi.org/10.1111/jne.12658
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7
Desenvolvimento de um método para a determinação da iodúria e sua aplicação na excreção urinária de iodo em escolares brasileiros
Autor: Rui M. B. Maciel, Teresa S. Kasamatsu, Ilda S. Kunii, Roberto Zonato Esteves, José Gilberto H. Vieira, Gilberto K. Furuzawa
Publikováno v: Arquivos Brasileiros de Endocrinologia & Metabologia v.51 n.9 2007
Arquivos Brasileiros de Endocrinologia & Metabologia
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
Arquivos Brasileiros de Endocrinologia & Metabologia, Volume: 51, Issue: 9, Pages: 1477-1484, Published: DEC 2007
Desenvolvemos método semi-automatizado em placa para a determinação de iodo urinário; utilizamos, primeiramente, a digestão das amostras de urina com persulfato de amônio e, a seguir, estimamos a quantidade de iodo pela redução do sulfato cé
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ff4f34a569353b4cb6ad0a6924e974f
https://doi.org/10.1590/s0004-27302007000900010
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8
Low iodine diet does not improve the efficacy of radioiodine for the treatment of Graves’ disease
Autor: Teresa S. Kasamatsu, Magnus R. Dias-da-Silva, Ilda S. Kunii, Rosalia P. Padovani, Vanessa A. Santarosa, José Gilberto H. Vieira, Gilberto K. Furuzawa, Marilia M. S. Marone, Rui M. B. Maciel, Mario Luiz Vieira Castiglioni, Lia B. Fiorin, João Roberto Maciel Martins, Denise Orlandi
Publikováno v: Archives of Endocrinology and Metabolism v.59 n.6 2015
Arquivos de Endocrinologia e Metabolismo
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
Archives of Endocrinology and Metabolism, Vol 59, Iss 6, Pp 501-506 (2015)
Archives of Endocrinology and Metabolism, Volume: 59, Issue: 6, Pages: 501-506, Published: 25 SEP 2015
Objective Consuming a low-iodine diet (LID) is a widely accepted practice before administering radioiodine (131I) to evaluate and to treat thyroid disease. Although this procedure is well established for the management of patients with differentiated
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5434a583e47810bcb38afc5d024e297c
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972015000600501
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9
The MODY Type of Diabetes Mellitus
Autor: Carolina S. V. Oliveira, André F. Reis, Gilberto K. Furuzawa
Publikováno v: Arquivos Brasileiros de Endocrinologia & Metabologia, Volume: 46, Issue: 2, Pages: 186-192, Published: APR 2002
Arquivos Brasileiros de Endocrinologia & Metabologia v.46 n.2 2002
Arquivos Brasileiros de Endocrinologia & Metabologia
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
Estima-se que perto de 5% dos indivíduos classificados como portadores de diabetes mellitus (DM) tipo 2 e 10% daqueles considerados como tipo 1 (anteriormente classificado como juvenil) sejam, na verdade, portadores de mutações MODY. Nesta forma d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed4c386a1ca680c01acc5e1d251693e6
https://doi.org/10.1590/s0004-27302002000200012
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10
Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel α1 subunit gene (Cav 1·1) are not associated with thyrotoxic hypokalaemic periodic paralysis
Autor: Magnus R. Dias da Silva, Célia Harumi Tengan, Gilberto K. Furuzawa, Rui M. B. Maciel, Janete M. Cerutti, Alberto Alain Gabbai, Teresa C. A. Vieira
Publikováno v: Clinical Endocrinology. 56:367-375
Objective To investigate whether patients with thyrotoxic hypokalaemic periodic paralysis (THPP) have the same molecular defect in the calcium channel gene described in familial hypokalaemic periodic paralysis (FHPP), as the symptoms of both diseases
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::01da7948a7c77aebd5821cf5143afc86
https://doi.org/10.1046/j.1365-2265.2002.01481.x
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