文献
J-GLOBAL ID:201702213068282402
整理番号:17A1433378
MODY家族のコホートにおけるHN F1AとGCK変異体におけるACMG AMPガイドラインの臨床応用【Powered by NICT】
Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families
著者 (21件):
Santana L.S.
(Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil)
,
Caetano L.A.
(Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil)
,
Caetano L.A.
(Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil)
,
Costa-Riquetto A.D.
(Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil)
,
Costa-Riquetto A.D.
(Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil)
,
Quedas E.P.S.
(Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil)
,
Nery M.
(Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil)
,
Collett-Solberg P.
(Department of Endocrinology, University of Rio de Janeiro State (UERJ), Rio de Janeiro, RJ, Brazil)
,
Boguszewski M.C.S.
(Departamento de Pediatria, Universidade Federal do Parana (UFPR), Curitiba, PR, Brazil)
,
Vendramini M.F.
(Servico de Endocrinologia, Hospital do Servidor Publico Estadual de Sao Paulo (HSPE-SP), Sao Paulo, SP, Brazil)
,
Crisostomo L.G.
(Servico de Endocrinologia, Hospital Israelita Albert Eisntein, Sao Paulo, SP, Brazil)
,
Crisostomo L.G.
(Faculdade de Medicina, Centro Universitario Sao Camilo, Sao Paulo, SP, Brazil)
,
Floh F.O.
(Servico de Endocrinologia, Hospital Israelita Albert Eisntein, Sao Paulo, SP, Brazil)
,
Zarabia Z.I.
(Servico de Endocrinologia, Hospital Infantil Dr. Jeser Amarante Faria, Joinville, SC, Brazil)
,
Kohara S.K.
(Servico de Endocrinologia, Universidade da Regiao de Joinville (UNIVILLE), Joinville, SC, Brazil)
,
Guastapaglia L.
(Servico de Endocrinologia, Hospital do Servidor Publico Municipal de Sao Paulo (HSPM-SP), Sao Paulo, SP, Brazil)
,
Passone C.G.B.
(Instituto da Crianca, Hospital das Clinicas, Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, SP, Brazil)
,
Sewaybricker L.E.
(Faculdade de Ciencias Medicas, Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brazil)
,
Jorge A.A.L.
(Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil)
,
Teles M.G.
(Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil)
,
Teles M.G.
(Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil)
資料名:
Clinical Genetics
(Clinical Genetics)
巻:
92
号:
4
ページ:
388-396
発行年:
2017年
JST資料番号:
E0526B
ISSN:
0009-9163
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)