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Functional and in silico assessment of MAX variants of unknown significance.
Comino-Méndez, Iñaki; Leandro-García, Luis J; Montoya, Guillermo; Inglada-Pérez, Lucía; de Cubas, Aguirre A; Currás-Freixes, María; Tysoe, Carolyn; Izatt, Louise; Letón, Rocío; Gómez-Graña, Álvaro; Mancikova, Veronika; Apellániz-Ruiz, María; Mannelli, Massimo; Schiavi, Francesca; Favier, Judith; Gimenez-Roqueplo, Anne-Paule; Timmers, Henri J L M; Roncador, Giovanna; Garcia, Juan F; Rodríguez-Antona, Cristina; Robledo, Mercedes; Cascón, Alberto.
Afiliação
  • Comino-Méndez I; Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain.
  • Leandro-García LJ; Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain.
  • Montoya G; Macromolecular Crystallography Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
  • Inglada-Pérez L; Structural Biology Group, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • de Cubas AA; Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain.
  • Currás-Freixes M; ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain.
  • Tysoe C; Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain.
  • Izatt L; Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain.
  • Letón R; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Gómez-Graña Á; Department of Clinical Genetics, Guy's and St Thomas' Foundation Trust, Guy's Hospital, London, UK.
  • Mancikova V; Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain.
  • Apellániz-Ruiz M; Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain.
  • Mannelli M; Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain.
  • Schiavi F; Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain.
  • Favier J; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
  • Gimenez-Roqueplo AP; Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology IRCCS, Padova, Italy.
  • Timmers HJ; INSERM, UMR970, Paris-Cardiovascular Research Center, and Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Paris, France.
  • Roncador G; INSERM, UMR970, Paris-Cardiovascular Research Center, and Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Paris, France.
  • Garcia JF; Department of Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  • Rodríguez-Antona C; Monoclonal Antibodies Unit, Biotechnology Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
  • Robledo M; Department of Pathology, M D Anderson Cancer Center Madrid, Madrid, Spain.
  • Cascón A; Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain.
J Mol Med (Berl) ; 93(11): 1247-55, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26070438
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraganglioma / Feocromocitoma / Algoritmos / Neoplasias das Glândulas Suprarrenais / Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos / Fatores de Transcrição de Zíper de Leucina Básica Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: J Mol Med (Berl) Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Espanha País de publicação: Alemanha
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraganglioma / Feocromocitoma / Algoritmos / Neoplasias das Glândulas Suprarrenais / Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos / Fatores de Transcrição de Zíper de Leucina Básica Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: J Mol Med (Berl) Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Espanha País de publicação: Alemanha