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Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.
Remacha, Laura; Pirman, David; Mahoney, Christopher E; Coloma, Javier; Calsina, Bruna; Currás-Freixes, Maria; Letón, Rocío; Torres-Pérez, Rafael; Richter, Susan; Pita, Guillermo; Herráez, Belén; Cianchetta, Giovanni; Honrado, Emiliano; Maestre, Lorena; Urioste, Miguel; Aller, Javier; García-Uriarte, Óscar; Gálvez, María Ángeles; Luque, Raúl M; Lahera, Marcos; Moreno-Rengel, Cristina; Eisenhofer, Graeme; Montero-Conde, Cristina; Rodríguez-Antona, Cristina; Llorca, Óscar; Smolen, Gromoslaw A; Robledo, Mercedes; Cascón, Alberto.
Afiliação
  • Remacha L; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain.
  • Pirman D; Agios Pharmaceuticals, 88 Sidney Street, Cambridge, MA 02139, USA.
  • Mahoney CE; Agios Pharmaceuticals, 88 Sidney Street, Cambridge, MA 02139, USA.
  • Coloma J; Structural Biology Programme, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain.
  • Calsina B; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain.
  • Currás-Freixes M; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain.
  • Letón R; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain.
  • Torres-Pérez R; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain.
  • Richter S; Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Freistaat Sachsen 01069, Germany.
  • Pita G; Human Genotyping Unit-CeGen, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain.
  • Herráez B; Human Genotyping Unit-CeGen, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain.
  • Cianchetta G; Agios Pharmaceuticals, 88 Sidney Street, Cambridge, MA 02139, USA.
  • Honrado E; Anatomical Pathology Service, Hospital of León, León, Castilla y León 24071, Spain.
  • Maestre L; Monoclonal Antibodies Unit, Biotechnology Programme, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain.
  • Urioste M; Familial Cancer Clinical Unit, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain.
  • Aller J; Department of Endocrinology, University Hospital Puerta de Hierro, Majadahonda, Madrid 28222, Spain.
  • García-Uriarte Ó; Nephrology Department, University Hospital of Araba, Vitoria, País Vasco 01009, Spain.
  • Gálvez MÁ; Service of Endocrinology and Nutrition, University Hospital Reina Sofía, Córdoba, Andalucía 14004, Spain; Maimónides Institute of Biomedical Research of Cordoba, Córdoba, Andalucía 14004, Spain.
  • Luque RM; Hormones and Cancer Group, Maimónides Institute of Biomedical Research of Córdoba, Córdoba, Andalucía 14004, Spain.
  • Lahera M; Endocrinology and Nutrition Department, La Princesa University Hospital, Madrid, Madrid 28006, Spain.
  • Moreno-Rengel C; Department of Endocrinology and Nutrition, University Hospital of Basurto, Bilbao 48013, Spain.
  • Eisenhofer G; Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Freistaat Sachsen 01069, Germany.
  • Montero-Conde C; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain.
  • Rodríguez-Antona C; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Madrid 28029, Spain.
  • Llorca Ó; Structural Biology Programme, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain.
  • Smolen GA; Agios Pharmaceuticals, 88 Sidney Street, Cambridge, MA 02139, USA.
  • Robledo M; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Madrid 28029, Spain.
  • Cascón A; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Madrid 28029, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Madrid 28029, Spain. Electronic address: acascon@cnio.es.
Am J Hum Genet ; 104(4): 651-664, 2019 04 04.
Article em En | MEDLINE | ID: mdl-30929736
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraganglioma / Feocromocitoma / Aciltransferases / Neoplasias das Glândulas Suprarrenais / Mutação em Linhagem Germinativa Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Espanha
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraganglioma / Feocromocitoma / Aciltransferases / Neoplasias das Glândulas Suprarrenais / Mutação em Linhagem Germinativa Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Espanha