Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
- Author
- COMINO-MENDEZ, Inaki1 2 ; GRACIA-AZNAREZ, Francisco J2 3 ; GOMEZ-GRANA, Alvaro1 ; DE CUBAS, Aguirre A1 ; INGLADA-PEREZ, Lucía1 2 ; MALISZEWSKA, Agnieszka1 ; TASCHIN, Elisa4 ; BOBISSE, Sara4 ; PICA, Giuseppe8 ; LOLI, Paola9 ; HERNANDEZ-LAVADO, Rafael10 ; DIAZ, Jose A11 ; SCHIAVI, Francesca4 ; GOMEZ-MORALES, Mercedes12 ; GONZALEZ-NEIRA, Anna7 ; RONCADOR, Giovanna6 ; RODRIGUEZ-ANTONA, Cristina1 2 ; BENITEZ, Javier2 3 ; MANNELLI, Massimo13 ; OPOCHER, Giuseppe14 4 ; ROBLEDO, Mercedes1 2 ; CASCON, Alberto1 2 ; LANDA, Inigo1 ; LEANDRO-GARCIA, Luis J1 ; LETON, Rocio1 ; HONRADO, Emiliano5 ; RAMOS-MEDINA, Rocio6 ; CARONIA, Daniela7 ; PITA, Guillermo7
[1] Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
[2] Centro de Investigación Biomedica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
[3] Human Genetics Group, Spanish National Cancer Research Centre, Madrid, Spain
[4] Familial Cancer Clinic, Veneto Institute of Oncology, Padova, Italy
[5] Anatomical Pathology Service, Hospital de León, León, Spain
[6] Monoclonal Antibodies Unit, Biotechnology Programme, Spanish National Cancer Research Centre, Madrid, Spain
[7] Human Genotyping Unit-CeGen, Human Cancer Genetics Programme, Spanish National Cancer Centre, Madrid, Spain
[8] Endocrinology and Metabolic Diseases, University of Foggia, Foggia, Italy
[9] Department of Endocrinology, Ospedale Niguarda Ca' Granda, Milan, Italy
[10] Endocrinology Section, Hospital Infanta Cristina, Badajoz, Spain
[11] Department of Endocrinology, Hospital Universitario Clínico San Carlos, Madrid, Spain
[12] Department of Pathology, University Hospital, University of Granada, Granada, Spain
[13] Department of Clinical Pathophysiology, University of Florence and Istituto Toscano Tumori, Florence, Italy
[14] Department of Medical and Surgical Sciences, University of Padova, Padova, Italy - Source
Nature genetics. 2011, Vol 43, Num 7, pp 663-667, 5 p ; ref : 30 ref
- Publisher
- Nature Publishing Group, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Héréditaire Identification Mutation Phéochromocytome Séquençage Endocrinopathie Tumeur sécrétante
- Keyword (en)
- Hereditary Identification Mutation Pheochromocytoma Sequencing Endocrinopathy Secretory tumor
- Keyword (es)
- Hereditario Identificación Mutación Feocromocitoma Sequencing Endocrinopatía Tumor secretante
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21B Adrenals. Adrenal axis. Renin-angiotensin system (diseases) / 002B21B01 Non tumoral diseases. Target tissue resistance. Benign neoplasms
- Discipline
- Endocrinopathies Eukaryotes genetics. Biological and molecular evolution
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 24333639
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/ng.861 
https://dx.doi.org/10.1038/ng.861
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