Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD
- Author
- PASINI, Barbara1 ; MCWHINNEY, Sarah R2 ; BAUDIN, Eric7 ; CHOMPRET, Agnes8 ; ELLISON, Jay W9 ; BRIERE, Jean-Jacques10 11 ; RUSTIN, Pierre10 11 ; GIMENEZ-ROQUEPLO, Anne-Paule12 13 14 ; CHARIS ENG2 6 ; AIDAN CARNEY, J15 ; STRATAKIS, Constantine A3 ; BEI, Thalia3 ; MATYAKHINA, Ludmila3 ; STERGIOPOULOS, Sotirios3 ; MUCHOW, Michael3 ; BOIKOS, Sosipatros A3 ; FERRANDO, Barbara1 ; PACAK, Karel4 ; ASSIE, Guillaume5 6
[1] Department of Genetics, Biology and Biochemistry, University of Torino, Turin, Italy
[2] Department of Molecular Genetics, The Ohio State University, Columbus, OH, United States
[3] Section on Endocrinology and Genetics, Pediatric Endocrinology Training Program, Developmental Endocrinology Branch, National Institutes of Health, Bethesda, MD, United States
[4] Reproductive Biology and Medicine Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States
[5] INSERM U567, Institut Cochin, Département d'Endocrinologie, Paris, France
[6] Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Center, Cleveland Clinic Foundation, Cleveland, OH, United States
[7] Cancerologie Endocrinienne, Institut Gustave Roussy, Villejuif, France
[8] Oncogenetique, Institut Gustave Roussy, Villejuif, France
[9] Department of Medical Genetics, Mayo Clinic, Rochester, MN, United States
[10] INSERM, U676, Paris, France
[11] Faculté de Médecine Denis Diderot, Université Paris 7, IFR02, Paris, France
[12] Department of Genetics, Assistance Publique-Hopitaux de Paris, Hopital Européen Georges Pompidou, Paris, France
[13] Faculté de Médecine, Université Paris-Descartes, Paris, France
[14] INSERM, U772, College de France, Paris, France
[15] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States - Source
European journal of human genetics. 2008, Vol 16, Num 1, pp 79-88, 10 p ; ref : 26 ref
- Publisher
- Nature Publishing, Avenel, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- C and D; paraganglioma; tumor suppressor gene gastrointestinal stromal tumors; succinate dehydrogenase subunits B
- Keyword (fr)
- Codage Gène suppresseur tumeur Génétique Homme Lignée germinale Malade Mutation Paragangliome Sousunité Succinate dehydrogenase Syndrome de Carney Tumeur stromale gastrointestinale Cancer Endocrinopathie Enzyme Maladie héréditaire Oxidoreductases Pathologie de l'appareil digestif Pathologie de l'estomac Pathologie du système nerveux autonome Pathologie du système nerveux Tumeur maligne
- Keyword (en)
- Coding Tumor suppressor gene Genetics Human Germ line Patient Mutation Paraganglioma Subunit Succinate dehydrogenase Carney syndrome Gastrointestinal stromal tumor Cancer Endocrinopathy Enzyme Genetic disease Oxidoreductases Digestive diseases Gastric disease Diseases of the autonomic nervous system Nervous system diseases Malignant tumor
- Keyword (es)
- Codificación Gen supresor tumor Genética Hombre Línea germinal Enfermo Mutación Paraganglioma Subunitad Succinate dehydrogenase Carney síndrome Tumor estromal gastrointestinal Cáncer Endocrinopatía Enzima Enfermedad hereditaria Oxidoreductases Aparato digestivo patología Estómago patología Sistema nervioso autónomo patología Sistema nervioso patología Tumor maligno
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- 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 / 002B13 Gastroenterology. Liver. Pancreas. Abdomen / 002B13B Stomach. Duodenum. Small intestine. Colon. Rectum. Anus / 002B13B01 Tumors
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Gastroenterology. Liver. Pancreas. Abdomen Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20318391
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/sj.ejhg.5201904 
https://dx.doi.org/10.1038/sj.ejhg.5201904
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