Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
- Author
- MEFFORD, Heather C1 2 ; CLAUIN, Séverine3 ; TOMMERUP, Niels5 ; EICHLER, Evan E1 10 ; BELLANNE-CHANTELOT, Christine11 3 ; SHARP, Andrew J1 ; MOLLER, Rikke S4 5 ; ULLMANN, Reinhard6 ; KAPUR, Raj7 ; PINKEL, Dan8 ; COOPER, Gregory M1 ; VENTURA, Mario1 9 ; ROPERS, H. Hilger6
[1] Department of Genome Sciences, University of Washington, Department of Laboratories, Children's Hospital, United States
[2] Division of Medical Genetics, University of Washington, Department of Laboratories, Children's Hospital, United States
[3] Center of Molecular Genetics and Cytogenetics, Assistance Publique-Hôpitaux de Paris Pitié-Salpetrière, France
[4] Danish Epilepsy Centre, Dianalund, Denmark
[5] Wilhelm Johannsen Centre for Functional Genome Research, Copenhagen, Denmark
[6] Max-Planck Institute of Molecular Genetics, Berlin, Germany
[7] Regional Medical Center, United States
[8] Comprehensive Cancer Center, University of California-San Francisco, San Francisco, United States
[9] Department of Genetics and Microbiology, Universitá di Bari, Bari, Italy
[10] Howard Hughes Medical Institute, Seattle, United States
[11] Université Pierre et Marie Curie, Paris, France - Source
American journal of human genetics. 2007, Vol 81, Num 5, pp 1057-1069, 13 p ; ref : 31 ref
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Diabète Epilepsie Génomique Génétique Homme Néphropathie Rein pathologie Récidivant Récidive Association génétique Appareil urinaire pathologie Encéphale pathologie Endocrinopathie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Diabetes mellitus Epilepsy Genomics Genetics Human Nephropathy Kidney disease Recurrent Relapse Urinary system disease Cerebral disorder Endocrinopathy Central nervous system disease Nervous system diseases
- Keyword (es)
- Diabetes Epilepsia Genómica Genética Hombre Nefropatía Riñón patología Recidivante Recaida Aparato urinario patología Encéfalo patología Endocrinopatía Sistema nervosio central patología Sistema nervioso patología
- 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 / 002B21 Endocrinopathies / 002B21E Endocrine pancreas. Apud cells (diseases) / 002B21E01 Diabetes. Impaired glucose tolerance / 002B21E01A Etiopathogenesis. Screening. Investigations. Target tissue resistance
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Endocrinopathies Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 19203809
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
10.1086/522591 
https://dx.doi.org/10.1086/522591
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