Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet—Biedl syndrome patient population
- Author
- BILLINGSLEY, Gail; BIN, Jenea; CHITAYAT, David8 9 ; KNUEPPEL, Tanja10 ; MILLAN, José M11 ; MITCHELL, Grant A12 ; DEVEAULT, Catherine; HEON, Elise1 ; FIEGGEN, Karen J; DUNCAN, Jacque L; GERTH, Christina1 ; OGATA, Koji2 ; WODAK, Shoshana S3 4 5 ; TRABOULSI, Elias I6 ; FISHMAN, Gerald A7 ; PATERSON, Andrew
[1] Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada
[2] Centre for Computational Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
[3] Molecular Structure and Function Program, The Hospital for Sick Children, Toronto, Ontario, Canada
[4] Department of Biochemistry, University of Toronto, Toronto, Ontario, Canada
[5] Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
[6] Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, United States
[7] Department of Ophthalmology & Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, United States
[8] Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada
[9] Department of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada
[10] Department of Pediatric Nephrology, University Children's Hospital Heidelberg, Heidelberg, Germany
[11] Unidad de Genetica, Hospital Universitario La Fe, Valencia, Spain
[12] The Program in Genetics and Genome Biology, Division of Medical Genetics, CHU Sainte-Justine, Montréal, Quebec, Canada - Source
Journal of medical genetics. 2010, Vol 47, Num 7, pp 453-463, 11 p ; ref : 31 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Développement maladie Etat nutritionnel Grave Gène Génétique Homme Malade Mutation Population Syndrome de Laurence-Moon-Bardet-Biedl Endocrinopathie Maladie héréditaire Malformation Obésité Pathologie de l'appareil génital Pathologie de l'oeil Pathologie du système nerveux Pathologie du système ostéoarticulaire Syndrome complexe Trouble de la nutrition
- Keyword (en)
- Disease development Nutritional status Severe Gene Genetics Human Patient Mutation Population Laurence-Moon-Bardet-Biedl syndrome Endocrinopathy Genetic disease Malformation Obesity Genital diseases Eye disease Nervous system diseases Diseases of the osteoarticular system Complex syndrome Nutrition disorder
- Keyword (es)
- Desarrollo enfermedad Estado nutricional Grave Gen Genética Hombre Enfermo Mutación Población Laurence-Moon-Bardet-Biedl síndrome Endocrinopatía Enfermedad hereditaria Malformación Obesidad Aparato genital patología Ojo patología Sistema nervioso patología Sistema osteoarticular patología Síndrome complejo Trastorno nutricíon
- 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 / 002B22 Metabolic diseases / 002B22B Obesity
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Metabolic diseases Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22996420
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
10.1136/jmg.2009.073205 
https://dx.doi.org/10.1136/jmg.2009.073205
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