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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

CODEN
JMDGAE
ISSN
0022-2593
Scientific domain
Genetics
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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