Molecular diagnosis of Prader-Willi syndrome : parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms
- Author
- LERER, I; MEINER, V; PASHUT-LAVON, I; ABELIOVICH, D
Hadassah Hebrew univ. hosp., dep. human genetics, Jerusalem 91120, Israel - Source
American journal of medical genetics. = Neuropsychiatric genetics. 1994, Vol 52, Num 1, pp 79-84 ; ref : 1 p
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Biologie moléculaire Chromosome D15 Diagnostic Délétion Etat nutritionnel Homme Insuline Méthylation Origine maternelle Origine paternelle Prader Labhard Willi syndrome Séquence répétée Disomie uniparentale Diabète Endocrinopathie Obésité Résistance tissu cible Syndrome complexe Système ostéoarticulaire pathologie Trouble nutrition
- Keyword (en)
- Molecular biology D15-Chromosome Diagnosis Deletion Nutritional status Human Insulin Methylation Maternal origin Paternal origin Prader Labhard Willi syndrome Repeated sequence Uniparental disomy Diabetes mellitus Endocrinopathy Obesity Target tissue resistance Complex syndrome Diseases of the osteoarticular system Nutrition disorder
- Keyword (es)
- Biología molecular Cromosoma D15 Diagnóstico Deleción Estado nutricional Hombre Insulina Metilación Origen materno Origen paterno Prader Labhard Willi síndrome Secuencia repetida Diabetes Endocrinopatía Obesidad Resistencia tejido blanco Síndrome complejo Sistema osteoarticular patología Trastorno nutricíon
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 4168793
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
10.1002/ajmg.1320520116 
https://dx.doi.org/10.1002/ajmg.1320520116
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