New findings for phenotype—genotype correlations in a large European series of holoprosencephaly cases
- Author
- MERCIER, Sandra1 2 ; DUBOURG, Christèle2 3 ; JAILLARD, Sylvie2 ; ROCHARD, Lucie2 ; QUELIN, Chloé1 ; DUPE, Valérie2 ; DAVID, Véronique2 ; ODENT, Sylvie1 2 ; GARCELON, Nicolas4 ; CAMPILLO-GIMENEZ, Boris4 ; GICQUEL, Isabelle2 ; BELLEGUIC, Marion1 ; RATIE, Leslie2 ; PASQUIER, Laurent1 ; LOGET, Philippe5 ; BENDAVID, Claude2
[1] Service de Génétique Clinique, CLAD Ouest, CHU Rennes, Rennes, France
[2] Faculté de Médecine, Institut de Génétique et Développement de Rennes, Universite de Rennes 1, Rennes, France
[3] Laboratoire de Génétique Moléculaire, CHU Rennes, Rennes, France
[4] Laboratoire d'Informatique Médicale, CHU Rennes, Rennes, France
[5] Service d'Anatomie Pathologique, CHU Rennes, Rennes, France - Source
Journal of medical genetics. 2011, Vol 48, Num 11, pp 752-760, 9 p ; ref : 49 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Arhinencéphalie Corrélation Etude cas Européen Génotype Génétique Homme Phénotype Typage Europe Maladie congénitale Malformation Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux
- Keyword (en)
- Arhinencephaly Correlation Case study European Genotype Genetics Human Phenotype Typing Europe Congenital disease Malformation Cerebral disorder Central nervous system disease Nervous system diseases
- Keyword (es)
- Arrinoencefalia Correlación Estudio caso Europeo Genotipo Genética Hombre Fenotipo Tipificación Europa Enfermedad congénita Malformación Encéfalo patología 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 / 002B17 Neurology / 002B17D Malformations of the nervous system
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 24703492
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/jmedgenet-2011-100339 
https://dx.doi.org/10.1136/jmedgenet-2011-100339
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arXiv access
