Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes
- Author
- MICHIELSE, Caroline B1 2 ; BHAT, Meena3 ; BRADY, Angela3 ; JAFRID, Hussain4 ; VAN DEN HURK, José A. J. M1 2 ; RAASHID, Yasmin4 ; BRUNNER, Han G2 ; VAN BOKHOVEN, Hans2 ; PADBERG, George W1
[1] Department of Neurology, University Medical Centre Nijmegen, Nijmegen, Netherlands
[2] Department of Human Genetics 855, University Medical Centre Nijmegen, Nijmegen, Netherlands
[3] Regional Genetics Centre, North West London Hospitals NHS Trust, Northwick Park Hospital, Watford Road, Harrow, United Kingdom
[4] Gene Tech Lab, 146/1 Lahore, Pakistan - Source
European journal of human genetics. 2006, Vol 14, Num 12, pp 1306-1312, 7 p ; ref : 34 ref
- Publisher
- Nature Publishing, Avenel, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- Möbius syndrome chromosome 3q21-q22 cranial nerve facial nerve facial palsy
- Keyword (fr)
- Carte génétique Chromosome Congénital Criblage Diplégie faciale congénitale Moebius Dépistage Déterminisme génétique Etude familiale Génétique Héréditaire Milieu familial Nerf crânien Nerf facial Paralysie faciale Pathogénie Maladie congénitale Malformation Nerf crânien pathologie ORL pathologie Système nerveux central pathologie Système nerveux pathologie Trouble moteur Trouble neurologique
- Keyword (en)
- Genetic mapping Chromosome Congenital Screening Moebius syndrome Medical screening Genetic determinism Family study Genetics Hereditary Family environment Cranial nerve Facial nerve Facial paralysis Pathogenesis Congenital disease Malformation Cranial nerve disease ENT disease Central nervous system disease Nervous system diseases Motor system disorder Neurological disorder
- Keyword (es)
- Mapa genético Cromosoma Congénito Cernido Diplejía facial congénita Moebius Descubrimiento Determinismo genético Estudio familiar Genética Hereditario Medio familiar Nervio craneal Nervio facial Parálisis facial Patogenia Enfermedad congénita Malformación Nervio craneal patología ORL patología Sistema nervosio central patología Sistema nervioso patología Trastorno motor Trastorno neurológico
- 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 / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology / 002B10D Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology / 002B10D02 Non tumoral diseases
- 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 Otorhinolaryngology. Stomatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18304164
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
10.1038/sj.ejhg.5201706 
https://dx.doi.org/10.1038/sj.ejhg.5201706
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