Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures
- Author
- AMIEL, Jeanne1 ; ESPINOSA-PARRILLA, Yolanda1 ; LE MERRER, Martine1 ; TANAKA, Hajime6 ; TILL, Marianne7 ; TOURAINE, Renaud8 ; TOUTAIN, Annick9 ; VEKEMANS, Michel1 ; MUNNICH, Arnold1 ; LYONNET, Stanislas1 ; STEFFANN, Julie1 ; GOSSET, Philippe1 ; PELET, Anna1 ; PRIEUR, Marguerite1 ; BOUTE, Odile2 ; CHOISET, Agnès3 ; LACOMBE, Didier4 ; PHILIP, Nicole5
[1] Département de Génétique, et Unité INSERM U-393, Hôpital Necker-Enfants Malades, Paris, France
[2] Service de Cytogénétique, Hôpital Saint Vincent de Paul, Paris, France
[3] Service de Pédiatrie, Hôpital Huriez, Lille, France
[4] Service de Génétique, Hôpital Pellegrin, Bordeaux, United States
[5] Département de Génétique, Hôpital d'Enfants de la Timone, Marseille, France
[6] Department of Pediatrics, Asahikawa Habilitation Center for Disabled Children, Asahikawa, Japan
[7] Service de Pédiatrie, Hôpital Debrousse, Lyon, France
[8] Service de Génétique, Hôpital Nord, Saint-Etienne, Tours, France
[9] Service de Génétique, Hôpital Bretonneau, Tours, France - Source
American journal of human genetics. 2001, Vol 69, Num 6, pp 1370-1377 ; ref : 12 ref
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Agénésie Arriération mentale Association Cellule Congénital Corps calleux Dysmorphie Délétion Développement Face Gène Hirschsprung maladie Homme Hypospadias Microcéphalie Mutation Neurone Structure Transcription Aberration chromosomique Appareil digestif pathologie Appareil urinaire pathologie Chromosome anormal Côlon pathologie Déficience intellectuelle Encéphale pathologie Intestin pathologie Maladie congénitale Malformation neuronale intestinale Système nerveux central pathologie Système nerveux pathologie Trouble développement Urètre pathologie Voie urinaire pathologie
- Keyword (en)
- Agenesis Mental retardation Association Cell Congenital Corpus callosum Dysmorphism Deletion Development Face Gene Hirschsprung disease Human Hypospadias Microcephaly Mutation Neuron Structure Transcription Chromosomal aberration Digestive diseases Urinary system disease Abnormal chromosome Colonic disease Intellectual deficiency Cerebral disorder Intestinal disease Congenital disease Neuronal intestinal malformation Central nervous system disease Nervous system diseases Developmental disorder Urethral disease Urinary tract disease
- Keyword (es)
- Agenesia Retraso mental Asociación Célula Congénito Cuerpo calloso Dismorfia Deleción Desarrollo Cara Gen Hirschsprung enfermedad Hombre Hipospadias Microcefalia Mutación Neurona Estructura Transcripción Aberración cromosómica Aparato digestivo patología Aparato urinario patología Cromosoma anormal Colón patología Deficiencia intelectual Encéfalo patología Intestino patología Enfermedad congénita Malformación neuronal intestinal Sistema nervosio central patología Sistema nervioso patología Trastorno desarrollo Uretra patología Vía urinaria patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23B Chromosome aberrations
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 13388242
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
10.1086/324342 
https://dx.doi.org/10.1086/324342
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