TULIP1 (RALGAPA1 ) haploinsufficiency with brain development delay
- Author
- SHIMOJIMA, Keiko1 ; KOMOIKE, Yuta1 2 ; OSAWA, Makiko7 ; HIGASHINAKAGAWA, Toru2 ; YAMAMOTO, Toshiyuki1 ; TOHYAMA, Jun3 ; TAKAHASHI, Sonoko2 ; PAEZ, Marco T1 ; NAKAGAWA, Eiji4 ; GOTO, Yuichi4 ; OHNO, Kousaku5 ; OHTSU, Mayu6 ; OGUNI, Hirokazu7
[1] International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ward, Tokyo, 162-8666, Japan
[2] Department of Biology, School of Education, Waseda University, Tokyo, Japan
[3] Department of Pediatrics, Nishi-Niigata Chuo National Hospital, Niigata, Japan
[4] Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
[5] Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
[6] Department of Pediatrics, Saiseikai Yokohamashi Nanbu Hospital, Yokohama, Japan
[7] Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan - Source
Genomics (San Diego, Calif.). 2009, Vol 94, Num 6, pp 414-422, 9 p ; ref : 23 ref
- ISSN
- 0888-7543
- Scientific domain
- Cell biology, histology; Genetics
- Publisher
- Elsevier, Amsterdam
- Publication country
- Netherlands
- Document type
- Article
- Language
- English
- Author keyword
- Brain Chromosomal deletion Developmental delay Epilepsy Human TULIP1 (RALGAPA1) Zebrafish
- Keyword (fr)
- Brachydanio rerio Délétion Développement Encéphale Epilepsie Génomique Homme Trouble du développement Haploinsuffisance Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux Pisces Système nerveux central Vertebrata
- Keyword (en)
- Brachydanio rerio Deletion Development Encephalon Epilepsy Genomics Human Developmental disorder Haploinsufficiency Cerebral disorder Central nervous system disease Nervous system diseases Pisces Central nervous system Vertebrata
- Keyword (es)
- Brachydanio rerio Deleción Desarrollo Encéfalo Epilepsia Genómica Hombre Trastorno desarrollo Encéfalo patología Sistema nervosio central patología Sistema nervioso patología Pisces Sistema nervioso central Vertebrata
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology / 002A04C Molecular genetics / 002A04C02 Genes. Genome
- 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 / 002B17A Nervous system (semeiology, syndromes) / 002B17A03 Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Molecular and cell biology Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22190043
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
10.1016/j.ygeno.2009.08.015 
https://dx.doi.org/10.1016/j.ygeno.2009.08.015
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