Recurrent Deletion of ZNF630 at Xp11.23 Is Not Associated With Mental Retardation
- Author
- LUGTENBERG, Dorien1 ; ZANGRANDE-VIEIRA, Luiz2 ; ULLMANN, Reinhard5 ; SCHWARTZ, Charles E6 ; STRATTON, Michael4 7 ; RAYMOND, F. Lucy4 ; VELTMAN, Joris A1 ; VRIJENHOEK, Terry1 ; PFUNDT, Rolph1 ; SCHUURS-HOEIJMAKERS, Janneke H. M1 ; HEHIR-KWA, Jayne Y1 ; FROYEN, Guy8 ; KIRCHHOFF, Maria3 ; CHELLY, Jamel9 ; HILGER ROPERS, Hans5 ; MORAINE, Claude10 ; GECZ, Jozef11 12 ; KNIJNENBURG, Jeroen13 ; KANT, Sarina G14 ; HAMEL, Ben C. J1 ; ROSENBERG, Carla15 2 ; VAN BOKHOVEN, Hans1 ; DE BROUWER, Arjan P. M1 ; WHIBLEY, Annabel C4 ; OUDAKKER, Astrid R1 ; KJAERGAARD, Susanne3 ; VIANNA-MORGANTE, Angela M2 ; KLEEFSTRA, Tjitske1 ; RUITER, Mariken1 ; JEHEE, Fernanda S2
[1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
[2] Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil
[3] Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
[4] Cambridge Institute of Medical Research, Cambridge, United Kingdom
[5] Max Planck Institute for Molecular Genetics, Berlin, Germany
[6] JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, United States
[7] Institute of Cancer Research, Surrey, United Kingdom
[8] Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Centre for Human genetics, K.U. Leuven, Leuven, Belgium
[9] Université Paris Descartes, Institut Cochin, INSERM Unité 567, CNRS UMR 8104, Paris, France
[10] Centre Hospitalier Régional Universitaire de Tours, Service de Genetique, INSERM U930, Tours, France
[11] Department of Genetic Medicine, Women's and Children's Hospital, University of Adelaide, Adelaide, Australia
[12] Department of Paediatrics, University of Adelaide, Adelaide, Australia
[13] Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, Netherlands
[14] Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands
[15] A.C. Camargo Hospital, São Paulo, Brazil - Source
American journal of medical genetics. Part A. 2010, Vol 152, Num 3, pp 638-645, 8 p ; ref : 3/4 p
- Publisher
- Wiley-Liss, Chichester
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- Xp11 zinc finger cluster ZNF630 copy number variation mental retardation non-allelic homologous recombination
- Keyword (fr)
- Amas Arriération mentale Délétion Motif structural Nombre copie Recombinaison non homologue Récidivant Récidive Variation Aberration chromosomique Déficience intellectuelle Trouble du développement
- Keyword (en)
- Cluster Mental retardation Deletion Structural unit Copy number Non homologous recombination Recurrent Relapse Variations Chromosomal aberration Intellectual deficiency Developmental disorder
- Keyword (es)
- Montón Retraso mental Deleción Motivo estructural Número copia Recombinación non homóloga Recidivante Recaida Variación Aberración cromosómica Deficiencia intelectual Trastorno desarrollo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B18 Psychopathology. Psychiatry / 002B18C Adult and adolescent clinical studies / 002B18C12 Intellectual deficiency
- Francis
- 770 Psychology. Psychoanalysis. Psychiatry / 770-D Psychopathology. Psychiatry / 770-D03 Adult and adolescent clinical studies / 770-D03L Intellectual deficiency
- Discipline
- Medical genetics Psychopathology. Psychiatry. Clinical psychology
- Origin
- Inist-CNRS
- Database
- FRANCIS ; PASCAL
- INIST identifier
- 22514137
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.a.33292 
https://dx.doi.org/10.1002/ajmg.a.33292
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