Guidelines for molecular karyotyping in constitutional genetic diagnosis
- Author
- VERMEESCH, Joris Robert1 ; FIEGLER, Heike2 ; SANLAVILLE, Damien11 ; PATSALIS, Philippos C12 ; FIRTH, Helen13 ; DEVRIENDT, Koen1 ; ZUFFARDI, Orsetta6 ; DE LEEUW, Nicole3 ; SZUHAI, Karoly4 ; SCHOUMANS, Jacqueline5 ; CICCONE, Roberto6 ; SPELEMAN, Frank7 ; RAUCH, Anita8 ; CLAYTON-SMITH, Jill9 ; VAN RAVENSWAAIJ, Conny10
[1] Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
[2] The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom
[3] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
[4] Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, Netherlands
[5] Department of Molecular Medicine and Surgery, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden
[6] Biologia Generale e Genetica Medica, Universitd di Pavia, Pavia, Italy
[7] Center for Medical Genetics, Ghent University, Ghent, Belgium
[8] Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany
[9] Academic Unit of Medical Genetics, St Mary's Hospital, Manchester, United Kingdom
[10] Department of Genetics, University Medical Center, Groningen, Netherlands
[11] Cytogenetic Department, Hospices Civils de Lyon, Edouard Herriot Hospital, and Claude Bernard University, Lyon, France
[12] Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
[13] Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, United Kingdom - Source
European journal of human genetics. 2007, Vol 15, Num 11, pp 1105-1114, 10 p ; ref : 74 ref
- Publisher
- Nature Publishing, Avenel, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- array CGH best practice guidelines copy number changes genome-wide screening molecular karyotype
- Keyword (fr)
- Caryotype Criblage Diagnostic Dépistage Génome Génétique Nombre copie Pratique professionnelle Recommandation Cytogénétique
- Keyword (en)
- Karyotype Screening Diagnosis Medical screening Genome Genetics Copy number Professional practice Recommendation Cytogenetics
- Keyword (es)
- Cariotipo Cernido Diagnóstico Descubrimiento Genoma Genética Número copia Práctica profesional Recomendación Citogenética
- 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 / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20040490
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.5201896 
https://dx.doi.org/10.1038/sj.ejhg.5201896
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