SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations
- Author
- VAN UUM, Chris M. J1 ; STEVENS, Servi J. C1 ; DREESEN, Joseph C. F. M1 2 ; DRÜSEDAU, Marion1 ; SMEETS, Hubert J1 2 ; HOLLANDERS-CROMBACH, Bertien1 ; DE DIE-SMULDERS, Christine E. M1 2 ; GERAEDTS, Joep Pm1 2 ; ENGELEN, John J. M1 2 ; COONEN, Edith1 3
[1] Departments of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands
[2] School for Oncology and Developmental biology (GROW), Maastricht University, Maastricht, Netherlands
[3] Department of Obstetrics & Gynaecology (IVF laboratory), Maastricht University Medical Centre, Maastricht, Netherlands - Source
European journal of human genetics. 2012, Vol 20, Num 9, pp 938-944, 7 p ; ref : 53 ref
- Publisher
- Nature Publishing Group, Basingstoke
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- SNP array blastomeres chromosomal translocations genotyping preimplantation genetic diagnosis whole-genome amplification
- Keyword (fr)
- Amplification génique Blastomère Conseil génétique Diagnostic préimplantatoire Génome Génotype Génétique Homme Nombre copie Polymorphisme mononucléotide Translocation chromosomique Typage Aberration chromosomique Chromosome anormal
- Keyword (en)
- Gene amplification Blastomere Genetic counseling Preimplantation diagnosis Genome Genotype Genetics Human Copy number Single nucleotide polymorphism Chromosome translocation Typing Chromosomal aberration Abnormal chromosome
- Keyword (es)
- Amplificación génica Blastómero Consejo genético Diagnóstico preimplantatorio Genoma Genotipo Genética Hombre Número copia Polimorfismo mononucleótido Translocación cromosómica Tipificación Aberración cromosómica Cromosoma anormal
- 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
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23B Chromosome aberrations
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26255583
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/ejhg.2012.27 
https://dx.doi.org/10.1038/ejhg.2012.27
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