Detection of aneuploidies by paralogous sequence quantification
Contributeurs/tricesDeutsch, Samuel; Choudhury, U.; Merla, Giuseppe; Howald, C.; Sylvan, A.; Antonarakis, Stylianos
Publié dansJournal of medical genetics, vol. 41, no. 12, p. 908-915
Date de publication2004
Résumé
Mots-clés
- Aneuploidy
- Chromosomes, Human, Pair 13
- Chromosomes, Human, Pair 18
- Chromosomes, Human, Pair 21
- Chromosomes, Human, X
- Chromosomes, Human, Y
- Dna
- Female
- Genetic Testing/ methods
- Humans
- Male
- Polymerase Chain Reaction/ methods
- Reproducibility of Results
- Sensitivity and Specificity
- Sequence Homology, Nucleic Acid
Structure d'affiliation
Citation (format ISO)
DEUTSCH, Samuel et al. Detection of aneuploidies by paralogous sequence quantification. In: Journal of medical genetics, 2004, vol. 41, n° 12, p. 908–915. doi: 10.1136/jmg.2004.023184
Fichiers principaux (1)
Article
Identifiants
- PID : unige:8722
- DOI : 10.1136/jmg.2004.023184
- PMID : 15591276
ISSN du journal0022-2593