Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies

Ozyilmaz B., Kirbiyik O., Koc A., Ozdemir T. R., Kaya O. O., Guvenc M. S., ...Daha Fazla

CLINICAL GENETICS, cilt.92, sa.4, ss.372-379, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 92 Sayı: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1111/cge.12978
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.372-379
  • Anahtar Kelimeler: CNV, microarray, microdeletion, microduplication, optima, pathogenic, Turkish, VOUS, ZNF107, HUMAN GENOME, NUMBER, MAP
  • Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

BackgroundChromosomal microarray analysis is the first-tier test for the evaluation of developmental disabilities and congenital anomalies. In this report, we present CMA results of 971 patient and 301 parent samples.