NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants


Michelini S., Ricci M., Serrani R., Barati S., Kenanoglu S., Veselenyiova D., ...Daha Fazla

MOLECULAR GENETICS & GENOMIC MEDICINE, cilt.9, sa.1, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 9 Sayı: 1
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1002/mgg3.1529
  • Dergi Adı: MOLECULAR GENETICS & GENOMIC MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, EMBASE, MEDLINE, Directory of Open Access Journals
  • Anahtar Kelimeler: genetic diagnosis, lymphedema, Next Generation Sequencing (NGS), NOTCH1
  • Erciyes Üniversitesi Adresli: Evet

Özet

Background: We developed a Next-Generation-Sequencing (NGS) protocol to screen the most frequent genetic variants related to lymphedema and a group of candidate genes. The aim of the study was to find the genetic cause of lymphedema in the analyzed patients.