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

Michelini, Sandro; Ricci, Maurizio; Serrani, Roberta; Barati, Shila; Kenanoglu, Sercan; Veselenyiova, Dominika; Kurti, Danjela; Baglivo, Mirko; Basha, Syed; Priya, Sasi; Dautaj, Astrit; DÜNDAR, MUNİS; Krajcovic, Juraj; Bertelli, Matteo

doi:10.1002/mgg3.1529

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, Scopus)

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.