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., ...More

MOLECULAR GENETICS & GENOMIC MEDICINE, vol.9, no.1, 2021 (SCI-Expanded, Scopus)

Publication Type: Article / Review
Volume: 9 Issue: 1
Publication Date: 2021
Doi Number: 10.1002/mgg3.1529
Journal Name: MOLECULAR GENETICS & GENOMIC MEDICINE
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, EMBASE, MEDLINE, Directory of Open Access Journals
Keywords: genetic diagnosis, lymphedema, Next Generation Sequencing (NGS), NOTCH1
Erciyes University Affiliated: Yes

Abstract

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.