Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Joana Soraia Martinheira da Silva"'
Autor:
Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Joana Soraia Martinheira da Silva, Barbara Testa, Simona Baldassari, Federico Zara, Gilberto Filaci, Domenico Coviello, Michela Malacarne
Publikováno v:
Stem Cell Research, Vol 76, Iss , Pp 103324- (2024)
Sotos syndrome (SoS) is a neurodevelopmental disorder that results from NSD1 mutations that cause haploinsufficiency of NSD1. Here, we generated an induced pluripotent stem cell (iPSC) line from fibroblasts of a SoS patient carrying the pathogenic va
Externí odkaz:
https://doaj.org/article/f7c12dd6f9e343cf8cf32593503f2226
Autor:
Elisa Tassano, Sara Uccella, Patrizia Ronchetto, Joana Soraia Martinheira Da Silva, Silvia Viaggi, Margherita Mancardi, Luca Ramenghi, Alessandra Murri, Marina Biondi, Giorgio Gimelli, Cristina Morerio, Michela Malacarne, Domenico Coviello
Publikováno v:
Cytogenetic and Genome Research. 162:132-139
Interstitial 2q24.2q24.3 microdeletions are rare cytogenetic aberrations associated with heterogeneous clinical features depending on the size of the deletion. Here, we describe 2 patients with overlapping de novo 2q24.2q24.3 deletions, characterized