Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Katia M. da Rocha"'
Autor:
Mateus V. de Castro, Monize V.R. Silva, Luana de M. Oliveira, Sarah C. Gozzi-Silva, Michel S. Naslavsky, Marilia O. Scliar, Monize L. Magalhães, Katia M. da Rocha, Kelly Nunes, Erick C. Castelli, Jhosiene Y. Magawa, Keity S. Santos, Edecio Cunha-Neto, Maria N. Sato, Mayana Zatz
Publikováno v:
International Journal of Infectious Diseases, Vol 129, Iss , Pp 207-215 (2023)
Objectives: The X-chromosome contains the largest number of immune-related genes, which play a major role in COVID-19 symptomatology and susceptibility. Here, we had a unique opportunity to investigate, for the first time, COVID-19 outcomes in six un
Externí odkaz:
https://doaj.org/article/4a8cac97374b47869c441dff7995f234
Autor:
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in ex
Externí odkaz:
https://doaj.org/article/440a8175bc6a4b288c26413ff92775b4