Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Highlight article: Whole-exome sequencing indicates FLG2 variant associated with leg ulcers in Brazilian sickle cell anemia patients

Autor: de Carvalho-Siqueira, Gabriela Queila, Ananina, Galina, de Souza, Bruno Batista, Borges, Murilo Guimarães, Ito, Mirta Tomie, da Silva-Costa, Sueli Matilde, de Farias Domingos, Igor, Falcão, Diego Arruda, Lopes-Cendes, Iscia, Bezerra, Marcos André Cavalcanti, da Silva Araújo, Aderson, Lucena-Araújo, Antônio Roberto, de Souza Gonçalves, Marilda, Saad, Sara Teresinha Olalla, Costa, Fernando Ferreira, de Melo, Mônica Barbosa

Publikováno v: Exp Biol Med (Maywood)

Although sickle cell anemia results from homozygosity for a single mutation at position 7 of the β-globin chain, the clinical aspects of this condition are very heterogeneous. Complications include leg ulcers, which have a negative impact on patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3222e5c88bbbc92562fbbb9bd3f13cbf
https://europepmc.org/articles/PMC6690137/

Proliferative Sickle Cell Retinopathy in SS and SC Hemoglobinopathies: Identification of New Candidate Genes

Autor: da Silva Costa, Sueli Matilde ^*, Ito, Mirta Tomie ^*, Souza, Bruno Batista ^*, Cruz, Pedro Rodrigues Souza ^*, Bapista, Letícia de Carvalho ^*, Rios, Vinicius Mandolesi ^*, Viturino, Marina Gonçalves Monteiro ^*, Pietro, Stephanie Ospina ^*, Ozelo, Margareth C, Costa, Fernando F., Melo, Monica Barbosa ^*

Publikováno v: In Blood 29 November 2018 132 Supplement 1:2368-2368

Whole-exome sequencing indicates FLG 2 variant associated with leg ulcers in Brazilian sickle cell anemia patients.

Autor: de Carvalho-Siqueira GQ; 1 Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas, Campinas, SP 13083-875, Brazil., Ananina G; 1 Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas, Campinas, SP 13083-875, Brazil., de Souza BB; 1 Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas, Campinas, SP 13083-875, Brazil., Borges MG; 2 Department of Medical Genetics and Genome Medicine, Faculty of Medical Sciences, University of Campinas, Campinas, SP 13083-887, Brazil., Ito MT; 1 Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas, Campinas, SP 13083-875, Brazil., da Silva-Costa SM; 1 Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas, Campinas, SP 13083-875, Brazil., de Farias Domingos I; 3 Genetics Postgraduate Program, Federal University of Pernambuco, Recife, PE 50670-901, Brazil., Falcão DA; 3 Genetics Postgraduate Program, Federal University of Pernambuco, Recife, PE 50670-901, Brazil., Lopes-Cendes I; 2 Department of Medical Genetics and Genome Medicine, Faculty of Medical Sciences, University of Campinas, Campinas, SP 13083-887, Brazil., Bezerra MAC; 3 Genetics Postgraduate Program, Federal University of Pernambuco, Recife, PE 50670-901, Brazil., da Silva Araújo A; 4 Hematology and Hemotherapy Foundation of Pernambuco, Recife, PE 52011-000, Brazil., Lucena-Araújo AR; 3 Genetics Postgraduate Program, Federal University of Pernambuco, Recife, PE 50670-901, Brazil., de Souza Gonçalves M; 5 Gonçalo Moniz Institute (Fiocruz), Salvador, BA 40296-710, Brazil., Saad STO; 6 Hematology and Hemotherapy Center, University of Campinas, Campinas, SP 13083-878, Brazil., Costa FF; 6 Hematology and Hemotherapy Center, University of Campinas, Campinas, SP 13083-878, Brazil., de Melo MB; 1 Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas, Campinas, SP 13083-875, Brazil.

Publikováno v: Experimental biology and medicine (Maywood, N.J.) [Exp Biol Med (Maywood)] 2019 Aug; Vol. 244 (11), pp. 932-939. Date of Electronic Publication: 2019 May 12.