Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Letícia Lopes Cabral Guimarães da Fonseca"'
Autor:
Hiago Azevedo Cintra, Igor Ribeiro Ferreira, Elenice Ferreira Bastos, Leonardo Henrique Ferreira Gomes, Wilton Darleans dos Santos Cunha, Leticia Guida, Zilton Vasconcelos, Letícia Lopes Cabral Guimarães da Fonseca, Juan C. Llerena
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Background Prader Willi (PWS) and Angelman (AS) syndromes are rare genetic disorders characterized by deletions, uniparental disomy, and imprinting defects at chromosome 15. The loss of function of specific genes caused by genetic alterations in pate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f220ecf1d675e0b272d6ce488de4a1bc
http://europepmc.org/articles/PMC6565559
http://europepmc.org/articles/PMC6565559
Autor:
Vera Lúcia da Silva Moura, Lúcia de Fátima Marques de Moraes, Elenice Ferreira Bastos, Anna Luiza Vaz Serrão, Patrícia Santana Correia, Carlos Roberto da Fonseca, Letícia Lopes Cabral Guimarães da Fonseca, Luana Luana Silva, Cristiane Queila Ebraim Santos, Juan C. Llerena, Kleber da Silva Figueiredo
Publikováno v:
Semina: Ciências Biológicas e da Saúde. 38:248
Síndrome de Angelman (SA) é um transtorno neurocognitivo caracterizado por retardo motor e intelectual grave, distúrbio de movimento ou equilíbrio, comportamentos anormais típicos e limitações graves na fala e na linguagem, hipotonia e epileps
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e133401f12f067314b76bd5d9a45fff
https://doi.org/10.5433/1679-0367.2017v38n1suplp248
https://doi.org/10.5433/1679-0367.2017v38n1suplp248
Autor:
Juan C. Llerena, Letícia Lopes Cabral Guimarães da Fonseca, Elenice Ferreira Bastos, Nivea H.C. Aquino
Publikováno v:
Genetic Testing. 6:129-131
Among several genetic diseases that comprise mental retardation, Angelman syndrome (AS) has been extensively recognized and investigated. In the general population, the syndrome occurs in about 1 in 20,000 live births and its prevalence in severely m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e3e556c93a41638c936d76757e67d93
https://doi.org/10.1089/10906570260199393
https://doi.org/10.1089/10906570260199393