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of 4
pro vyhledávání: '"Régis Afonso Costa"'
Autor:
Régis Afonso Costa, Igor Ribeiro Ferreira, Hiago Azevedo Cintra, Leonardo Henrique Ferreira Gomes, Letícia da Cunha Guida
Publikováno v:
Frontiers in Endocrinology, Vol 10 (2019)
Prader-Willi syndrome (PWS) is a complex imprinting disorder related to genomic errors that inactivate paternally-inherited genes on chromosome 15q11-q13 with severe implications on endocrine, cognitive and neurologic systems, metabolism, and behavio
Externí odkaz:
https://doaj.org/article/cc986c034c1b4f969ead708e506dbc24
Autor:
Juan Clinton Llerena Junior, Igor Ribeiro Ferreira, Zilton Vasconcelos, Robert D. Nicholls, Latife Salomão Tyszler, Leticia Guida, Wilton Darleans dos Santos Cunha, Silvia Freitas, Régis Afonso Costa, Leonardo Henrique Ferreira Gomes
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Scientific Reports
Scientific Reports
Prader-Willi (PWS) and Angelman (AS) syndromes are two clinically distinct imprinted disorders characterized by genetic abnormalities at 15q11-q13. Early diagnosis of both syndromes provides improved treatment and accurate genetic counseling. Whole b
Autor:
Leonardo Henrique Ferreira Gomes, Leticia Guida, Hiago Azevedo Cintra, Régis Afonso Costa, Igor Ribeiro Ferreira
Publikováno v:
Frontiers in Endocrinology, Vol 10 (2019)
Frontiers in Endocrinology
Frontiers in Endocrinology
Prader-Willi syndrome (PWS) is a complex imprinting disorder related to genomic errors that inactivate paternally-inherited genes on chromosome 15q11-q13 with severe implications on endocrine, cognitive and neurologic systems, metabolism, and behavio
Autor:
Evandro Lucena, Camila Matzenbacher Bittar, Raquel Hora Barbosa, Cibele R. Bonvicino, Patrícia Ashton Prolla, Héctor N. Seuánez, Fernanda C. C. Aguiar, Régis Afonso Costa, Mirian Carvalho de Souza, Liz Maria de Almeida, Morgana F. L. Silva, Fernando Regla Vargas
Publikováno v:
Investigative ophthalmologyvisual science. 54(5)
PURPOSE: To identify constitutional alterations of the retinoblastoma 1 gene (RB1) in two cohorts of Brazilian patients with retinoblastoma and to analyze genotype-phenotype associations. METHODS: Molecular screening was carried out by direct sequenc