Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Hiago Azevedo Cintra"'
Autor:
Hiago Azevedo Cintra, Danielle Nascimento Rocha, Ana Carolina Carioca da Costa, Latife Salomão Tyszler, Silvia Freitas, Leonardo Abreu de Araujo, Lisanne Incoutto Crozoe, Luísa Ribeiro de Paula, Patricia Santana Correia, Leonardo Henrique Ferreira Gomes, Letícia da Cunha Guida
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic counseling and prognosis
Externí odkaz:
https://doaj.org/article/c32942ccee0a44c2b040003739d3ee24
Autor:
Letícia Lopes Cabral Guimarães da Fonseca, Danielle Nascimento Rocha, Hiago Azevedo Cintra, Luiza Loureiro de Araújo, Gabrielle Leal Monteiro dos Santos, Leonardo Lima de Faria, Margarida dos Santos Salú, Silvia Helena dos Santos Leite, Adriana Duarte Rocha, Maria da Conceição Borges Lopes, Igor Ribeiro Ferreira, Leonardo Henrique Ferreira Gomes, Letícia Cunha Guida
Publikováno v:
Genes, Vol 15, Iss 5, p 641 (2024)
Background: Diagnosing imprinting defects in neonates and young children presents challenges, often necessitating molecular analysis for a conclusive diagnosis. The isolation of genetic material from oral swabs becomes crucial, especially in settings
Externí odkaz:
https://doaj.org/article/9c3dc174f87b4b7cb2804dc1697d8c85
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:
Igor Ribeiro Ferreira, Wilton Darleans dos Santos Cunha, Leonardo Henrique Ferreira Gomes, Hiago Azevedo Cintra, Letícia Lopes Cabral Guimarães Fonseca, Elenice Ferreira Bastos, Juan Clinton Llerena Jr., Zilton Farias Meira de Vasconcelos, Letícia daCunha Guida
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Abstract 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 alteration
Externí odkaz:
https://doaj.org/article/844a29158d6e4aa6bd6f854a02a4e891
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:
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