Search Results - "Azevedo Cintra, Hiago"

A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients by Ribeiro Ferreira, Igor, Darleans dos Santos Cunha, Wilton, Henrique Ferreira Gomes, Leonardo, Azevedo Cintra, Hiago, Lopes Cabral Guimarães Fonseca, Letícia, Ferreira Bastos, Elenice, Clinton Llerena, Juan, Farias Meira de Vasconcelos, Zilton, Cunha Guida, Letícia

“…Background Prader Willi (PWS) and Angelman (AS) syndromes are rare genetic disorders characterized by deletions, uniparental disomy, and imprinting defects at…”
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Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil by Cintra, Hiago Azevedo, Rocha, Danielle Nascimento, da Costa, Ana Carolina Carioca, Tyszler, Latife Salomão, Freitas, Silvia, de Araujo, Leonardo Abreu, Crozoe, Lisanne Incoutto, de Paula, Luísa Ribeiro, Correia, Patricia Santana, Gomes, Leonardo Henrique Ferreira, da Cunha Guida, Letícia

“…Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and…”
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Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome by Costa, Régis Afonso, Ferreira, Igor Ribeiro, Cintra, Hiago Azevedo, Gomes, Leonardo Henrique Ferreira, Guida, Letícia da Cunha

“…Prader-Willi syndrome (PWS) is a complex imprinting disorder related to genomic errors that inactivate paternally-inherited genes on chromosome 15q11-q13 with…”
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Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader-Willi and Angelman Syndromes: A Preliminary Investigation by da Fonseca, Letícia Lopes Cabral Guimarães, Rocha, Danielle Nascimento, Cintra, Hiago Azevedo, de Araújo, Luiza Loureiro, Dos Santos, Gabrielle Leal Monteiro, de Faria, Leonardo Lima, Salú, Margarida Dos Santos, Leite, Silvia Helena Dos Santos, Rocha, Adriana Duarte, Lopes, Maria da Conceição Borges, Ferreira, Igor Ribeiro, Gomes, Leonardo Henrique Ferreira, Guida, Letícia Cunha

“…Diagnosing imprinting defects in neonates and young children presents challenges, often necessitating molecular analysis for a conclusive diagnosis. The…”
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