The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023

Autor: Caio Robledo D’Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Michele Araújo Pereira, Anne Caroline Barbosa Teixeira, Renata Yoshiko Yamada, Vivian Pedigone Cintra, Eduardo Perrone, Marina De França, Kelin Chen, Renata Moldenhauer Minillo, Cheysa Arielly Biondo, Mariana Rezende Bandeira de Mello, Lais Rodrigues Moura, Amanda Thamires Batista do Nascimento, Karla de Oliveira Pelegrino, Larissa Barbosa de Lima, Luiza do Amaral Virmond, Carolina Araujo Moreno, Joana Rosa Marques Prota, Jessica Grasiela de Araujo Espolaor, Thiago Yoshinaga Tonholo Silva, Gabriel Hideki Izuka Moraes, Gustavo Santos de Oliveira, Livia Maria Silva Moura, Marcel Pinheiro Caraciolo, Rafael Lucas Muniz Guedes, Michel Chieregato Gretschischkin, Pedro Lui Nigro Chazanas, Carolina Naomi Izo Nakamura, Rodrigo de Souza Reis, Carmen Melo Toledo, Fernanda Stussi Duarte Lage, Giovanna Bloise de Almeida, José Bandeira do Nascimento Júnior, Milena Andreuzo Cardoso, Victor de Paula Azevedo, Tatiana Ferreira de Almeida, Murilo Castro Cervato, Joao Bosco de Oliveira Filho

Publikováno v: Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)

Abstract Background Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of the vast amount of genomic data it generates can be challenging. To address this, the American College of Medical Gene

Externí odkaz: https://doaj.org/article/0c95d03f938a4487814f7372787d1492

Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review

Autor: Eduardo Perrone, Thiago R. Cavole, Manuella G. Oliveira, Luiza do A. Virmond, Marina de França B. Silva, Maria de Fatima F. Soares, Simone Brasil de O. Iglesias, Ariane Falconi, Juliana S. Silva, Viviane Nakano, Maria Fernanda Milanezi, Carmen Silvia C. Mendes, Marco Antonio Curiati, Cecília Micheletti

Publikováno v: Genetics and Molecular Biology, Vol 43, Iss 2

Abstract Leigh syndrome is an early onset progressive disorder caused by defects in mitochondrial oxidative phosphorylation. Pathogenic variants in nuclear and mitochondrial genes are associated with the syndrome. Homozygous pathogenic variants in th

Externí odkaz: https://doaj.org/article/2f1f09fcfc734a228042c192e1b5226d

Congenital afibrinogenemia in a patient with vascular abnormalities and a novel variant: clinical-molecular description and literature review

Autor: Fernanda Milanezi, Christiane M S Pinto, Viviane Nakano, Cecília Micheletti, Maria Fernanda Soares, Eduardo Perrone, Luiza do Amaral Virmond

Publikováno v: Blood Coagulation & Fibrinolysis. 31:65-70

The objective is to report a patient with congenital afibrinogenemia and vascular abnormalities and also review the clinical and molecular issues. The female proband, diagnosed with congenital afibrinogenemia, was admitted at a hospital due to a hemo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5470a88b29962b27d0e60d71e63014ba
https://doi.org/10.1097/mbc.0000000000000867

Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review

Autor: Luiza do Amaral Virmond, Maria de Fátima de Faria Soares, Simone Brasil de Oliveira Iglesias, Juliana Silva, Marco A. Curiati, Maria Fernanda Milanezi, Carmen Mendes, Marina de França B. Silva, Cecília Micheletti, Thiago Rodrigues Cavole, Viviane Nakano, Eduardo Perrone, Manuella Galvão de Oliveira, Ariane Falconi

Publikováno v: Genetics and Molecular Biology, Vol 43, Iss 2
Genetics and Molecular Biology, Volume: 43, Issue: 2, Article number: e20180271, Published: 29 MAY 2020
Genetics and Molecular Biology

Leigh syndrome is an early onset progressive disorder caused by defects in mitochondrial oxidative phosphorylation. Pathogenic variants in nuclear and mitochondrial genes are associated with the syndrome. Homozygous pathogenic variants in the C12orf6

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::866281f81dd739fe7116be0e2ae77e04
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400109&lng=en&tlng=en