Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review
Perrone, Eduardo, Cavole, Thiago R., Oliveira, Manuella G., Virmond, Luiza do A., Silva, Marina de França B., Soares, Maria de Fatima F., Iglesias, Simone Brasil de O., Falconi, Ariane, Silva, Juliana S., Nakano, Viviane, Milanezi, Maria Fernanda, Mendes, Carmen Silvia C., Curiati, Marco Antonio, Micheletti, Cecília
Published in Genetics and molecular biology (01.01.2020)
Published in Genetics and molecular biology (01.01.2020)
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A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review
Galvão de Oliveira, Manuella, Tengan, Célia, Micheletti, Cecília, Ramos de Macedo, Paloma, Soares Pinho Cernach, Mirlene Cecília, Cavole, Thiago Rodrigues, de França Basto, Marina, Filho, Joselito Sobreira, Virmond, Luiza Amaral, Milanezi, Fernanda, Nakano, Viviane, Falconi, Ariane, Perrone, Eduardo
Published in European journal of medical genetics (01.05.2021)
Published in European journal of medical genetics (01.05.2021)
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Molecular analysis of homocystinuria in Brazilian patients
Porto, Marianna P.R., Galdieri, Luciano C., Pereira, Vanessa G., Vergani, Naja, da Rocha, José Cláudio C., Micheletti, Cecília, Martins, Ana Maria, Perez, Ana Beatriz A., D`Almeida, Vânia
Published in Clinica chimica acta (01.12.2005)
Published in Clinica chimica acta (01.12.2005)
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Blood oxidative stress markers in Gaucher disease patients
Roversi, Fernanda M., Galdieri, Luciano C., Grego, Bruno H.C., Souza, Fernanda G., Micheletti, Cecília, Martins, Ana Maria, D'Almeida, Vânia
Published in Clinica chimica acta (01.02.2006)
Published in Clinica chimica acta (01.02.2006)
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Congenital afibrinogenemia in a patient with vascular abnormalities and a novel variant: clinical-molecular description and literature review
Virmond, Luiza A, Micheletti, Cecilia, Pinto, Christiane M S, Soares, Maria F F, Milanezi, Fernanda, Nakano, Viviane, Perrone, Eduardo
Published in Blood coagulation & fibrinolysis (01.01.2020)
Published in Blood coagulation & fibrinolysis (01.01.2020)
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Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease
Silva, Sandra Marques E, Chaves, Andrea Virginia Ferreira, Antunes, Murillo, Costabel, Juan Pablo, da Fonseca, Armando Alves, Furtado, Adriana, Gomez-Mesa, Juan Esteban, Gutiérrez, Francisco Javier Marin, Caspi, Oren, Maksimova, Irina, Maski, Manish, Micheletti, Cecilia, Pena, José Luiz Barros, Ribeiro, Márcia Gonçalves, Rodríguez-González, Maria Juliana, Tufekcioglu, Omac, Onay, Huseyin
Published in Cardiovascular diagnosis and therapy (30.04.2024)
Published in Cardiovascular diagnosis and therapy (30.04.2024)
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Menkes disease: case report of an uncommon presentation with white matter lesions
Santos, L M, Teixeira Cd, Vilanova, L C, Micheletti, C, Mendes, C S, Borri, M L, Martins, A M
Published in Arquivos de neuro-psiquiatria (01.03.2001)
Published in Arquivos de neuro-psiquiatria (01.03.2001)
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