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MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1759
By:
- Guevara‐Fujita, María Luisa;
- Huaman‐Dianderas, Francia;
- Obispo, Daisy;
- Sánchez, Rodrigo;
- Barrenechea, Victor;
- Rojas‐Málaga, Diana;
- Estrada‐Cuzcano, Alejandro;
- Trubnykova, Milana;
- Cornejo‐Olivas, Mario;
- Marca, Victoria;
- Gallardo, Bertha;
- Dueñas‐Roque, Milagros;
- Protzel, Ana;
- Castañeda, Carlos;
- Abarca, Hugo;
- Celis, Luis;
- La Serna‐Infantes, Jorge;
- Fujita, Ricardo
Publication type:
Article
Impact of genetic background as a risk factor for atherosclerotic cardiovascular disease: A protocol for a nationwide genetic case-control (CV-GENES) study in Brazil.
Published in:
PLoS ONE, 2024, v. 19, n. 3, p. 1, doi. 10.1371/journal.pone.0289439
By:
- Alves de Oliveira Junior, Haliton;
- de Menezes Neves, Precil Diego Miranda;
- de Figueiredo Oliveira, Gustavo Bernardes;
- Moreira, Frederico Rafael;
- Pintão, Maria Carolina Tostes;
- Rocha, Viviane Zorzanelli;
- de Souza Rocha, Cristiane;
- Katz, Viviane Nakano;
- Ferreira, Elisa Napolitano;
- Rojas-Málaga, Diana;
- Viana, Celso Ferraz;
- da Silva, Fabiula Fagundes;
- Vidotti, Juliete Jorge;
- Felicio, Natalia Mariana;
- de Araújo Vitor, Leticia;
- Cesar, Karina Gimenez;
- Araújo da Silva, Camila;
- de Oliveira Alves, Lucas Bassolli;
- Avezum, Álvaro
Publication type:
Article
Precision Medicine for Lysosomal Disorders.
Published in:
Biomolecules (2218-273X), 2020, v. 10, n. 8, p. 1110, doi. 10.3390/biom10081110
By:
- Pinto e Vairo, Filippo;
- Rojas Málaga, Diana;
- Kubaski, Francyne;
- Fischinger Moura de Souza, Carolina;
- de Oliveira Poswar, Fabiano;
- Baldo, Guilherme;
- Giugliani, Roberto
Publication type:
Article
STANDARDIZATION OF AN ORGANIC DNA EXTRACTION METHOD FROM DRIED BLOOD SPOTS AND ITS DOWNSTREAM MOLECULAR APPLICATIONS IN NEONATAL SCREENING AND DIAGNOSTIC CONFIRMATION OF LYSOSOMAL DISORDERS.
Published in:
Clinical & Biomedical Research, 2022, v. 42, n. 3, p. 218, doi. 10.22491/2357-9730.114246
By:
- Oliveira Netto, Alice Brinckmann;
- Rojas Málaga, Diana;
- Kubaski, Francyne;
- Carolina Brusius-Facchin, Ana;
- Giugliani, Roberto
Publication type:
Article

Found: 4

MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.

Impact of genetic background as a risk factor for atherosclerotic cardiovascular disease: A protocol for a nationwide genetic case-control (CV-GENES) study in Brazil.

Precision Medicine for Lysosomal Disorders.

STANDARDIZATION OF AN ORGANIC DNA EXTRACTION METHOD FROM DRIED BLOOD SPOTS AND ITS DOWNSTREAM MOLECULAR APPLICATIONS IN NEONATAL SCREENING AND DIAGNOSTIC CONFIRMATION OF LYSOSOMAL DISORDERS.