Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)

por Zamariolli, Malú, Colovati, Mileny, Moysés‐Oliveira, Mariana, Nunes, Natália, Caires dos Santos, Leonardo, Alvarez Perez, Ana B., Bragagnolo, Silvia, Melaragno, Maria Isabel
Publicado 2019

Copy number variation (CNV) identification, interpretation, and database from Brazilian patients

por de Godoy, Victória Cabral Silveira Monteiro, Bellucco, Fernanda Teixeira, Colovati, Mileny, de Oliveira-Junior, Hélio Rodrigues, Moysés-Oliveira, Mariana, Melaragno, Maria Isabel
Publicado 2020

The impact of 22q11.2 copy-number variants on human traits in the general population

por Zamariolli, Malú, Auwerx, Chiara, Sadler, Marie C., van der Graaf, Adriaan, Lepik, Kaido, Schoeler, Tabea, Moysés-Oliveira, Mariana, Dantas, Anelisa G., Melaragno, Maria Isabel, Kutalik, Zoltán
Publicado 2023

Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations

por Di-Battista, Adriana, Favilla, Bianca Pereira, Zamariolli, Malú, Nunes, Natália, Defelicibus, Alexandre, Armelin-Correa, Lucia, da Silva, Israel Tojal, Reymond, Alexandre, Moyses-Oliveira, Mariana, Melaragno, Maria Isabel
Publicado 2023

The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene

por Carvalheira, Gianna, Malinverni, Andrea M, Moysés-Oliveira, Mariana, Ueta, Renata, Cardili, Leonardo, Monteagudo, Patrícia, Mathez, Andreia L G, Verreschi, Ieda T, Maluf, Miguel A, Shida, Márcia E F, Leite, Mila T C, Mazzotti, Diego, Melaragno, Maria Isabel, Dias-da-Silva, Magnus R
Publicado 2019