Three generation families: Analysis of de novo variants in autism
Costa, Claudia I Samogy, da Silva Campos, Gabriele, da Silva Montenegro, Eduarda Morgana, Wang, Jaqueline Yu Ting, Scliar, Marília, Monfardini, Frederico, Zachi, Elaine Cristina, Lourenço, Naila C V, Chan, Ada J S, Pereira, Sergio L, Engchuan, Worrawat, Thiruvahindrapuram, Bhooma, Zarrei, Mehdi, Scherer, Stephen W, Passos-Bueno, Maria Rita
Published in European journal of human genetics : EJHG (01.09.2023)
Published in European journal of human genetics : EJHG (01.09.2023)
Get full text
Journal Article
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy
Moreira, Danielle P, Griesi-Oliveira, Karina, Bossolani-Martins, Ana L, Lourenço, Naila C V, Takahashi, Vanessa N O, da Rocha, Kátia M, Moreira, Eloisa S, Vadasz, Estevão, Meira, Joanna Goes Castro, Bertola, Debora, O'Halloran, Eoghan, Magalhães, Tiago R, Fett-Conte, Agnes C, Passos-Bueno, Maria Rita
Published in PloS one (25.09.2014)
Published in PloS one (25.09.2014)
Get full text
Journal Article
Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort
da Silva Montenegro, Eduarda Morgana, Costa, Claudia Samogy, Campos, Gabriele, Scliar, Marília, de Almeida, Tatiana Ferreira, Zachi, Elaine Cristina, Silva, Isabela Maya Wahys, Chan, Ada J S, Zarrei, Mehdi, Lourenço, Naila C V, Yamamoto, Guilherme Lopes, Scherer, Stephen, Passos-Bueno, Maria Rita
Published in Autism research (01.02.2020)
Published in Autism research (01.02.2020)
Get more information
Journal Article
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report
Cuperman, Thais, Fernandes, Stephanie A, Lourenço, Naila C V, Yamamoto, Lydia U, Silva, Helga C A, Pavanello, Rita C M, Yamamoto, Guilherme L, Zatz, Mayana, Oliveira, Acary S B, Vainzof, Mariz
Published in BMC research notes (01.08.2014)
Published in BMC research notes (01.08.2014)
Get full text
Journal Article
Development of a comprehensive noninvasive prenatal test
Malcher, Carolina, Yamamoto, Guilherme L, Burnham, Philip, Ezquina, Suzana A M, Lourenço, Naila C V, Balkassmi, Sahilla, Antonio, David S Marco, Hsia, Gabriella S P, Gollop, Thomaz, Pavanello, Rita C, Lopes, Marco Antonio, Bakker, Egbert, Zatz, Mayana, Bertola, Débora, Vlaminck, Iwijn De, Passos-Bueno, Maria Rita
Published in Genetics and molecular biology (01.07.2018)
Published in Genetics and molecular biology (01.07.2018)
Get full text
Journal Article
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 IT pathogenic mutation in central core disease: a case report
Cuperman, Thais, Fernandes, Stephanie A, Lourenço, Naila CV, Yamamoto, Lydia U, Silva, Helga CA, Pavanello, Rita CM, Yamamoto, Guilherme L, Zatz, Mayana, Oliveira, Acary SB, Vainzof, Mariz
Published in BMC research notes (01.08.2014)
Published in BMC research notes (01.08.2014)
Get full text
Journal Article