Search Results - "Neri, João I. C. F."

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis by Rosset, Clévia, Vairo, Filippo, Bandeira, Isabel Cristina, Correia, Rudinei Luis, de Goes, Fernanda Veiga, da Silva, Raquel Tavares Boy, Bueno, Larissa Souza Mario, de Miranda Gomes, Mireille Caroline Silva, Galvão, Henrique de Campos Reis, Neri, João I C F, Achatz, Maria Isabel, Netto, Cristina Brinckmann Oliveira, Ashton-Prolla, Patricia

“…Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by the development of multiple hamartomas in many organs and…”
Get full text

The phenotypic spectrum of congenital Zika syndrome by del Campo, Miguel, Feitosa, Ian M. L., Ribeiro, Erlane M., Horovitz, Dafne D. G., Pessoa, André L. S., França, Giovanny V. A., García‐Alix, Alfredo, Doriqui, Maria J. R., Wanderley, Hector Y. C., Sanseverino, Maria V. T., Neri, João I. C. F., Pina‐Neto, João M., Santos, Emerson S., Verçosa, Islane, Cernach, Mirlene C. S. P., Medeiros, Paula F. V., Kerbage, Saile C., Silva, André A., van der Linden, Vanessa, Martelli, Celina M. T., Cordeiro, Marli T., Dhalia, Rafael, Vianna, Fernanda S. L., Victora, Cesar G., Cavalcanti, Denise P., Schuler‐Faccini, Lavinia

“…In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task…”
Get full text

Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital Microcephaly by Anderson, Denise, Neri, João I C F, Souza, Cássio R M, Valverde, Joanna G, De Araújo, Josélio M G, Nascimento, Maria D S B, Branco, Rebeca C C, Arrais, Nivia M R, Lassmann, Timo, Blackwell, Jenefer M, Jeronimo, Selma M B

“…Abstract The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters…”
Get full text

Reference exome data for a Northern Brazilian population by Weeks, Alexia L., Francis, Richard W., Neri, Joao I. C. F., Costa, Nathaly M. C., Arrais, Nivea M. R., Lassmann, Timo, Blackwell, Jenefer M., Jeronimo, Selma M. B.

“…Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not…”
Get full text

Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study by Horovitz, Dafne D.G., Leão, Emília K.E.A., Ribeiro, Erlane M., Martins, Ana M., Barth, Anneliese L., Neri, João I.C.F., Kerstenetzky, Marcelo, Siqueira, Ana C.M., Ribeiro, Bethania F.R., Kim, Chong A., Santos, Francisca C., Franco, José F.S., Lichtvan, Leniza C.L., Giuliani, Liane R., Rodrigues, Maria Do C.S., Bonatti, Renata C.F., Teixeira, Thaís B., Gonçalves, Alexandra, Lourenço, Charles M., Pereira, Ane S.S., Acosta, Angelina X.

“…Patients with mucopolysaccharidosis type VI (MPS VI) present with a wide range of disease severity and clinical manifestations, with significant functional…”
Get full text