Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Joao I C F Neri"'
Autor:
Bethania F.R. Ribeiro, Dafne Dain Gandelman Horovitz, Ana Cecília Menezes de Siqueira, Renata C.F. Bonatti, José Francisco da Silva Franco, Erlane Marques Ribeiro, Charles Marques Lourenço, Alexandra Gonçalves, Angelina Xavier Acosta, Ane S.S. Pereira, Liane de Rosso Giuliani, Joao I. C. F. Neri, Chong Ae Kim, Leniza C.L. Lichtvan, Anneliese Lopes Barth, Emília Katiane Embiruçu de Araújo Leão, Marcelo Kerstenetzky, Ana Maria Martins, Thaís B. Teixeira, Maria do Carmo S. Rodrigues, Francisca C. Santos
Publikováno v:
Molecular genetics and metabolism. 133(1)
Patients with mucopolysaccharidosis type VI (MPS VI) present with a wide range of disease severity and clinical manifestations, with significant functional impairment and shortened lifespan. Enzyme replacement therapy (ERT) with galsulfase has been s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe565b09ab8026747e88a4cb4c37d2a9
https://pubmed.ncbi.nlm.nih.gov/33678523
https://pubmed.ncbi.nlm.nih.gov/33678523
Autor:
Nivea M R Arrais, Selma M B Jeronimo, Alexia L. Weeks, Jenefer M. Blackwell, Joao I C F Neri, Nathaly M Coelho da Costa, Timo Lassmann, Richard W. Francis
Publikováno v:
Scientific Data
Scientific Data, Vol 7, Iss 1, Pp 1-5 (2020)
Scientific Data, Vol 7, Iss 1, Pp 1-5 (2020)
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 always adequate population-specific reference data to assist in assigning a diagnostic variant t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6acf9fe88c4ed9cdfcb5e5618707a15a
Autor:
Selma M B Jeronimo, Nivia Maria Rodrigues Arrais, Cássio R. M. Souza, Maria do Desterro Soares Brandão Nascimento, Denise Anderson, Jenefer M. Blackwell, Joanna G. Valverde, Josélio Maria Galvão de Araújo, Joao I C F Neri, Timo Lassmann, Rebeca Costa Castelo Branco
Publikováno v:
The Journal of infectious diseases. 223(3)
The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f409e2b426e839a9ca60bb722cca061d
https://pubmed.ncbi.nlm.nih.gov/32614431
https://pubmed.ncbi.nlm.nih.gov/32614431
Autor:
Lavinia Schuler-Faccini, Miguel Del Campo, Marli Tenório Cordeiro, Dafne Dain Gandelman Horovitz, Mirlene C. S. P. Cernach, Erlane Marques Ribeiro, Vanessa van der Linden, André Pessoa, Giovanny Vinícius Araújo de França, João Monteiro de Pina-Neto, Islane Verçosa, Maria V T Sanseverino, Héctor Yuri Conti Wanderley, Cesar G. Victora, Fernanda Sales Luiz Vianna, Maria Juliana Rodovalho Doriqui, Paula Frassinetti Vasconcelos de Medeiros, Celina Maria Turchi Martelli, Rafael Dhalia, André Anjos da Silva, Alfredo García-Alix, Denise P. Cavalcanti, Joao I. C. F. Neri, Ian M. L. Feitosa, Emerson de Santana Santos, Sáile Cavalcante Kerbage Kerbage
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task force (SBGM-ZETF) to study the phenotype of infants born with microcephaly due to ZIKV conge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ff9645b58be20e1457b0c884302968
https://pubmed.ncbi.nlm.nih.gov/28328129
https://pubmed.ncbi.nlm.nih.gov/28328129
Autor:
Clévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, Rudinei Luis Correia, Fernanda Veiga de Goes, Raquel Tavares Boy da Silva, Larissa Souza Mario Bueno, Mireille Caroline Silva de Miranda Gomes, Henrique de Campos Reis Galvão, João I C F Neri, Maria Isabel Achatz, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla
Publikováno v:
PLoS ONE, Vol 12, Iss 10, p e0185713 (2017)
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by the development of multiple hamartomas in many organs and tissues. It occurs due to inactivating mutations in either of the two genes, TSC1 and TSC2, foll
Externí odkaz:
https://doaj.org/article/1664d8144a7346c39bd9e139dfa76002