Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Leslie, Kulikowski"'
Autor:
Marcília Sierro Grassi, Marília Montenegro, Evelin Aline Zanardo, Antonio Carlos Pastorino, Mayra Barros Dorna, Chong Kim, Marcelo Jatene, Nana Miura, Leslie Kulikowski, Magda Carneiro-Sampaio
Publikováno v:
Arquivos Brasileiros de Cardiologia, Vol 118, Iss 1, Pp 61-67 (2022)
Resumo Fundamento Algumas síndromes têm características específicas e facilmente reconhecíveis, enquanto outras podem ser mais complexas de se identificar e podem apresentar diferentes manifestações fenotípicas, por exemplo. Um diagnóstico e
Externí odkaz:
https://doaj.org/article/08218b1bdaf54a3886500e21a7fffaf4
Autor:
Aritania Sousa Santos, Ludmila Rodrigues Pinto Ferreira, Amanda Cabral da Silva, Laís Isidoro Alves, Jullian Gabriel Damasceno, Leslie Kulikowski, Edecio Cunha-Neto, Maria Elizabeth Rossi da Silva
Publikováno v:
Journal of Immunology Research, Vol 2022 (2022)
Aims/Hypothesis. The role of microRNAs (miRNAs) in type 1 diabetes (T1D) pathogenesis and progression has been described but remains elusive. Objectives. To evaluate the potential biological involvement of miRNA expression in the immune response and
Externí odkaz:
https://doaj.org/article/30f57ec5794a4fb284264d442e9cfc40
Autor:
Monica Franca, Daniela Moraes, Ana Krepischi, Jose Faria-Jr, Elaine Costa, Sylvia Hayashida, Gustavo Maciel, Silvia Costa, Leslie Kulikowski, Alexsander Jorge, Berenice Mendonca, Sorahia Domenice
Publikováno v:
Journal of the Endocrine Society. 6:A715-A715
Primary ovarian insufficiency (POI) is characterized by a heterogeneous genetic background. Moreover, the etiology of most POI cases remains unclear. Herein, our goal was to investigate the presence of rare deletions or duplications in patients prese
Autor:
Marcília Sierro, Grassi, Marília, Montenegro, Evelin Aline, Zanardo, Antonio Carlos, Pastorino, Mayra Barros, Dorna, Chong, Kim, Marcelo, Jatene, Nana, Miura, Leslie, Kulikowski, Magda, Carneiro-Sampaio
Publikováno v:
Arquivos brasileiros de cardiologia. 118(1)
Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the diseas
Autor:
Rodrigo de Holanda, Mendonça, Ciro, Matsui, Graziela Jorge, Polido, André Macedo Serafim, Silva, Leslie, Kulikowski, Alexandre, Torchio Dias, Evelin Aline, Zanardo, Davi Jorge Fontoura, Solla, Juliana, Gurgel-Giannetti, Ana Carolina Monteiro Lessa, de Moura, Gabriela Palhares Campolina, Sampaio, Acary Souza Bulle, Oliveira, Paulo Victor Sgobbi, de Souza, Wladimir Bocca Vieira de Rezende, Pinto, Eduardo Augusto, Gonçalves, Igor Braga, Farias, Flávia, Nardes, Alexandra Prufer de Queiroz Campos, Araújo, Wilson, Marques, Pedro José, Tomaselli, Mara Dell Ospedale, Ribeiro, João Paulo, Kitajima, Fabíola, Paoli Monteiro, Jonas Alex Morales, Saute, Michele Michelin, Becker, Maria Luiza, Saraiva-Pereira, Ana Carolina, Brusius-Facchin, Vanessa, van der Linden, Rodrigo Neves, Florêncio, André Vinícius Soares, Barbosa, Marcela Camara, Machado-Costa, André Luiz Santos, Pessoa, Leticia Silva, Souza, Marcondes Cavalcante, Franca, Fernando, Kok, Umbertina Conti, Reed, Edmar, Zanoteli
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Objective The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 (SMN1) gene in a large population of patients with spinal muscular atrophy (SMA) and to correlate the severity