Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Mariana Lacerda de Freitas"'
Autor:
Fernando Victor Martins Rubatino, Adriana Aparecida Bosco, Karla Silva Fernandes, Fernanda Sarquis Jehee, Célio José de Castro Junior, Mariana Lacerda de Freitas, Leonardo Rossi de Oliveira, Luana Assis Ferreira
The Rab3A and Rab3gaps are essential to the Ca+2-dependent neuronal exocytosis in the hypothalamus. The arcuate nucleus of the hypothalamus (ARC) controls food intake and energy expenditure. We have earlier described that the high-fat diet (HFD) feed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6ee7afee5576c8fadb45e13e4ce806a
https://doi.org/10.1101/2021.09.10.459820
https://doi.org/10.1101/2021.09.10.459820
Autor:
Fernanda Sarquis Jehee, Madelief Overes, Siulan Vendramini-Pittoli, Cristiano Tonello, Rejane A.C. Monteiro, Roseli Maria Zechi-Ceide, Juliana F. Mazzeu, Roza Ali-Amin, Nancy Mizue Kokitsu-Nakata, Antonio Richieri-Costa, Rosana Maria Candido-Souza, Lies H. Hoefsloot, Marjon van Slegtenhorst, Mariana Lacerda de Freitas
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics Part A. Wiley-Liss Inc.
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics Part A. Wiley-Liss Inc.
Here we report on a Brazilian child who presented semilobar holoprosencephaly, frontonasal encephaloceles and bilateral cleft lip and palate. Malformations also included agenesis of the corpus callosum, abnormal cortical gyres, dilation of the aquedu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fec59247c927a459a4bd59a31050433
https://doi.org/10.1002/ajmg.a.61305
https://doi.org/10.1002/ajmg.a.61305
Autor:
Aryane Mayra Fernandes, Mariana Lacerda de Freitas, Célio José de Castro Junior, Karla Fernandes, Luana Assis Ferreira, Nathalia Augusta de Oliveira Gomes, Leonardo Rossi de Oliveira, Adriana Aparecida Bosco, Fernanda Sarquis Jehee
Publikováno v:
Archives of Diabetes and Endocrine System. 2:1-8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::92548947245e17763af7c14baaabf133
https://doi.org/10.22259/2638-4981.0202001
https://doi.org/10.22259/2638-4981.0202001
Autor:
Patrícia P.O. Rocha, Juliana G. Giannetti, Marzia Pollazzon, Alessandro Iodice, Maria Marinelli, Satz Mengensatzproduktion, Ilaria Kolobova, Elvis C. Mateo, Patrícia R. de M. Lima, Manuela Napoli, Ivan Ivanovski, Tiong Yang Tan, Martin Poot, Elga Fabia Belligni, Joziele de S. Lima, Siulan Vendramini-Pittoli, Livia Garavelli, Rafaella X. Pietra, Bruno F. Gamba, Carlo Fusco, Charles Coutton, Veronica Barbieri, Giovana da C. César, Roseli Maria Zechi-Ceide, Mariana Lacerda de Freitas, Luana Assis Ferreira, Paula Frassinetti Vasconcelos de Medeiros, Gabrielle S. Vianna, Michele da S. Gonçalves, Nicky Kilpatrick, Francesca Madia, Anthony J. Penington, Chiara Sartori, Jessie X. Xu, Nancy Mizue Kokitsu-Nakata, Manuela Mussini, Fernanda S. Jehee, Fabrizia Franchi, Maria E. Street, Carla Rosenberg, Patrick Yap, Liam Crapper, Antonio Richieri-Costa, Rejane A.C. Monteiro, Rosana R. Xavier, Ilenia Maini, Naomi L. Baker, Scott C. Bell, Maria Augusta N.P. Monteiro, Valdirene T. de Oliveira, Simonetta Rosato, Ana C.V. Krepischi Santos, Druckerei Stückle, Carl Ernst, Rosario Pascarella, Andréia M. Carvalho, Lucilene Arilho Ribeiro-Bicudo, Peter G. Farlie
Publikováno v:
Molecular Syndromology. 7:I-VI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db58d86090fdaf131c3502e161f58fd5
https://doi.org/10.1159/000452981
https://doi.org/10.1159/000452981
Alterations in transcript levels of hypothalamic endosomal recycling genes in high-fat diet-fed mice
Autor:
Karla Simone Fern, Cristina Moraes Junta, Fern, Célio José de Castro Junior, Mariana Lacerda de Freitas, a Sarquis Jehee, o Victor Martins Rubatino, Luana Assis Ferreira, Adriana Aparecida Bosco
Publikováno v:
Endocrinology&Metabolism International Journal. 6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::81abaa4021fa7d00c297f195a13deab4
https://doi.org/10.15406/emij.2018.06.00229
https://doi.org/10.15406/emij.2018.06.00229
Autor:
Fernanda Sarquis Jehee, N. V. Carobin, Rafaella X. Pietra, Fernando Victor Martins Rubatino, A. A. Bosco, Mariana Lacerda de Freitas, V. T. de Oliveira
Publikováno v:
Genetics and Molecular Research. 14:13791-13798
Genomic imprinting is an important epigenetic phenomenon, wherein genes or gene clusters are marked by DNA methylation during gametogenesis. This plays a major role in several functions of normal cells, including cell differentiation, X chromosome in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35919f182f2656fed2234dea140c6e86
https://doi.org/10.4238/2015.october.28.41
https://doi.org/10.4238/2015.october.28.41
Autor:
Joziele de S. Lima, Mariana Lacerda de Freitas, Michele da S. Gonçalves, Patrícia P.O. Rocha, Giovana da C. César, Paula Frassinetti Vasconcelos de Medeiros, Valdirene T. de Oliveira, Rafaella X. Pietra, Luana Assis Ferreira, Fernanda Sarquis Jehee, Rejane A.C. Monteiro, Juliana F. Mazzeu, Gabrielle S. Vianna
Publikováno v:
Molecular syndromology. 8(5)
Congenital heart disease (CHD) is the most common congenital disorder among live births. When associated with extracardiac abnormalities, it is characterized as a syndromic heart disease (syndromic CHD) and corresponds to 25% of all liveborn infants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af2d8381b1d8111ec985b0064e191159
https://pubmed.ncbi.nlm.nih.gov/28878606
https://pubmed.ncbi.nlm.nih.gov/28878606
Autor:
Rejane A.C. Monteiro, Mariana Lacerda de Freitas, Rosana R. Xavier, Patrícia P.O. Rocha, Fernanda Sarquis Jehee, Juliana G. Giannetti, Paula Frassinetti Vasconcelos de Medeiros, Maria Augusta N.P. Monteiro, Michele da S. Gonçalves, Luana Assis Ferreira, Gabrielle S. Vianna, Giovana da C. César, Rafaella X. Pietra, Valdirene T. de Oliveira, Elvis C. Mateo, Joziele de S. Lima, Patrícia R. de M. Lima, Andreia Carvalho
Publikováno v:
Molecular syndromology. 7(6)
Chromosomal changes are frequently observed in patients with syndromic seizures. Understanding the genetic etiology of this pathology is crucial for the guidance and genetic counseling of families as well as for the establishment of appropriate treat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14fdd8a9dc7433c7c07088c98b711c14
https://pubmed.ncbi.nlm.nih.gov/27920636
https://pubmed.ncbi.nlm.nih.gov/27920636