Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Rafaella X. Pietra"'
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
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:
Valdirene T de Oliveira, Monica C. Varela, Natália V Carobin, Beatriz S V Ribeiro, Hennie T. Brüggenwirth, James R. Lupski, Zeynep Coban Akdemir, Carla Rosenberg, Fernando Victor Martins Rubatino, Claudia M.B. Carvalho, Fernanda Sarquis Jehee, Karla Fernandes, Mariana L de Freitas, Célia Priszkulnik Koiffmann, Juliana Gurgel-Giannetti, Roza Ali-Amin, Rafaella X Pietra, Gabrielle S. Vianna, Richard A. Gibbs, Janson White, Shalini N. Jhangiani
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, 173(9), 2451-2455. Wiley-Liss Inc.
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics Part A, 173(9), 2451-2455. Wiley-Liss Inc.
We describe monozygotic twin girls with genetic variation at two separate loci resulting in a blended phenotype of Prader-Willi syndrome and Pitt-Hopkins syndrome. These girls were diagnosed in early infancy with Prader-Willi syndrome, but developed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70a0b62d41e50bdbc69c16a3e9fe5f9e
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