Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Angela M Vianna-Morgante"'
Autor:
Leonardo Pires Capelli, Márcia Rúbia Rodrigues Gonçalves, Claudia C Leite, Egberto R Barbosa, Ricardo Nitrini, Angela M Vianna-Morgante
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 68, Iss 5, Pp 791-798 (2010)
FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrom
Externí odkaz:
https://doaj.org/article/0df5ef30064049bf9db6f8e61513e52e
Autor:
Martin Stofanko, Higgor Gonçalves-Dornelas, Pricila Silva Cunha, Heloísa B Pena, Angela M Vianna-Morgante, Sérgio Danilo Junho Pena
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e61328 (2013)
Because of economic limitations, the cost-effective diagnosis of patients affected with rare microdeletion or microduplication syndromes is a challenge in developing countries. Here we report a sensitive, rapid, and affordable detection method that w
Externí odkaz:
https://doaj.org/article/68f0dc05964b4d539bd250ea64712ae0
Autor:
Fernanda dos Santos Pereira, Ursula Matte, Clarissa Troller Habekost, Raphael Machado de Castilhos, Antonette Souto El Husny, Charles Marques Lourenço, Angela M Vianna-Morgante, Liane Giuliani, Marcial Francis Galera, Rachel Honjo, Chong Ae Kim, Juan Politei, Carmen Regla Vargas, Laura Bannach Jardim
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e34195 (2012)
UNLABELLED: In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as well as phenotypic proportions, survival estimates, and the potential effect of ge
Externí odkaz:
https://doaj.org/article/6131b6a8b642486cab34a84b4026aa0f
Autor:
Juliana Sobral Barros, Talita Ferreira Marques Aguiar, Silvia Souza Costa, Maria Prates Rivas, Monica Cypriano, Silvia Regina Caminada Toledo, Estela Maria Novak, Vicente Odone, Lilian Maria Cristofani, Dirce Maria Carraro, Isabela Werneck da Cunha, Cecília Maria Lima Costa, Angela M. Vianna-Morgante, Carla Rosenberg, Ana Cristina Victorino Krepischi
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
Hepatoblastoma (HB) is a rare embryonal tumor, although it is the most common pediatric liver cancer. The aim of this study was to provide an accurate cytogenomic profile of this type of cancer, for which information in cancer databases is lacking. W
Externí odkaz:
https://doaj.org/article/a2d9ed815c844ca19b826987c594975d
Autor:
Luiza D. Chaves, Laura M. L. Carvalho, Giovanna C. Tolezano, Sara F. Pires, Silvia S. Costa, Marília de O. Scliar, Liane de R. Giuliani, Debora R. Bertola, Cintia B. Santos-Rebouças, Go Hun Seo, Paulo A. Otto, Carla Rosenberg, Angela M. Vianna-Morgante, Ana Cristina Victorino Krepischi
Publikováno v:
Molecular Neurobiology. 60:3758-3769
Intellectual disability (ID) is an early onset impairment in cognitive functioning and adaptive behavior, affecting approximately 1% of the population worldwide. Extreme deviations of X-chromosome inactivation (XCI) can be related to ID phenotypes ca
Autor:
Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio C. Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Cordoba, Erica C.C. Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A. L. Jorge, Chong A. Kim, Rachel Honjo, Débora R. Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz‐Gulec, Evren Gumus, Gülay C. Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban–Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo W. Pereira, Paulo A. Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela M. Vianna‐Morgante, Claudia M. B. Carvalho, Juliana F. Mazzeu
Publikováno v:
Human Mutation. 43
Autor:
Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio C. Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Cordoba, Erica C.C. Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A. L. Jorge, Chong A. Kim, Rachel Honjo, Débora R. Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz‐Gulec, Evren Gumus, Gülay C. Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban–Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo W. Pereira, Paulo A. Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela M. Vianna‐Morgante, Claudia M. B. Carvalho, Juliana F. Mazzeu
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Human Mutation, 43, 7, pp. 900-918
Human Mutation, 43, 900-918
Hum Mutat
Universidade de São Paulo (USP)
instacron:USP
Human Mutation, 43, 7, pp. 900-918
Human Mutation, 43, 900-918
Hum Mutat
Contains fulltext : 252015.pdf (Publisher’s version ) (Open Access) Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89bd78d59d41fce955db143c3c377ec2
Autor:
Ana C. V. Krepischi, Darine Villela, Silvia Souza da Costa, Patricia C. Mazzonetto, Juliana Schauren, Michele P. Migliavacca, Fernanda Milanezi, Juliana G. Santos, Gustavo Guida, Rodrigo Guarischi-Sousa, Gustavo Campana, Fernando Kok, David Schlesinger, Joao Paulo Kitajima, Francine Campagnari, Debora R. Bertola, Angela M. Vianna-Morgante, Peter L. Pearson, Carla Rosenberg
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
Chromosomal microarray analysis (CMA) has been recommended and practiced routinely since 2010 both in the USA and Europe as the first-tier cytogenetic test for patients with unexplained neurodevelopmental delay/intellectual disability, autism spectru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b41f25124f3b41a62ed5d8b51036ff62
Autor:
Ana Cristina De Sanctis Girardi, Vanessa Naomi Opstal Takahashi, Estevão Vadasz, Claudia Ismania Samogi Costa, Elaine Cristina Zachi, Angela M. Vianna‐Morgante, Maria Rita Passos‐Bueno
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
Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review
Autor:
Adriano Bonaldi, André Kashiwabara, Érica S.de Araújo, Lygia V. Pereira, Alexandre R. Paschoal, Mayra B. Andozia, Darine Villela, Maria P. Rivas, Claudia K. Suemoto, Carlos A. Pasqualucci, Lea T. Grinberg, Helena Brentani, Silvya S. Maria-Engler, Dirce M. Carraro, Angela M. Vianna-Morgante, Carla Rosenberg, Luciana R. Vasques, Ana Krepischi
Publikováno v:
Epigenomes, Vol 1, Iss 2, p 13 (2017)
Large-scale transcriptome and methylome data analyses obtained by high-throughput technologies have been enabling the identification of novel imprinted genes. We investigated genome-wide DNA methylation patterns in multiple human tissues, using a hig
Externí odkaz:
https://doaj.org/article/2fd8d811c0174f65b0cbb87222a6a26e