Zobrazeno 1 - 10
of 93
pro vyhledávání: '"Angela M Vianna-Morgante"'
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:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract 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, autis
Externí odkaz:
https://doaj.org/article/e717f34c0e7c4ec6bad7b53048b5a30f
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44428a53c5bae0310dc97a8fe25b72c8
https://doi.org/10.1007/s12035-023-03311-0
https://doi.org/10.1007/s12035-023-03311-0
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15fd5514ce85befcf36271a353fe1db8
https://doi.org/10.1002/humu.24420
https://doi.org/10.1002/humu.24420
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:
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:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5223d0b1b87900c1f45df9fa6003633e
https://pubmed.ncbi.nlm.nih.gov/34981645
https://pubmed.ncbi.nlm.nih.gov/34981645
Autor:
Juliana F. Mazzeu, Ana Cristina Krepischi-Santos, Carla Rosenberg, Charles M. Lourenço, Karina Lezirovitz, Karoly Szuhai, Lúcia R. Martelli, Angela M. Vianna-Morgante
Publikováno v:
Genetics and Molecular Biology, Vol 30, Iss 2, Pp 339-342 (2007)
Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS) and Wolf-Hirschhorn syndrome (WHS), the form
Externí odkaz:
https://doaj.org/article/3ea895b58729456c9d56df3febda9234
Publikováno v:
Genetics and Molecular Biology, Vol 29, Iss 3, Pp 423-428 (2006)
The loss-of-function mutation of the FMR1 gene due to expansion of the 5' UTR CGG repeat causes the fragile X syndrome, the most frequent form of inherited mental retardation. On the other hand, the FMR1 premutation, which is transcriptionally active
Externí odkaz:
https://doaj.org/article/77d515e50e214a3b905208574508559e
Publikováno v:
Genetics and Molecular Biology, Vol 28, Iss 1, Pp 10-15 (2005)
In order to investigate the stability of the FMR1 (Fragile X Mental Retardation 1) alleles from the normal population, when maternally inherited, we analyzed 75 mother-to-son transmissions. Sixty-eight alleles fell within the common range with 20-40
Externí odkaz:
https://doaj.org/article/5b9a6660c0b34bd892ba75f5015550a5