Zobrazeno 1 - 10
of 23
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:
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
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
Autor:
Angela M. Vianna-Morgante, Silvia S. Costa, Rita de C.M. Pavanello, P.A. Otto, Regina C. Mingroni-Netto
Publikováno v:
Genetics and Molecular Biology, Vol 22, Iss 4, Pp 471-474 (1999)
The gynecological and reproductive histories of 193 women from fragile X families were surveyed. Among the 101 carriers of the premutation, 14 experienced premature menopause, contrarily to their 37 fully mutated and 55 noncarrier female relatives. A
Externí odkaz:
https://doaj.org/article/1a01192ca0194a96ade9ed62e78a03bb
Publikováno v:
Genetics and Molecular Biology, Vol 33, Iss 3, Pp I-II (2010)
Externí odkaz:
https://doaj.org/article/10ea95ff764f478c8ffadca3b92f43bc
Publikováno v:
Genetics and Molecular Biology, Vol 23, Iss 3, Pp 545-547 (2000)
Partial duplication of chromosome 20 (20pter->20q12) resulting from a maternally inherited translocation t(14;20)(q11;q13) is described in a female child with neuropsychomotor retardation and multiple congenital anomalies. To our knowledge this is th
Externí odkaz:
https://doaj.org/article/78228ae502b34a2d9d1b3bccf69f2f02
Autor:
Ricardo Nitrini, Márcia Rúbia R. Gonçalves, Leonardo P. Capelli, Egberto Reis Barbosa, Cláudia Sellitto Porto, Edson Amaro, Paulo Alberto Otto, Angela M. Vianna-Morgante
Publikováno v:
Dementia & Neuropsychologia, Vol 4, Iss 1, Pp 79-83
Abstract Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear palsy and amy
Externí odkaz:
https://doaj.org/article/03775c979811417eb22e114371306b52