Zobrazeno 1 - 10
of 16
pro vyhledávání: '"A. C. V. Krepischi"'
Autor:
Nathalia Liberatoscioli Menezes Andrade, Mariana Ferreira de Assis Funari, Alexsandra Christianne Malaquias, Paulo Ferrez Collett-Solberg, Nathalia L R A Gomes, Renata Scalco, Naiara Castelo Branco Dantas, Raissa C Rezende, Angelica M F P Tiburcio, Micheline A R Souza, Bruna L Freire, Ana C V Krepischi, Carlos Alberto Longui, Antonio Marcondes Lerario, Ivo J P Arnhold, Alexander A L Jorge, Gabriela Andrade Vasques
Publikováno v:
Endocrine Connections, Vol 11, Iss 12, Pp 1-10 (2022)
Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multige
Externí odkaz:
https://doaj.org/article/46443fe98cf943f5b3ad2294e1be10d0
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:
Christopher M. Grochowski, Ana C. V. Krepischi, Jesper Eisfeldt, Haowei Du, Debora R. Bertola, Danyllo Oliveira, Silvia S. Costa, James R. Lupski, Anna Lindstrand, Claudia M. B. Carvalho
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Chromoanagenesis is a descriptive term that encompasses classes of catastrophic mutagenic processes that generate localized and complex chromosome rearrangements in both somatic and germline genomes. Herein, we describe a 5-year-old female presenting
Externí odkaz:
https://doaj.org/article/8a873fbdda0b4b51851f5d6ff4ae32c4
Autor:
Melissa Quintero Escobar, Tássia Brena Barroso Carneiro Costa, Lucas G. Martins, Silvia S. Costa, André vanHelvoort Lengert, Érica Boldrini, Sandra Regina Morini da Silva, Luiz Fernando Lopes, Daniel Onofre Vidal, Ana C. V. Krepischi, Mariana Maschietto, Ljubica Tasic
Publikováno v:
Frontiers in Oncology, Vol 10 (2020)
Pediatric osteosarcoma outcomes have improved over the last decades; however, patients who do not achieve a full resection of the tumor, even after aggressive chemotherapy, have the worst prognosis. At a genetic level, osteosarcoma presents many alte
Externí odkaz:
https://doaj.org/article/f3c1903c1a80404fa47339ef056ca2ce
Autor:
Danielle S. Bessa, Mariana Maschietto, Carlos Francisco Aylwin, Ana P. M. Canton, Vinicius N. Brito, Delanie B. Macedo, Marina Cunha-Silva, Heloísa M. C. Palhares, Elisabete A. M. R. de Resende, Maria de Fátima Borges, Berenice B. Mendonca, Irene Netchine, Ana C. V. Krepischi, Alejandro Lomniczi, Sergio R. Ojeda, Ana Claudia Latronico
Publikováno v:
Clinical Epigenetics, Vol 10, Iss 1, Pp 1-18 (2018)
Abstract Background Recent studies demonstrated that changes in DNA methylation (DNAm) and inactivation of two imprinted genes (MKRN3 and DLK1) alter the onset of female puberty. We aimed to investigate the association of DNAm profiling with the timi
Externí odkaz:
https://doaj.org/article/2d4379157d88496ab9b3f169b0364cc2
Autor:
Silva, Pamela V. Andrade, Joilson M. Santos, Anne C. B. Teixeira, Vanessa F. Sogari, Michelle S. Almeida, Fabiano M. Callegari, Ana C. V. Krepischi, Acary S. B. Oliveira, Mariz Vainzof, Helga C. A.
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1360
Rhabdomyosarcomas have been described in association with thyroid disease, dermatomyositis, Duchenne muscular dystrophy, and in muscular dystrophy models but not in patients with ryanodine receptor-1 gene (RYR1) pathogenic variants. We described here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::ce3a24de3439f702d4d0278987d183bb
Autor:
Viviane Neri de Souza Reis, João Paulo Kitajima, Ana Carolina Tahira, Ana Cecília Feio-Dos-Santos, Rodrigo Ambrósio Fock, Bianca Cristina Garcia Lisboa, Sérgio Nery Simões, Ana C V Krepischi, Carla Rosenberg, Naila Cristina Lourenço, Maria Rita Passos-Bueno, Helena Brentani
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0170386 (2017)
It has been proposed that copy number variations (CNVs) are associated with increased risk of autism spectrum disorder (ASD) and, in conjunction with other genetic changes, contribute to the heterogeneity of ASD phenotypes. Array comparative genomic
Externí odkaz:
https://doaj.org/article/fe575cd62e3243579fd919467b478db7
Autor:
Darine Villela, Rodrigo F. Ramalho, Aderbal R. T. Silva, Helena Brentani, Claudia K. Suemoto, Carlos Augusto Pasqualucci, Lea T. Grinberg, Ana C. V. Krepischi, Carla Rosenberg
Publikováno v:
Neural Plasticity, Vol 2016 (2016)
This study investigated for the first time the genomewide DNA methylation changes of noncoding RNA genes in the temporal cortex samples from individuals with Alzheimer’s disease (AD). The methylome of 10 AD individuals and 10 age-matched controls w
Externí odkaz:
https://doaj.org/article/0635c9bc44b945cda3593b867d3a1dfa
Autor:
Marília Moreira, Montenegro, Débora, Camilotti, Caio Robledo D'Anglioli Costa, Quaio, Yanca, Gasparini, Évelin Aline, Zanardo, Andreia, Rangel-Santos, Gil Monteiro, Novo-Filho, Gleyson, Francisco, Lucas, Liro, Amom, Nascimento, Samar Nasser, Chehimi, Diogo Cordeiro Queiroz, Soares, Ana C V, Krepischi, Marcília Sierro, Grassi, Rachel Sayuri, Honjo, Patricia, Palmeira, Chong Ae, Kim, Magda Maria Sales, Carneiro-Sampaio, Carla, Rosenberg, Leslie Domenici, Kulikowski
Publikováno v:
The Journal of Pediatrics. 252:56-60.e2
To report the effectiveness of early molecular diagnosis in the clinical management of rare diseases, presenting 8 patients with 8p23.1DS who have clinical features that overlap the phenotypic spectrum of 22q11.2DS.This report is part of a previous s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd70af18e06876bb863e1edec8851758
https://doi.org/10.1016/j.jpeds.2022.08.051
https://doi.org/10.1016/j.jpeds.2022.08.051
Autor:
A. C. V. Krepischi, M. Maschietto, E. N. Ferreira, A. G. Silva, S. S. Costa, I. W. Cunha, B. D. F. Barros, P. E. Grundy, C. Rosenberg, D. M. Carraro
List of genes selected for copy number validation of 9 focal rearrangements using real-time quantitative PCR (qPCR) with TaqMan Gene Copy Number assays. (DOC 34Â kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9b215c168705daec0028a80de2b7cba
