Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Társis Paiva Vieira"'
Autor:
Melissa Bittencourt de Wallau, Ana Carolina Xavier, Carolina Araújo Moreno, Chong Ae Kim, Elaine Lustosa Mendes, Erlane Marques Ribeiro, Amanda Oliveira, Têmis Maria Félix, Agnes Cristina Fett-Conte, Luciana Cardoso Bonadia, Gabriela Roldão Correia-Costa, Isabella Lopes Monlleó, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira
Publikováno v:
Genes, Vol 15, Iss 4, p 518 (2024)
22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity. This study aimed to explore the association between clinical heterogeneity in 22q11.2DS and the parental origin of the deletion. The parental origin of the deletion was d
Externí odkaz:
https://doaj.org/article/5eafca2b7b6e46029ea663a5139b3baf
Autor:
Ruy Pires de Oliveira-Sobrinho, Simone Appenzeller, Ianne Pessoa Holanda, Júlia Lôndero Heleno, Josep Jorente, on behalf of the Rare Genomes Project Consortium, Társis Paiva Vieira, Carlos Eduardo Steiner
Publikováno v:
Genes, Vol 15, Iss 4, p 513 (2024)
Juvenile idiopathic arthritis is a heterogeneous group of diseases characterized by arthritis with poorly known causes, including monogenic disorders and multifactorial etiology. 22q11.2 proximal deletion syndrome is a multisystemic disease with over
Externí odkaz:
https://doaj.org/article/f87e25cf217c4594abb6a32644df7611
Autor:
Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori dos Santos, Társis Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes
Publikováno v:
Genes, Vol 15, Iss 2, p 211 (2024)
The condition known as 22q11.2 deletion syndrome (MIM #188400) is a rare disease with a highly variable clinical presentation including more than 180 features; specific guidelines for screening individuals have been used to support clinical suspicion
Externí odkaz:
https://doaj.org/article/0ee74b8eb3014def979ac69f8701f63a
Autor:
Matheus de Mello Copelli, Eleonore Pairet, Milena Atique-Tacla, Társis Paiva Vieira, Simone Appenzeller, Raphaël Helaers, Miikka Vikkula, Vera Lúcia Gil-da-Silva-Lopes
Publikováno v:
Genes, Vol 14, Iss 4, p 882 (2023)
SATB2-associated syndrome (SAS) is a rare condition, and it is characterized by severe developmental delay/intellectual disability, especially severe speech delay/or absence, craniofacial abnormalities, and behavioral problems. Most of the published
Externí odkaz:
https://doaj.org/article/b1abe99f94534b0387c5acd89f159071
Autor:
Carolina Gama Nascimento, Joana Rosa Marques Prota, Ilária Cristina Sgardioli, Samira Spineli-Silva, Nilma Lúcia Viguetti Campos, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira
Publikováno v:
Genes, Vol 14, Iss 4, p 885 (2023)
Insertions are rare balanced chromosomal rearrangements with an increased risk of imbalances for the offspring. Moreover, balanced rearrangements in individuals with abnormal phenotypes may be associated to the phenotype by different mechanisms. This
Externí odkaz:
https://doaj.org/article/728e6a7a56364ec4b76d8f0d8cf6def9
Autor:
Gabriela Roldão Correia-Costa, Ilária Cristina Sgardioli, Ana Paula dos Santos, Tânia Kawasaki de Araujo, Rodrigo Secolin, Iscia Lopes-Cendes, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira
Publikováno v:
Genetics and Molecular Biology, Vol 45, Iss 1 (2022)
Abstract Runs of homozygosity (ROH) in the human genome may be clinically relevant. The aim of this study was to report the frequency of increased ROH of the autosomal genome in individuals with neurodevelopmental delay/intellectual disability and/or
Externí odkaz:
https://doaj.org/article/11f96c4871f545bfb0c2c8e28ae860d1
Autor:
Gabriela Roldão Correia-Costa, Ana Mondadori dos Santos, Nicole de Leeuw, Sumara Zuanazi Pinto Rigatto, Vera Maria Santoro Belangero, Carlos Eduardo Steiner, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira
Publikováno v:
Genes, Vol 13, Iss 12, p 2377 (2022)
The widespread use of whole exome sequencing (WES) resulted in the discovery of multilocus pathogenic variations (MPV), defined as two or more distinct or overlapping Mendelian disorders occurring in a patient, leading to a blended phenotype. In this
Externí odkaz:
https://doaj.org/article/fde4b922d4874906931b77f461ec9f66
Autor:
Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Paulo Fanti, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Background The clinical heterogeneity of the 22q11.2 Deletion Syndrome (22q11.2DS – OMIM, #188400 and #192430) is a universal challenge leading to diagnostic delay. The aim of this study was to evaluate a low cost strategy for the diagnosi
Externí odkaz:
https://doaj.org/article/1a1ebce888954e17b99ab6094d085c00
Autor:
Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Josiane Souza, Agnes Cristina Fett‐Conte, Têmis Maria Félix, Isabella Lopes Monlléo, Vera Lúcia Gil‐da‐Silva‐Lopes
Publikováno v:
Jornal de Pediatria (Versão em Português), Vol 93, Iss 5, Pp 497-507 (2017)
Objective: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 deletion, p
Externí odkaz:
https://doaj.org/article/3f3992170e8e45dd87eb85b3d4f77168
Autor:
Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Josiane Souza, Agnes Cristina Fett-Conte, Têmis Maria Félix, Isabella Lopes Monlléo, Vera Lúcia Gil-da-Silva-Lopes
Publikováno v:
Jornal de Pediatria, Vol 93, Iss 5, Pp 497-507
Abstract Objective: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 de
Externí odkaz:
https://doaj.org/article/650447046f964a45909e3e359e1794bf