Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Milena Simioni"'
Autor:
Pedro Rodrigues Sousa da Cruz, Galina Ananina, Rodrigo Secolin, Vera Lúcia Gil-da-Silva-Lopes, Carmen Silvia Passos Lima, Paulo Henrique Condeixa de França, Amanda Donatti, Gustavo Jacob Lourenço, Tânia Kawasaki de Araujo, Milena Simioni, Iscia Lopes-Cendes, Fernando Ferreira Costa, Mônica Barbosa de Melo
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 12, Iss 7 (2022)
AbstractAdmixture is known to greatly impact the genetic landscape of a population and, while genetic variation underlying human phenotypes has been shown to differ among populations, studies on admixed subjects are still scarce. Latin American popul
Externí odkaz:
https://doaj.org/article/bbf3f57aef1e4b1fb6b478df16f9fa26
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:
Karina S. Cunha, Milena Simioni, Tarsis P. Vieira, Vera L. Gil-da-Silva-Lopes, Maria B. Puzzi, Carlos E. Steiner
Publikováno v:
Genetics and Molecular Biology, Vol 39, Iss 1, Pp 35-39 (2016)
Abstract Pigmentary mosaicism of Ito (PMI) is a skin abnormality often characterized by hypopigmentation of skin, following, in most cases, the Blaschko lines, usually associated with extracutaneous abnormalities, especially abnormalities of the cent
Externí odkaz:
https://doaj.org/article/c095945bb57c4679b262d16c5dd5419b
Autor:
Fernanda Bueno Barbosa, Milena Simioni, Cláudia Emília Vieira Wiezel, Fábio Rossi Torres, Miriam Coelho Molck, Melvin M Bonilla, Tânia Kawasaki de Araujo, Eduardo Antônio Donadi, Vera Lúcia Gil-da-Silva-Lopes, Bernardo Lemos, Aguinaldo Luiz Simões
Publikováno v:
PLoS ONE, Vol 13, Iss 11, p e0206683 (2018)
Systemic lupus erythematosus (SLE) is an autoimmune disease with a strong genetic component and etiology characterized by chronic inflammation and autoantibody production. The purpose of this study was to ascertain copy number variation (CNV) in SLE
Externí odkaz:
https://doaj.org/article/03becdc2e13043aba5cf02ae137b9926
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
Autor:
Miriam Coelho Molck, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira, Milena Simioni, Fabíola Paoli Monteiro
Publikováno v:
Molecular Syndromology. 9:197-204
Partial duplication of chromosome 3q - dup(3q) - is a recognizable syndrome with dysmorphic facial features, microcephaly, digital anomalies, and genitourinary and cardiac defects, as well as growth retardation and developmental delay. Most cases of
Autor:
Vera Lúcia Gil-da-Silva-Lopes, Marcos André Cavalcanti Bezerra, Aderson S Araujo, Mônica Barbosa de Melo, Fernando Ferreira Costa, Hakon Hakonarson, Igor de Farias Domingos, Renata Pellegrino, Pedro Rodrigues Souza Cruz, Farid Menaa, Milena Simioni, Galina Ananina
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Genetic analysis of admixed populations raises special concerns with regard to study design and data processing, particularly to avoid population stratification biases. The point mutation responsible for sickle cell anaemia codes for a variant hemogl
Autor:
Vera Lúcia Gil-da-Silva-Lopes, Karina Soares Cunha, Maria Beatriz Puzzi, Carlos Eduardo Steiner, Milena Simioni, Társis Paiva Vieira
Publikováno v:
Genetics and Molecular Biology, Vol 39, Iss 1, Pp 35-39 (2016)
Genetics and Molecular Biology, Volume: 39, Issue: 1, Pages: 35-39, Published: MAR 2016
Genetics and Molecular Biology
Genetics and Molecular Biology, Volume: 39, Issue: 1, Pages: 35-39, Published: MAR 2016
Genetics and Molecular Biology
Pigmentary mosaicism of Ito (PMI) is a skin abnormality often characterized by hypopigmentation of skin, following, in most cases, the Blaschko lines, usually associated with extracutaneous abnormalities, especially abnormalities of the central nervo
Autor:
Sidney Santos, Marshall Italo Barros Fontes, Tânia Kawasaki de Araujo, Vera Lúcia Gil-da-Silva-Lopes, Ândrea Ribeiro-dos-Santos, Isabella Lopes Monlleó, Adriana Augusto de Rezende, Liliane Todeschini de Souza, Erlane Marques Ribeiro, Josiane Souza, Têmis Maria Félix, Agnes Cristina Fett-Conte, Milena Simioni, Ana Carolina Xavier, Rodrigo Secolin
Publikováno v:
Journal of Cranio-Maxillofacial Surgery. 44:16-20
Purpose The aim of this study was to use the TaqMan OpenArray system to evaluate associations between 39 genes and the etiology of nonsyndromic cleft lip and palate (NSCLP) in a Brazilian population. Material and methods This case-control association
Autor:
Vera Lúcia Gil-da-Silva-Lopes, Carla Rosenberg, Ana Andrade, Isabella Lopes Monlleó, Marshall Italo Barros Fontes, Miriam Coelho Molck, Ana Cristina Victorino Krepischi, Diogo Lucas Lima do Nascimento, Simone Appenzeller, Ana Paula Santos, Milena Simioni
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
This article reports a patient with a de novo ∼ 9.32 Mb duplication at 16p13.3 and a ∼ 71 Kb deletion at 22q13.33. The patient was followed from 1 month old to 3 years and 8 months of age and presented typical features of the 16p13.3 duplication