Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Marshall Italo Barros Fontes"'
Autor:
Ericka Barbosa Trarbach, Isabella Lopes Monlleo, Carlos Guilherme Gaelzer Porciuncula, Marshall Italo Barros Fontes, Maria Teresa Mathias Baptista, Christine Hackel
Publikováno v:
Genetics and Molecular Biology, Vol 27, Iss 3, Pp 337-341 (2004)
Mutations in the KAL-1 gene localized at Xp22.3 have been shown to be responsible for the X-linked Kallmann syndrome (KS), a disorder characterized by the association of hypogonadotropic hypogonadism and anosmia. In this paper, we describe the invest
Externí odkaz:
https://doaj.org/article/db9bd526fc1c4b0abaa329071d3aff1c
Autor:
Ana Paula Santos, Isabella Lopes Monlleó, Têmis Maria Félix, Marshall Italo Barros Fontes, Ana Carolina Xavier, Samira Spineli-Silva, Erlane Marques Ribeiro, Társis Paiva Vieira, Luna Lira Bergamini, Vera Lúcia Gil-da-Silva-Lopes, Elaine Lustosa-Mendes, Ilária Cristina Sgardioli
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:970-985
The aim of this study was to perform 22q11.2 deletion screening and chromosomal microarray analysis (CMA) in individuals clinically diagnosed with craniofacial microsomia (CFM) and review previously published cases of CFM with genomic imbalances. It
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0b8f6ac264b2f187e9ad758b6adabf5
https://doi.org/10.1002/ajmg.c.31857
https://doi.org/10.1002/ajmg.c.31857
Autor:
Vera Lúcia Gil-da-Silva-Lopes, Ana Paula Santos, Marshall Italo Barros Fontes, Isabella Lopes Monlleó, Agnes Cristina Fett-Conte, Marina Cristine Cano Francisquetti, Simone Appenzeller
Publikováno v:
Public Health Genomics. 22:69-76
Addressing the unmet health needs of persons living with congenital anomalies in low- and middle-income countries (LMIC) is a major challenge. Registries and databases are exemplary tools capable to link research data with health programs. Since 2009
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cdebde7b204f261700ab64a9f1df30eb
https://doi.org/10.1159/000501973
https://doi.org/10.1159/000501973
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases
Autor:
Vera Lúcia Gil-da-Silva-Lopes, Isabella Lopes Monlleó, Erlane Marques Ribeiro, Têmis Maria Félix, Marshall Italo Barros Fontes, Elaine Lustosa-Mendes, Társis Paiva Vieira, Luna Lira Bergamini, Ana Carolina Xavier, Samira Spineli-Silva
Publikováno v:
Congenital anomaliesREFERENCES. 61(5)
This study aims to discuss diagnostic criteria and severity assessment for craniofacial microsomia (CFM). A series of 61 patients with diverse CFM phenotypes had their clinical data collected by experienced dysmorphologists using a single protocol. G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594b8c764f515744f9c6dee2a217adfb
https://pubmed.ncbi.nlm.nih.gov/33900643
https://pubmed.ncbi.nlm.nih.gov/33900643
Autor:
Gabriella da Silva Monteiro, Janine Cabral Machado, Luna Lira Bergamini, Gisele de M. Brito, Diogo Lucas Lima de Nascimento, Amanda G.R. de Barros, Ana Andrade, Genival Viana de Oliveira Júnior, Vera Lúcia Gil da Silva Lopes, Isabella Lopes Monlleó, Marshall Italo Barros Fontes
Publikováno v:
Comunicação em Ciências da Saúde. 28:23-30
Fendas orais são malformações prevalentes, requerem cuidado multiprofissional do nascimento até a vida adulta, envolvendo promoção da saúde, prevenção de comorbidades e reabilitação clínico-cirúrgica. EmAlagoas, a atenção nesta área n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ff1e98c81e4ff543df876b576bc3272d
https://doi.org/10.51723/ccs.v28i01.110
https://doi.org/10.51723/ccs.v28i01.110
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eba7b46acb5405f9408bbfe2d58a939
https://doi.org/10.1016/j.jcms.2015.07.026
https://doi.org/10.1016/j.jcms.2015.07.026
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f471e5ecd5001905eb24cf1bacf2b5ef
https://doi.org/10.1002/ajmg.a.37494
https://doi.org/10.1002/ajmg.a.37494
Autor:
Vera Lúcia Gil-da-Silva-Lopes, Agnes Cristina Fett-Conte, Fabíola Paoli Monteiro, Isabella Lopes Monlleó, Marshall Italo Barros Fontes, Ilária Cristina Sgardioli, Gabriela F. Leal, Erlane Marques Ribeiro, Têmis Maria Félix, Josiane Souza, Társis Paiva Vieira
Publikováno v:
The Cleft Palate-Craniofacial Journal. 52:411-416
Objectives The aim of this study was to describe clinical features in subjects with palatal abnormalities and to assess the distribution of these features among those with and without 22q11.2 deletion. Design Descriptive cohort. Patients One hundred
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7f2fa2dff7512dbdf77a2ea20e0945d
https://doi.org/10.1597/13-233
https://doi.org/10.1597/13-233
Autor:
Isabella Lopes Monlleó, Vera Lúcia Gil-da-Silva-Lopes, Marshall Italo Barros Fontes, Fernando Cendes, Tânia Kawasaki de Araujo, Ana Paula Santos, Iscia Lopes-Cendes, Simone Appenzeller, Fábio R. Torres
Microdeletions in the chromosomal region 17p13.3 are associated with neuronal migration disorders, and PAFAB1H1 is the main gene involved. The largest genomic imbalances, including the YWHAE and CRK genes, cause more severe structural abnormalities o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a54f24c38ba8e09907d536d2fc43423
https://europepmc.org/articles/PMC5260540/
https://europepmc.org/articles/PMC5260540/
Autor:
M. I. De Michelena, Isabella Lopes Monlleó, G. T. N. Besley, R. Giugliani, M.C.V. Garreton, Andréa de Rezende Duarte, Karen Tylee, Ana Carolina Brusius-Facchin, M. Ascurra, Angelina Xavier Acosta, Agnes Cristina Fett-Conte, Sandra Leistner-Segal, Christoph T. Zimmer, Ida Vanessa Doederlein Schwartz, R. P. Oliveira Sobrinho, Márcia Gonçalves Ribeiro, Marshall Italo Barros Fontes, Raquel Boy, Dafne Dain Gandelman Horovitz, P. Mabe
In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d015a6878cee7ea7a269a20e09e7d25d
https://hdl.handle.net/20.500.12866/8060
https://hdl.handle.net/20.500.12866/8060