Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Têmis M. Félix"'
Autor:
Elaine Lustosa-Mendes, Ana P. dos Santos, Társis P. Vieira, Erlane M. Ribeiro, Adriana A. Rezende, Agnes C. Fett-Conte, Denise P. Cavalcanti, Têmis M. Félix, Isabella L. Monlleó, Vera Lúcia Gil-da-Silva-Lopes
Publikováno v:
Jornal de Pediatria, Vol 97, Iss 3, Pp 321-328 (2021)
Objective: This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods: The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-
Externí odkaz:
https://doaj.org/article/d7933406576f4f5abfff7f3417dc9625
Autor:
Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz
Publikováno v:
PLoS ONE, Vol 12, Iss 5, p e0177503 (2017)
INTRODUCTION:The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype a
Externí odkaz:
https://doaj.org/article/971485840da94fc49f57616cfc9988c5
Autor:
Samira Spineli-Silva, Isabella L. Monlleó, Têmis M. Félix, Vera L. Gil-da-Silva-Lopes, Társis P. Vieira
Publikováno v:
The Cleft Palate Craniofacial Journal. :105566562311744
This study reports three patients with Cat-eye Syndrome (CES), two of which present a previous clinical diagnosis of Craniofacial microsomia (CFM). Chromosomal microarray analysis (CMA) revealed a tetrasomy of 1,7 Mb at the 22q11.2q11.21 region, whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca15d760e3f534d22f90f3705849c1ef
https://doi.org/10.1177/10556656231174435
https://doi.org/10.1177/10556656231174435
Autor:
Têmis M. Félix, Angelina Xavier Acosta, Isalis Sanchez-Pena, Gabrielle N. Manzoli, Xue Zhong Liu, Mustafa Tekin, Ibis Menéndez, Susan H. Blanton, F. Basak Cengiz, Guney Bademci, Joseph Foster, Kiyoko Abe-Sandes, Danniel da Silva, Demet Tekin
Publikováno v:
Annals of Human Genetics. 80:327-331
Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deaf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::687e77819f85978b846cff82a85b556d
https://doi.org/10.1111/ahg.12177
https://doi.org/10.1111/ahg.12177
Autor:
Roberta M, Volpe-Aquino, Isabella L, Monlleó, Elaine, Lustosa-Mendes, Amanda F, Mora, Agnes C, Fett-Conte, Têmis M, Félix, Ana C, Xavier, Rita, Tonocchi, Erlane M, Ribeiro, Rui, Pereira, Raquel T, Boy da Silva, Adriana A, de Rezende, Denise P, Cavalcanti, Vera L, Gil-da-Silva-Lopes
Publikováno v:
Birth defects research. 110(1)
The World Health Organization has recognized the relevance of databases on craniofacial anomalies since . To date, there is no universal standard instrument/database focused on risk factors, clinical and genetic data collection, and follow-up that en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::37b5ffce80fd2bbdef7348174d2e98e2
https://pubmed.ncbi.nlm.nih.gov/28949457
https://pubmed.ncbi.nlm.nih.gov/28949457
Autor:
Gabrielle N, Manzoli, Guney, Bademci, Angelina X, Acosta, Têmis M, Félix, F Basak, Cengiz, Joseph, Foster, Danniel S Dias, Da Silva, Ibis, Menendez, Isalis, Sanchez-Pena, Demet, Tekin, Susan H, Blanton, Kiyoko, Abe-Sandes, Xue Zhong, Liu, Mustafa, Tekin
Publikováno v:
Annals of human genetics. 80(6)
Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deaf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66a46925bf866f13d2d3f8adc9f01a90
https://pubmed.ncbi.nlm.nih.gov/27870113
https://pubmed.ncbi.nlm.nih.gov/27870113
Publikováno v:
Clinical dysmorphology. 13(4)
Infantile Systemic Hyalinosis (ISH) is an autosomal recessive disorder characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscles and glands. Recently, mutations in the capillary morphogenesis gene-2 (CMG-2), a transmembra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a321ddfbcf47cc12640125fd605fd5d
https://pubmed.ncbi.nlm.nih.gov/15365459
https://pubmed.ncbi.nlm.nih.gov/15365459
Autor:
Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz
Publikováno v:
PLoS ONE, Vol 12, Iss 6, p e0180463 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0177503.].
Externí odkaz:
https://doaj.org/article/a4bb795841914138bf0f3b3998175bbf
Autor:
Alexandre R Vieira, Joseph R Avila, Sandra Daack-Hirsch, Ecaterina Dragan, Têmis M Félix, Fedik Rahimov, Jill Harrington, Rebecca R Schultz, Yoriko Watanabe, Marla Johnson, Jennifer Fang, Sarah E O'Brien, Iêda M Orioli, Eduardo E Castilla, David R Fitzpatrick, Rulang Jiang, Mary L Marazita, Jeffrey C Murray
Publikováno v:
PLoS Genetics, Vol 1, Iss 6, p e64 (2005)
Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P) occurs in wide geographic distribution with an average birth prevalence of 1/700. We used direct sequencing as an approach to study candidate genes for CL/P. We report here the re
Externí odkaz:
https://doaj.org/article/58a2334e6b2f4ca5a3ac6d4a04816e34