Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Samira Spineli-Silva"'
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:
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. 14:885
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://explore.openaire.eu/search/publication?articleId=doi_________::f5a67b6300e0ac7fef8ab4fa001990d6
https://doi.org/10.3390/genes14040885
https://doi.org/10.3390/genes14040885
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
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
Publikováno v:
European Journal of Medical Genetics. 61:262-268
Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arche
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7057858cb03988dfc19b5015197e18b0
https://doi.org/10.1016/j.ejmg.2017.12.013
https://doi.org/10.1016/j.ejmg.2017.12.013
Autor:
Nilma Lúcia Viguetti-Campos, Ilária Cristina Sgardioli, Luciana Cardoso Bonadia, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira, Samira Spineli-Silva, Pedro Cristovão Carvalho
Publikováno v:
Meta Gene. 29:100927
The 22q11.2 Deletion Syndrome (22q11.2DS) represents the most common recurrent deletion syndrome in humans. It results from Non-Allelic Homologous Recombination (NAHR) between sister chromatids or homologous chromosomes, favored by the presence of se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49010c1e833f933ab0d05e2791e8a738
https://doi.org/10.1016/j.mgene.2021.100927
https://doi.org/10.1016/j.mgene.2021.100927
Autor:
Samira Spineli Silva
Publikováno v:
Biblioteca Digital de Teses e Dissertações da Universidade Estadual de Campinas (UNICAMP)
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP
Orientadores: Társis Antonio Paiva Vieira, Vera Lúcia Gil da Silva Lopes Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas Resumo: O Espectro óculo-aurículo-vertebral (EOAV), também conhecido como Micr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::194e07ad628a4236b10228ea4e4f19b0
Publikováno v:
Semina: Ciências Biológicas e da Saúde. 38:151
Oculo-auriculo-vertebral Spectrum (OAVS), also known as Craniofacial Microsomia or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68797e9f17c7e3473371d14cdf206f23
https://doi.org/10.5433/1679-0367.2017v38n1suplp151
https://doi.org/10.5433/1679-0367.2017v38n1suplp151