La formación del paladar ocurre entre la quinta y undécima semana de vida intrauterina producto de la unión del paladar primario y secundario. Por otra parte, la formación del labio superior ocurre entre la quinta y sexta semana del desarrollo, y se configura en su parte media por la fusión de los p...
Abstract Introduction: Non-syndromic cleft lip with or without cleft palate is a common worldwide birth defect due to a combination of environmental and genetic factors. Genome-wide association studies reported the rs7078160 of Vax1 is closely related to non-syndromic cleft lip with or without cleft pal...
Lustosa-Mendes, Elaine;
Santos, Ana P dos;
Vieira, Társis P;
Ribeiro, Erlane M;
Rezende, Adriana A;
Fett-Conte, Agnes C;
Cavalcanti, Denise P;
Félix, Têmis M;
Monlleó, Isabella L;
Gil-da-Silva-Lopes, Vera Lúcia.
Abstract 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-syndromic oral clefts [NSOCs]) as well as indi...
Bezerra, João Felipe;
Silva, Heglayne Pereira Vital da;
Bortolin, Raul Hernandes;
Luchessi, André Ducati;
Ururahy, Marcela Abbott Galvão;
Loureiro, Melina Bezerra;
Gil-da-Silva-Lopes, Vera Lúcia;
Almeida, Maria das Graças;
Amaral, Viviane Souza do;
Rezende, Adriana Augusto de.
Abstract Introduction: Non-syndromic orofacial clefts have a complex etiology due to the contribution from both genetic and environmental risk factors, as well as the interaction between them. Among the more than 15 susceptibility loci for non-syndromic orofacial clefts with considerable statistical and...
ABSTRACT: A standardized photographic documentation is reproducible, which facilitates the evaluation of new techniques, treatment planning, and comparison of results. Clinical photography is important to impart scientific education to health professionals, because techniques can be better understood by ...
Abstract Objective: Cleft palate (CP) is a congenital birth defect caused by the failure of palatal fusion. Little is known about the potential role of DNA methylation in the pathogenesis of CP. This study aimed to explore the potential role of DNA methylation in the mechanism of CP. Methodology: We es...
Fisura del Paladar/embriología,
Fisura del Paladar/genética,
Fisura del Paladar/patología,
Metilación de ADN,
Factores de Crecimiento de Fibroblastos/análisis,
Factores de Crecimiento de Fibroblastos/genética,
Expresión Génica,
Ratones Endogámicos C57BL,
Dominios y Motivos de Interacción de Proteínas,
Reacción en Cadena en Tiempo Real de la Polimerasa,
Valores de Referencia,
Análisis de Secuencia de ADN,
Proteínas de Dominio T Box/análisis,
Proteínas de Dominio T Box/genética
Abstract Introduction Transcription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development. Objective We aimed to in...
Estudios de Casos y Controles,
Labio Leporino/etnología,
Labio Leporino/genética,
Fisura del Paladar/etnología,
Fisura del Paladar/genética,
Frecuencia de los Genes,
Estudios de Asociación Genética,
Técnicas de Genotipaje,
India,
Factores Reguladores del Interferón/genética,
Polimorfismo de Nucleótido Simple/genética,
Factores de Riesgo
Abstract Non-syndromic cleft lip with or without palate (NSCL/P) is a common congenital malformation worldwide, with complex etiology. It has been proposed that interaction of genes and environmental factors play a role in the predisposition to this disease. Objectives: The aim of this study was to exam...
Proteína Axina/genética,
Proteína Morfogenética Ósea 4/genética,
Estudios de Casos y Controles,
Labio Leporino/genética,
Fisura del Paladar/genética,
Frecuencia de los Genes,
Predisposición Genética a la Enfermedad,
Genotipo,
Factores Reguladores del Interferón/genética,
Irán,
Polimorfismo de Longitud del Fragmento de Restricción,
Polimorfismo de Nucleótido Simple
RESUMO Objetivo: EEC é um acrônimo para uma síndrome autossômica dominante caracterizada clinicamente por ectrodactilia (E), displasia ectodérmica efissura labiopalatal (C). Nosso objetivo foi relatar um caso raro de irmãos afetados pela síndrome de ectrodactilia, displasia ectodérmica efissura...
