A síndrome de Prader-Willi (SPW) é uma doença multissistêmica, cujas manifestações principais incluem hipotonia, obesidade, leve atraso mental, hipogonadismo e insuficiência do hormônio de crescimento. A SPW foi a primeira desordem genética descrita envolvida com o imprinting genômico. O imprin...
BACKGROUNG: The eponymous Brugada Syndrome (BrS) in honor of its discovery as an independent entity by the Spanish/Catalan Brugada brothers, Pedro and Josep, has deserved numerous denominations derived mainly from the clinical genotype/phenotype correlation. The purpose of this manuscript is to present a...
Abstract Objective: To investigate the association between the FTO gene polymorphism with obesity in Brazilian adolescents from the Northeast region. Method: This was a case-control study with adolescents aged 18 to 19 years. The case group consisted of 378 obese individuals and the control group of 37...
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...
Cardiólogos,
Enfermedades Cardiovasculares,
Clopidogrel/farmacología,
Citocromo P-450 CYP2C19/genética,
Genotipo,
Factores de Riesgo de Enfermedad Cardiaca,
México,
Nucleótidos,
Inhibidores de Agregación Plaquetaria/farmacología,
Polimorfismo de Nucleótido Simple,
Factores de Riesgo
Bolat, Hilmi;
Ercan, Eyüp S;
Ünsel-Bolat, Gül;
Tahillioğlu, Akin;
Yazici, Kemal U;
Bacanli, Ali;
Pariltay, Erhan;
Aygüneş Jafari, Duygu;
Kosova, Buket;
Özgül, Semiha;
Rohde, Luis A;
Akin, Haluk.
Objective: Studies to reduce the heterogeneity of attention-deficit/hyperactivity disorder (ADHD) have increased interest in the concept of sluggish cognitive tempo (SCT). The aim of this study was to investigate if the prevalence of two variable-number tandem repeats (VNTRs) located within the 3′-...
Meat productivity and quality of beef are determined by a number of factors, including pedigree traits of animals. Meat productivity is closely related to the biological patterns of their growth and development. Considering the patterns that affect meat productivity enables effective growing and fattenin...
Resumen Introducción: La evidencia sobre las características genotípicas de la infección por Echinococcus granulosus en humanos es escasa. Objetivo: Desarrollar un resumen de la evidencia disponible respecto a genotipos de E. granulosus verificados en hidatidosis humana en el mundo. Material y Mé...
SUMMARY BACKGROUND: This study aimed to investigate the deletion polymorphisms of the genes of the glutathione S-transferase family GSTT1 and GSTM1 in patients with Polycystic Ovarian Syndrome (PCOS), comparing them with a control population. METHODS: Blood was collected from 219 women (110 with PCOS a...
Background: Transmitted drug resistance (TDR) occurs in patients with HIV infection who are not exposed to antiretroviral drugs but who are infected with a virus with mutations associated with resistance. Aim: To determine the prevalence of TDR and characterize HIV reverse transcriptase and protease muta...
Fármacos Anti-VIH,
Infecciones por VIH,
VIH-1,
Fármacos Anti-VIH/farmacología,
Fármacos Anti-VIH/uso terapéutico,
Chile/epidemiología,
Farmacorresistencia Viral/genética,
Genotipo,
Infecciones por VIH/tratamiento farmacológico,
Infecciones por VIH/epidemiología,
VIH-1/genética,
Mutación,
Prevalencia
