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View article: Spinocerebellar ataxia type 10 and Huntington disease‐like 2 in Venezuela: Further evidence of two different ancestral founder effects
Spinocerebellar ataxia type 10 and Huntington disease‐like 2 in Venezuela: Further evidence of two different ancestral founder effects Open
Introduction The American continent populations have a wide genetic diversity, as a product of the admixture of three ethnic groups: Amerindian, European, and African Sub‐Saharan. Spinocerebellar ataxia type 10 (SCA10) and Huntington disea…
View article: Bull’s age effect on the ratio of x and y chromosome-bearing spermatozoa
Bull’s age effect on the ratio of x and y chromosome-bearing spermatozoa Open
The reproductive efficiency improvements that can be achieved in bovine herds highly depend on the male, as the bulls account for approximately 80% of the gene pool. Likewise, age can impact the sires’ reproductive efficiency through its s…
View article: Estimación de mestizaje en dos poblaciones venezolanas usando marcadores informativos de ancestralidad y haplogrupos de ADN mitocondrial
Estimación de mestizaje en dos poblaciones venezolanas usando marcadores informativos de ancestralidad y haplogrupos de ADN mitocondrial Open
Los marcadores informativos de ancestralidad (AIM) autosómicos y los del ADN mitocondrial (ADNmt) son muy útiles para identificar el origen y los patrones de migración de las poblaciones. En este trabajo se estimó el mestizaje a partir de …
View article: Undescribed GJB2 c.35dupG homozygous prelingual distinguished from c.35delG homozygous/compound heterozygous deafs, dwelling a German ancestry Venezuelan isolate
Undescribed GJB2 c.35dupG homozygous prelingual distinguished from c.35delG homozygous/compound heterozygous deafs, dwelling a German ancestry Venezuelan isolate Open
Background Among ten hearing-impaired (HI) families mostly of German descent dwelling the Venezuelan isolate Colonia Tovar, which were initially studied several decades ago to assess the etiology of their profound/prelingual nonsyndromic d…
View article: Spinal muscular atrophy in Venezuela: quantitative analysis of SMN1 and SMN2 genes
Spinal muscular atrophy in Venezuela: quantitative analysis of SMN1 and SMN2 genes Open
View article: Study of the ethnic origin of the prothrombin gene (F2) in the admixed Venezuelan population
Study of the ethnic origin of the prothrombin gene (F2) in the admixed Venezuelan population Open
The prothrombin (coagulation factor II), codified by the F2 gene, is the precursor of thrombin that cleaves fibrinogen, leading to a blood clot formation. The F2 mutation 20210 G>A (c.*97G>A) is associated with prothrombin thrombophilia, a…
View article: 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review Open
View article: Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent
Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent Open
View article: Polimorfismos de los genes LEP, LDLR, APOA4, sus relaciones con sobrepeso, obesidad y riesgo de enfermedades crónicas en adultos del estado Sucre, Venezuela
Polimorfismos de los genes LEP, LDLR, APOA4, sus relaciones con sobrepeso, obesidad y riesgo de enfermedades crónicas en adultos del estado Sucre, Venezuela Open
For most of the genetic variants studied, there was an association with the presence of overweight and obesity among ancestral genotype carriers, although this was not statistically significant. The rs5742911 polymorphism may be useful as …