Genetic Aspects of Premature Ovarian Failure

In myelodysplastic syndrome, mutations of TP53 gene are usually associated with complex karyotype and confer a worse prognosis.. In the present study, two mutations in this gene

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. Karet

Para Habermas, l’espace public est donc constitué comme une structure “communicative enracinée dans le monde de la vie” en vertu du réseau institutionnel qui s’élargit

However, temperature alone did not induce the gonadal alterations observed since WIP-11A flies had similar levels of dysgenesis at all developmental tempera- tures and F1

In addition to the mutations that underlie most cases of the multiple endocrine neoplasia type 1 (MEN1) syndrome, somatic mutations of the MEN1 gene have also been described

In conclusion, although mutations in the two major genes required for male gonadal development account for a minority of cases of XY partial gonadal dysgenesis, genetic analysis of the

Após se testar a veracidade das proposições levantadas, constatou-se que na cadeia de abastecimento alimentar em análise, relativamente à actividade de transporte,

Several studies sho­ wed an haploinsuficiency effect caused by inactivating mutations in the NR5A1 gene in 46,XY heterozygous individuals with gonadal dysgenesis and without