Hiperplasia congénita da supra-renal não clássica (hcsr-nc) por deficiência de 21-hidroxilase: avaliação clínica e aconselhamento genético de duas famílias portuguesas [PDF]
, 2016 Introdução: A hiperplasia congénita da supra renal surge por deficiência de 21-hidroxilase em 90-95% dos casos. É uma das doenças hereditárias de transmissão autossómica recessiva mais frequente.
Antunes, Diana +7 more
core
Comprehensive Mutation Analysis of the CYP21A2 Gene
The Journal of Molecular Diagnostics, 2013 Xu, Zhi +3 more
openaire +1 more source
Pathway landscape and regulatory networks of epigenetically modified Breast Cancer genes [PDF]
Epigenetic changes are a key regulator of gene expression in different cancer histotypes. After investigating the differentially expressed genes upon treatment with a demethylating agent, e.g.
Capobianco, Enrico +3 more
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Врожденная дисфункция коры надпочечников: поиск мутаций в гене CYP21A2
Вестник Башкирского университета, 2013 Мутации в гене CYP21A2, кодирующем фермент 21-гидроксилаза, являются причиной развития одного из наиболее распространенных наследственных заболеваний, врожденной дисфункции коры надпочечников (ВДКН). Более 90% случаев данного заболевания связано с нарушениями функционирования данного фермента.
openaire +1 more source
MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening. [PDF]
J Transl MedZhao Z +11 more
europepmc +1 more source
The role of Zearalenone in epigenetic modifications of candidate genes in Nellore heifers. [PDF]
Trop Anim Health ProdCoelho LADS +9 more
europepmc +1 more source
Management of the Adult with Congenital Adrenal Hyperplasia [PDF]
, 2010 Richard J. Auchus
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Post-ACTH peak cortisol response is associated with genotype in children with nonclassic congenital adrenal hyperplasia. [PDF]
Front Endocrinol (Lausanne)Dayno AN +6 more
europepmc +1 more source