J M Varela

Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations

Begoña Ezquieta, E. Cueva, J M Varela et al. · Acta Paediatrica · 2002 · 45 citations · Full text

Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21‐hydroxylase deficiency) in the Spanish population

Begoña Ezquieta, E. Cueva, Mirentxu Oyarzabal et al. · Clinical Genetics · 2002 · 31 citations

Non‐classical 21‐hydroxylase deficiency in children: association of adrenocorticotropic hormone‐stimulated 17‐hydroxyprogesterone with the risk of compound heterozygosity with severe mutations

Begoña Ezquieta, E. Cueva, J M Varela et al. · Acta Paediatrica · 2002 · 31 citations

A Novel Frameshift Mutation in the First Exon of the 21-OH Gene Found in Homozygosity in an Apparently Nonconsanguineous Family

Begoña Ezquieta, Mirentxu Oyarzabal, C Jariego et al. · Hormone Research in Paediatrics · 1999 · 26 citations

Genetics, Molecular Biology, Pathology +18

Nonisotopic detection of point mutations in CYP21B gene in steroid 21-hydroxylase deficiency

Begoña Ezquieta, J M Varela, C Jariego et al. · Clinical Chemistry · 1996 · 22 citations · Full text