Begoña Ezquieta

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 188 citations · Full text

Genetics, Genetic Epidemiology, Pathology +17

Analysis of steroid 21-hydroxylase gene mutations in the Spanish population

Begoña Ezquieta, Antonio Oliver, Ricardo Gracía et al. · Human Genetics · 1995 · 120 citations

Biology, Somatic Variant, Spanish Population +10

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 duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis

Begoña Ezquieta, Magdalena Beneyto, Rafael Muñoz‐Pacheco et al. · Prenatal Diagnosis · 2006 · 41 citations

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