A. Oliver

发表

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

B. Ezquieta, M. Oyarzábal, C. Jariego, 2002, Clinical genetics.

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

B. Ezquieta, R. Gracía, A. Oliver, 1995, Human Genetics.

Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify ‘apparently mild’ CYP21A2 alleles which associate neonatal salt‐wasting disease

B. Ezquieta, J. López-Siguero, R. Barrio, 2010, Prenatal diagnosis.

MICROSATELLITE MARKERS IN THE INDIRECT ANALYSIS OF THE STEROID 21‐HYDROXYLASE GENE

B. Ezquieta, R. Gracía, C. Jariego, 1997, Prenatal diagnosis.

Improvement in growth after two years of growth hormone therapy in very young children born small for gestational age and without spontaneous catch-up growth: results of a multicenter, controlled, randomized, open clinical trial.

L. Ibáñez, J. Argente, J. López-Siguero, 2007, The Journal of clinical endocrinology and metabolism.

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

B. Ezquieta, J. Fernandez, C. Jariego, 2002, Acta paediatrica.