Lilia Baldazzi
Bologna, Italy
Last Updated: 09/26/2026
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Found 11 publications
Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.
Journal: Frontiers in pediatrics
Published: August 10, 2020
Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
Journal: European journal of human genetics : EJHG
Published: February 20, 2020
Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone.
Journal: Journal of endocrinological investigation
Published: November 20, 2019
46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.
Journal: International journal of molecular sciences
Published: September 03, 2019
Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Journal: Clinical biochemistry
Published: April 29, 2019
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations.
Journal: Fertility and sterility
Published: November 28, 2017
A genetic epidemiology study of congenital adrenal hyperplasia in Italy.
Journal: Clinical genetics
Published: April 04, 2017
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia.
Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Published: January 08, 2017
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient.
Journal: Journal of endocrinological investigation
Published: March 30, 2015
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
Journal: European journal of human genetics : EJHG
Published: March 08, 2013
Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment.
Journal: Journal of clinical research in pediatric endocrinology
Published: November 17, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026