Associated Papers
Bone Disease Associated with Inactivating Aromatase Mutations and its Management.
Cavati G et al.
Calcified Tissue International, 2025
46,XX aromatase deficiency: A single-center experience with the varied spectrum and recurrent variants, and a systematic review of hormonal parameters.
Yami Channaiah C et al.
Annales D'endocrinologie, 2024
A mechanistic toxicology study to grasp the mechanics of zearalenone estrogenicity: Spotlighting aromatase and the effects of its genetic variability.
Perugino F et al.
Toxicology, 2024
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
In silico analysis of nsSNPs in CYP19A1 gene affecting breast cancer associated aromatase enzyme.
Pavithran H et al.
Journal of Genetics, 2021
Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature.
Fan L et al.
Clinical Endocrinology, 2020
Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function.
Praveen VP et al.
Journal of the Endocrine Society, 2020
46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.
Baronio F et al.
International Journal of Molecular Sciences, 2019
Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence.
Belgorosky A et al.
Hormone Research, 2009
Recognizing rare disorders: aromatase deficiency.
Jones ME et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2007
[Rare forms of female pseudohermaphroditism: when to investigate?].
Castro Md et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2005
A case of female pseudohermaphroditism caused by aromatase deficiency.
Nagasaki K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2004
Aromatase deficiency and estrogen resistance: from molecular genetics to clinic.
Bulun SE
Seminars in Reproductive Medicine, 2000
Estrogen: consequences and implications of human mutations in synthesis and action.
Grumbach MM et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene.
Ludwig M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0