Associated Papers
Bone Disease Associated with Inactivating Aromatase Mutations and its Management.
Cavati G et al.
Calcified Tissue International, 2025
Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature.
Singhania P et al.
Bone Reports, 2022
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
36171209 (PubMed )
Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2
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
Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene
Özen S et al.
Journal of Clinical Research in Pediatric Endocrinology, 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
31533357 (PubMed )
Supplement: ijms-20-04605-s001.pdf
Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient.
Costanzo M et al.
Hormone Research in Paediatrics, 2018
Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effect.
Marino R et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
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