Associated Papers
Aromatase enzyme deficiency in an adult male patient and the effects of estrogen replacement therapy: a rare cause of tall stature.
Imre E et al.
Hormones (athens, Greece), 2025
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
Mutational Landscape Screening Through Comprehensive In Silico Analysis for Polycystic Ovarian Syndrome-Related Genes.
Dhar S et al.
Reproductive Sciences (thousand Oaks, Calif.), 2022
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
Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization.
Zhu WJ et al.
Molecular and Cellular Endocrinology, 2016
Genetic polymorphisms in estrogen-related genes and the risk of breast cancer among Han Chinese women.
Sun MY et al.
International Journal of Molecular Sciences, 2015
Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolism.
Chen Z et al.
Molecular and Cellular Endocrinology, 2015
MutaCYP: Classification of missense mutations in human cytochromes P450.
Fechter K et al.
Bmc Medical Genomics, 2014
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Genes governing premature ovarian failure.
Dixit H et al.
Reproductive Biomedicine Online, 2010
Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence.
Belgorosky A et al.
Hormone Research, 2009
Human models of aromatase deficiency.
Zirilli L et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2008
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
Mutations in the synthesis and action of estrogen: the critical role in the male of estrogen on pubertal growth, skeletal maturation, and bone mass.
Grumbach MM
Annals of the New York Academy of Sciences, 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
Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood.
Mullis PE et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Genetic mutations resulting in loss of aromatase activity in humans and mice.
Simpson ER
Journal of the Society for Gynecologic Investigation, 0
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