Associated Papers
Bone Disease Associated with Inactivating Aromatase Mutations and its Management.
Cavati G et al.
Calcified Tissue International, 2025
Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.
Yavas Abalı Z et al.
Frontiers in Endocrinology, 2024
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 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
Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.
Nagaraja MR et al.
Systems Biology in Reproductive Medicine, 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
Genetics of premature ovarian failure.
Bilgin EM et al.
Current Opinion in Obstetrics & Gynecology, 2015
MutaCYP: Classification of missense mutations in human cytochromes P450.
Fechter K et al.
Bmc Medical Genomics, 2014
New insights into the structural characteristics and functional relevance of the human cytochrome P450 2D6 enzyme.
Wang B et al.
Drug Metabolism Reviews, 2009
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
Genetic and phenotypic heterogeneity in ovarian failure: overview of selected candidate genes.
Simpson JL
Annals of the New York Academy of Sciences, 2008
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.
Lin L et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.
Robins T et al.
Molecular Endocrinology (baltimore, Md.), 2006
[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
Vitamin D biosynthesis and vitamin D 1 alpha-hydroxylase deficiency.
Miller WL et al.
Endocrine Development, 2003
Aromatase deficiency and estrogen resistance: from molecular genetics to clinic.
Bulun SE
Seminars in Reproductive Medicine, 2000
Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.
Auchus RJ et al.
Molecular Endocrinology (baltimore, Md.), 1999
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.
Wang JT et al.
American Journal of Human Genetics, 1998
Arginine-cysteine polymorphism at codon 264 of the human CYP19 gene does not affect aromatase activity.
Watanabe J et al.
Pharmacogenetics, 1997
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
A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom).
Conte FA et al.
The Journal of Clinical Endocrinology and Metabolism, 1994
Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.
Ito Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 1993
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