Associated Papers
Assisted reproductive treatment for primary infertility in patients with partial or isolated 17α-hydroxylase/17,20-lyase deficiency: a case series and literature review.
Chai Q et al.
Journal of Assisted Reproduction and Genetics, 2025
Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.
Arun AS et al.
The Pharmacogenomics Journal, 2025
17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.
Siklar Z et al.
Endocrine, 2024
A differential expression of an identical mutation in CYP17A1 gene in two infertility patients: a case report.
Rabinovich E et al.
Journal of Medical Case Reports, 2024
Successful Pregnancy in Isolated 17,20-lyase Deficiency Without Glucocorticoid Use or Assisted Reproduction Techniques.
de Oliveira JM et al.
Jcem Case Reports, 2024
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.
Chen H et al.
Blood Pressure, 2023
Endocrine profiles and cycle characteristics of infertile 17α-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study.
Pan P et al.
Journal of Ovarian Research, 2023
17 alpha-hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation.
Han LH et al.
Clinical Case Reports, 2022
Phenotypic Heterogeneity and Fertility Potential of Patients With 17-Hydroxylase/17,20-lyase Deficiency.
Xu Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.
Lee WS et al.
Scientific Reports, 2021
TRIM71 Deficiency Causes Germ Cell Loss During Mouse Embryogenesis and Is Associated With Human Male Infertility.
Torres-Fernández LA et al.
Frontiers in Cell and Developmental Biology, 2021
[Clinical and genetic analysis of a patient with 17-hydroxylase/17,20-lyase deficiency].
Zeng Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency.
Marsh CA et al.
Fertility and Sterility, 2014
The syndrome of 17,20 lyase deficiency.
Miller WL
The Journal of Clinical Endocrinology and Metabolism, 2012
A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17alpha-hydroxylase deficiency.
Lee LS et al.
Molecular and Cellular Endocrinology, 2006
Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2.
Loukola A et al.
European Journal of Human Genetics : Ejhg, 2004
A novel compound heterozygous mutation in the CYP17 (P450 17alpha-hydroxylase) gene leading to 17alpha-hydroxylase/17,20-lyase deficiency.
Hahm JR et al.
Metabolism: Clinical and Experimental, 2003
Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.
Van Den Akker EL et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.
Biason-Lauber A et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.
Stratakis CA et al.
Critical Reviews in Clinical Laboratory Sciences, 1999
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
CYP17 gene analysis in hyperandrogenised women with and without exaggerated 17-hydroxyprogesterone response to ovarian stimulation.
Liović M et al.
Journal of Endocrinological Investigation, 1997
Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.
Laflamme N et al.
The Journal of Clinical Endocrinology and Metabolism, 1996