相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population
Ayca Dundar et al.
MOLECULAR BIOLOGY REPORTS (2019)
Clinical perspectives in congenital adrenal hyperplasia due to 3-hydroxysteroid dehydrogenase type 2 deficiency
Abdullah M. Al Alawi et al.
ENDOCRINE (2019)
Androgen excess is due to elevated 11-oxygenated androgens in treated children with congenital adrenal hyperplasia
Clemens Kamrath et al.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2018)
11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency
Adina F. Turcu et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)
Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene
Ayla Guven et al.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2017)
High-throughput analysis of 19 endogenous androgenic steroids by ultra-performance convergence chromatography tandem mass spectrometry
Jonathan L. Quanson et al.
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES (2016)
Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation
Ursina Probst-Scheidegger et al.
SEXUAL DEVELOPMENT (2016)
PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
Yongwook Choi et al.
BIOINFORMATICS (2015)
Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature
Marie-Anne Burckhardt et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2015)
Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids
Kei Takasawa et al.
CLINICAL ENDOCRINOLOGY (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
SIFT web server: predicting effects of amino acid substitutions on proteins
Ngak-Leng Sim et al.
NUCLEIC ACIDS RESEARCH (2012)
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Walter L. Miller et al.
ENDOCRINE REVIEWS (2011)
Molecular biology of the 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase gene family
J Simard et al.
ENDOCRINE REVIEWS (2005)
Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase deficiency
J Simard et al.
SEMINARS IN REPRODUCTIVE MEDICINE (2002)
分享论文
