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。PREVALENCE AND CHARACTERISTICS OF ADRENAL TUMORS AND MYELOLIPOMAS IN CONGENITAL ADRENAL HYPERPLASIA: A SYSTEMATIC REVIEW AND META-ANALYSIS
Ingrid Nermoen et al.
ENDOCRINE PRACTICE (2020)
Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations
Krupali Bulsari et al.
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM (2018)
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations
Chongjuan Gu et al.
GENE (2017)
Congenital Adrenal Hyperplasia
Selma Feldman Witchel
JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY (2017)
Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency
Nurgun Kandemir et al.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2017)
Congenital adrenal hyperplasia
Diala El-Maouche et al.
LANCET (2017)
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
Ahmed Khattab et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
Krupali Bulsari et al.
ENDOCRINE (2017)
The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency
Yang Long et al.
ENDOCRINE JOURNAL (2016)
Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene
Huy-Hoang Nguyen et al.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2016)
Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report
Pattaranatcha Charnwichai et al.
BMC ENDOCRINE DISORDERS (2016)
The next 150 years of congenital adrenal hyperplasia
Adina F. Turcu et al.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2015)
Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia
Lingling Xu et al.
STEROIDS (2015)
Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency
Xiaojing Wang et al.
STEROIDS (2015)
A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy
Mohammad A. Alqahtani et al.
INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (2015)
Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency
Katja Dumic et al.
INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (2014)
A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency
Manna Zhang et al.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2013)
One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study
Sebastian Gidlof et al.
LANCET DIABETES & ENDOCRINOLOGY (2013)
Molecular testing in congenital adrenal hyperplasia due to 21a-hydroxylase deficiency in the era of newborn screening
K. Sarafoglou et al.
CLINICAL GENETICS (2012)
Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients
Wiebke Arlt et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
Silvia Parajes et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Steroid 11β-hydroxylase deficiency congenital adrenal hyperplasia
Saroj Nimkarn et al.
TRENDS IN ENDOCRINOLOGY AND METABOLISM (2008)
Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
Li-Qiang Zhao et al.
WORLD JOURNAL OF PEDIATRICS (2008)
The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling
K Arnold et al.
BIOINFORMATICS (2006)
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency:: Functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene
N Krone et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Modulation of aldosterone and cortisol synthesis on the molecular level
M Lisurek et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2004)
Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones
AH Payne et al.
ENDOCRINE REVIEWS (2004)
Congenital adrenal hyperplasia
PW Speiser et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
Modelling of three-dimensional structures of cytochromes P45011B1 and 11B2
NV Belkina et al.
JOURNAL OF INORGANIC BIOCHEMISTRY (2001)
分享论文
