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。Congenital adrenal hyperplasia
Matthias K. Auer et al.
LANCET (2023)
Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene
Pavlos Fanis et al.
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM (2023)
Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management
Hedi L. Claahsen-van der Grinten et al.
ENDOCRINE REVIEWS (2022)
Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
Bas P. H. Adriaansen et al.
FRONTIERS IN ENDOCRINOLOGY (2022)
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease
Cinzia Carrozza et al.
FRONTIERS IN ENDOCRINOLOGY (2021)
p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche
Mahdieh Soveizi et al.
INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (2020)
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia
Valentina Guarnotta et al.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2020)
A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH)
Paola Concolino
MOLECULAR BIOLOGY REPORTS (2020)
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
Sabina Baumgartner-Parzer et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Deborah P. Merke et al.
NEW ENGLAND JOURNAL OF MEDICINE (2020)
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
Duarte Pignatelli et al.
FRONTIERS IN ENDOCRINOLOGY (2019)
The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis
Vassos Neocleous et al.
HORMONE AND METABOLIC RESEARCH (2019)
Metabolic Perspectives for Non-classical Congenital Adrenal Hyperplasia With Relation to the Classical Form of the Disease
Djuro Macut et al.
FRONTIERS IN ENDOCRINOLOGY (2019)
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene
Paola Concolino et al.
MOLECULAR DIAGNOSIS & THERAPY (2018)
Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Qizong Lao et al.
HUMAN GENETICS (2018)
Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia
Vassos Neocleous et al.
FRONTIERS IN ENDOCRINOLOGY (2018)
A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics
Marton Doleschall et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia
Vassos Neocleous et al.
INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (2017)
Schizophrenia risk from complex variation of complement component 4
Aswin Sekar et al.
NATURE (2016)
Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia
Rachel Morissette et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population
Paola Concolino et al.
CLINICA CHIMICA ACTA (2013)
High carrier frequency of 21-hydroxylase deficiency in Cyprus
A. A. P. Phedonos et al.
CLINICAL GENETICS (2013)
Analysis of the CYP21A1P pseudogene: Indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes
Li-Ping Tsai et al.
ANALYTICAL BIOCHEMISTRY (2011)
Detection of a Frequent Duplicated CYP21A2 Gene Carrying a Q318X Mutation in a General Population With Quantitative PCR Methods
Maher Kharrat et al.
DIAGNOSTIC MOLECULAR PATHOLOGY (2011)
Duplications of the Functional CYP21A2 Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect
S. Kleinle et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation
Fatima Abid et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2008)
High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency
Silvia Parajes et al.
PLOS ONE (2008)
High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect
L Loidi et al.
CLINICAL ENDOCRINOLOGY (2006)
PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module
HH Lee et al.
GENOMICS (2004)
Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in Caucasians:: The load of RCCX genetic diversity on major histocompatibility complex-associated disease
CA Blanchong et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2000)
分享论文
