Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene
出版年份 2018 全文链接
标题
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene
作者
关键词
-
出版物
Molecular Diagnosis & Therapy
Volume 22, Issue 3, Pages 261-280
出版商
Springer Nature
发表日期
2018-02-15
DOI
10.1007/s40291-018-0319-y
参考文献
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注意：仅列出部分参考文献，下载原文获取全部文献信息。- Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women
- (2017) Enrico Carmina et al. HUMAN REPRODUCTION UPDATE
- Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia
- (2017) Alan A. Parsa et al. JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
- New developments in prenatal diagnosis of congenital adrenal hyperplasia
- (2017) Diya Kazmi et al. JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
- CYP21A2 intronic variants causing 21-hydroxylase deficiency
- (2017) Paola Concolino et al. METABOLISM-CLINICAL AND EXPERIMENTAL
- CYP21A2 genetics: When genotype does not fit phenotype
- (2016) Ilaria Sani et al. CLINICAL BIOCHEMISTRY
- Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations
- (2016) Carlos D. Bruque et al. Scientific Reports
- A rareCYP21A2mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance
- (2015) Ahmed Khattab et al. Annals of the New York Academy of Sciences
- Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase
- (2015) Pradeep S. Pallan et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia
- (2014) Ingeborg Brønstad et al. Endocrine Connections
- Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia
- (2013) Hsien-Hsiung Lee CLINICA CHIMICA ACTA
- Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population
- (2013) Paola Concolino et al. CLINICA CHIMICA ACTA
- CYP21A2 p.E238 Deletion as Result of Multiple Microconversion Events
- (2013) Paola Concolino et al. DIAGNOSTIC MOLECULAR PATHOLOGY
- Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort
- (2013) Nils Krone et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia
- (2013) S. Haider et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
- (2013) M. I. New et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study
- (2013) Sebastian Gidlöf et al. Lancet Diabetes & Endocrinology
- Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency
- (2012) Ingrid Nermoen et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Analysis of CYP21A1P and the duplicated CYP21A2 genes
- (2012) Li-Ping Tsai et al. GENE
- Three-dimensional Structure of Steroid 21-Hydroxylase (Cytochrome P450 21A2) with Two Substrates Reveals Locations of Disease-associated Variants
- (2012) Bin Zhao et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene
- (2012) O Lekarev et al. Journal of Perinatology
- Analysis of the CYP21A1P pseudogene: Indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes
- (2011) Li-Ping Tsai et al. ANALYTICAL BIOCHEMISTRY
- Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics
- (2011) P. Concolino et al. CLINICAL CHEMISTRY
- Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency
- (2011) W. Chen et al. CLINICAL CHEMISTRY
- Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia
- (2011) Roxana Marino et al. CLINICAL ENDOCRINOLOGY
- Detection of a Frequent Duplicated CYP21A2 Gene Carrying a Q318X Mutation in a General Population With Quantitative PCR Methods
- (2011) Maher Kharrat et al. DIAGNOSTIC MOLECULAR PATHOLOGY
- SDM--a server for predicting effects of mutations on protein stability and malfunction
- (2011) C. L. Worth et al. NUCLEIC ACIDS RESEARCH
- Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients
- (2011) Carolina Minutolo et al. PLoS One
- Sequence Analysis of CYP21A1P in a German Population to Aid in the Molecular Biological Diagnosis of Congenital Adrenal Hyperplasia
- (2010) C. Canturk et al. CLINICAL CHEMISTRY
- Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations
- (2010) Paola Concolino et al. CLINICAL CHEMISTRY AND LABORATORY MEDICINE
- Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia
- (2010) Zuzana Vrzalová et al. European Journal of Medical Genetics
- Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients
- (2010) Wiebke Arlt et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
- (2010) Gabriela P. Finkielstain et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Using protein design algorithms to understand the molecular basis of disease caused by protein–DNA interactions: the Pax6 example
- (2010) Andreu Alibés et al. NUCLEIC ACIDS RESEARCH
- Impact of Molecular Genetics on Congenital Adrenal Hyperplasia Management
- (2010) A. Balsamo et al. Sexual Development
- Genetics of congenital adrenal hyperplasia
- (2009) Nils Krone et al. BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- A new CYP21A1P/CYP21A2chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
- (2009) Paola Concolino et al. BMC Medical Genetics
- Two novelCYP21A2missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation
- (2009) Paola Concolino et al. IUBMB LIFE
- Duplications of the FunctionalCYP21A2Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect
- (2009) S. Kleinle et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia
- (2008) Paola Concolino et al. CLINICAL ENDOCRINOLOGY
- High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency
- (2008) Silvia Parajes et al. PLoS One
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