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21-hydroxylase deficiency
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Quality of life in children with 21-hydroxylase deficiency
2020 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
False positivity in newborn screening of 21-hydroxylase deficiency
2019 |
Third Faculty of Medicine
publication
Procedure in the suspected case of the 21-hydroxylase deficiency detected in Czech newborn screening
2017 |
Third Faculty of Medicine
publication
Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency
2010 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations
2003 |
Second Faculty of Medicine
publication
Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype
2024 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Substitution in the promoter region ofthe CYP21 affects a phenotype ofthe disease in patients with 21-hydroxylase deficiency
2009 |
Third Faculty of Medicine
publication
Mutation detection in the CYP21B gene determining virilized and non-classical forms of steroid 21-hydroxylase deficiency
2000 |
Second Faculty of Medicine, Central Library of Charles University
publication
Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency: Results of a multicentre study
2001 |
Third Faculty of Medicine
publication
Rapid and Efficient Method for Detection of A/C 655G Mutation in Patients with Congenital Steroid 21-hydroxylase Deficiency
1996 |
Second Faculty of Medicine, Central Library of Charles University
publication
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
2023 |
First Faculty of Medicine
publication
Lessons From 30 Years of Clinical Diagnosis and Treatment of Congenital Adrenal Hyperplasia in Five Middle European Countries
2001 |
Third Faculty of Medicine
publication
Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia
2005 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone
2012 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria
2007 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications
2019 |
Second Faculty of Medicine
publication
Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations
2012 |
First Faculty of Medicine
publication
Modification of female pseudohermaphroditism in patients with congenital adrenal hyperplasia
2006 |
Second Faculty of Medicine
publication
Late (non-classic) adrenal hyperplasia
2007 |
Second Faculty of Medicine
publication
Prenatal and postnatal development of the adrenal glands and adrenal steroid synthesis: effect on newborn screening for congenital adrenal hyperplasia
2012 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Xp21 microdeletion syndrome: Severe cause of adrenal insufficiency, muscular dystrophy, plasma lipid disorder and developmental delay in a two-month-old child with failure to thrive
2012 |
Second Faculty of Medicine
publication
Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia
2011 |
Central Library of Charles University, Third Faculty of Medicine
publication
New genetic causes of primary adrenal insufficiency
2018 |
Faculty of Medicine in Pilsen
publication
Novel Insight into Etiology, Diagnosis and Management of Primary Adrenal Insufficiency
2014 |
Second Faculty of Medicine
publication
Growth and adult height in patients with congenital adrenal hyperplasia
1995 |
Second Faculty of Medicine