Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency
Garrelfs MR et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Clinical analysis of salt-wasting in infants due to genetic aetiology.
Xie Y et al.
Endokrynologia Polska, 2024
Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.
Gurpinar Tosun B et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.
Faingelernt Y et al.
American Journal of Medical Genetics. Part A, 2021
Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.
Merakou C et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Spatially restricted substrate-binding site of cortisol-synthesizing CYP11B1 limits multiple hydroxylations and hinders aldosterone synthesis.
Mukai K et al.
Current Research in Structural Biology, 2021
Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism.
Martín-Rivada Á et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis.
Papailiou S et al.
Endocrine Regulations, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.
Bizzarri C et al.
Italian Journal of Pediatrics, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
The Aldosterone/Renin Ratio as a Diagnostic Tool for the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants.
Ruecker B et al.
Hormone Research in Paediatrics, 2015
Disorders of aldosterone synthesis, secretion, and cellular function.
Root AW
Current Opinion in Pediatrics, 2014
[Functional analysis of +11G > A single nucleotide polymorphisms in intron 3 of human urate transporter 1 gene].
Lu J et al.
Zhonghua Nei Ke Za Zhi, 2014
Computational analysis of functional single nucleotide polymorphisms associated with the CYP11B2 gene.
Jia M et al.
Plos One, 2014
Homozygosity for a mutation in the CYP11B2 gene in an infant with congenital corticosterone methyl oxidase deficiency type II.
Jessen CL et al.
Acta Paediatrica (oslo, Norway : 1992), 2012
Aldosterone synthase deficiency type II with hypospadias.
Gucev Z et al.
Indian Pediatrics, 2012
Fission yeast Schizosaccharomyces pombe as a new system for the investigation of corticosterone methyloxidase deficiency-causing mutations.
Tin MK et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2011
[Molecular genetic verification of isolated mineralocorticoid deficiency due to aldosterone synthase deficiency].
Kalinchenko NY et al.
Problemy Endokrinologii, 2009
A compound heterozygote case of type II aldosterone synthase deficiency.
Dunlop FM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
Peter M et al.
Hormone Research, 1999
Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.
Peter M et al.
European Journal of Pediatrics, 1998