Associated Papers
Clinical analysis of salt-wasting in infants due to genetic aetiology.
Xie Y et al.
Endokrynologia Polska, 2024
Association between Aldosterone Synthase (CYP11B2) Gene Polymorphism and Hypertension in Pashtun Ethnic Population of Khyber Pakhtunkwha, Pakistan.
Shah WA et al.
Genes, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.
Liu YX et al.
Frontiers in Cardiovascular Medicine, 2022
36277747 (PubMed )
Supplement: Data_Sheet_1.xls › Data_Sheet_1
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Aldosterone signaling defect in young infants: single-center report and review.
Wijaya M et al.
Bmc Endocrine Disorders, 2021
Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance.
Turan I et al.
Clinical Endocrinology, 2018
High Frequency of Variants of Candidate Genes in Black Africans with Low Renin-Resistant Hypertension.
Jones ES et al.
American Journal of Hypertension, 2017
[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
Genetic polymorphism of CYP11B2 gene and stroke in the Han Chinese population and a meta-analysis.
Tu Y et al.
Pharmacogenetics and Genomics, 2011
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
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