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Reduction of missed diagnosis of G6PD deficiency in heterozygous females by G6PD/6PGD ratio assay combined with ARMS-PCR
Reduction of missed diagnosis of G6PD deficiency in heterozygous females by G6PD/6PGD ratio assay combined with ARMS-PCR
Objective: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder that results in impaired en...
The prevalence of JAK2 exon12 mutations in Vietnamese patients with JAK2 V617F-negative polycythemia vera: frequent or rare?
The prevalence of JAK2 exon12 mutations in Vietnamese patients with JAK2 V617F-negative polycythemia vera: frequent or rare?
Purpose Polycythemia vera is a hematological malignancy characterized by the overproduction of red blood cells in the bone...
Mutational Screening for Mitochondrial tRNA Genes in 100 Women with Pre-eclampsia
Mutational Screening for Mitochondrial tRNA Genes in 100 Women with Pre-eclampsia
Objectives: Impairment of mitochondrial function caused by pathogenic mitochondrial DNA (mtDNA) mutations has been found t...
Common variants in Neuraminidases genes contribute to predisposition to and progression of chronic heart failure
Common variants in Neuraminidases genes contribute to predisposition to and progression of chronic heart failure
Introduction The role of neuraminidases in cardiovascular disease has recently gained increasing attention. However, the a...
Penalized Logistic Regression Analysis for Genetic Association Studies of Binary Phenotypes
Penalized Logistic Regression Analysis for Genetic Association Studies of Binary Phenotypes
Introduction: Increasingly, logistic regression methods for genetic association studies of binary phenotypes must be able...
Identification of a novel mutation in patients with type A insulin resistance syndrome
Identification of a novel mutation in patients with type A insulin resistance syndrome
Introduction: Type A insulin resistance syndrome is a rare type of congenital insulin resistance often caused by heterozyg...
The mitochondrial tRNAAsp T7561C, tRNAHis C12153T and A12172G mutations may be associated with essential hypertension in a Han Chinese pedigree
The mitochondrial tRNAAsp T7561C, tRNAHis C12153T and A12172G mutations may be associated with essential hypertension in a Han Chinese pedigree
Objectives: Mutations in mitochondrial tRNA (mt-tRNA) are the important causes for maternally inherited hypertension, howe...
Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts
Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts
Enamel hypoplasia causes reduction in the thickness of affected enamel and is one of the most common dental anomalies. Thi...
Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients
Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients
Introduction: The CHEK2 gene is known to be an important signal transducer involved in DNA repair, apoptosis, or cell cycl...
Screening for Mitochondrial tRNA Mutations in 318 Patients with Dilated Cardiomyopathy
Screening for Mitochondrial tRNA Mutations in 318 Patients with Dilated Cardiomyopathy
Objectives: Dilated cardiomyopathy (DCM) is a complex cardiovascular disease with unknown etiology. Although nuclear genes...
Association of PNPLA3 I148M with Liver Disease Biomarkers in Latinos
Association of PNPLA3 I148M with Liver Disease Biomarkers in Latinos
<b><i>Introduction:</i></b> Liver disease accounts for approximately 2 million deaths per year wor...
Family history of breast cancer is associated with elevated risk of prostate cancer: evidence for shared genetic risks
Family history of breast cancer is associated with elevated risk of prostate cancer: evidence for shared genetic risks
Introduction: Although breast and prostate cancers arise in different organs and are more frequent in the opposite sex, mu...
Association of PNPLA3 I148M with liver disease biomarkers in Latinos
Association of PNPLA3 I148M with liver disease biomarkers in Latinos
Introduction. Liver disease accounts for approximately 2 million deaths per year worldwide. The majority of liver diseases...
Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases
Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases
Multiple familial diseases in a single patient often present with overlapping symptomatology that confers difficulty in de...
Meta-Analysis of Joint Test of SNP and SNP-Environment Interaction with Heterogeneity
Meta-Analysis of Joint Test of SNP and SNP-Environment Interaction with Heterogeneity
Many complex diseases are caused by single nucleotide polymorphisms (SNPs), environmental factors, and the interaction bet...
PhosSNPs-Regulated Gene Network and Pathway Significant for Rheumatoid Arthritis
PhosSNPs-Regulated Gene Network and Pathway Significant for Rheumatoid Arthritis
<b><i>Objectives:</i></b> Peripheral blood mononuclear cells (PBMCs) are critical for immunity and...
Voltage-Gated Sodium Channel β1 Gene: An Overview
Voltage-Gated Sodium Channel β1 Gene: An Overview
<b><i>Background:</i></b> Voltage-gated sodium channels are protein complexes composed of 2 subuni...
Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population
Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population
<b><i>Background:</i></b> Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by one or ...