Associated Papers
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2022
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
Bagyinszky E et al.
Brain Sciences, 2021
Genome-Wide Association Identifies Risk Pathways for SAPHO Syndrome.
Cai R et al.
Frontiers in Cell and Developmental Biology, 2021
Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.
Bagyinszky E et al.
Diagnostics (basel, Switzerland), 2020
Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.
Senanarong V et al.
Diagnostics (basel, Switzerland), 2020
Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.
Simpson CL et al.
Bmc Medical Genetics, 2019
A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease.
Giau VV et al.
Clinical Interventions in Aging, 2018
Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.
Van Giau V et al.
Neuropsychiatric Disease and Treatment, 2018
Complement Regulates Nutrient Influx and Metabolic Reprogramming during Th1 Cell Responses.
Kolev M et al.
Immunity, 2015
Screening of three novel candidate genes in arrhythmogenic right ventricular cardiomyopathy.
Christensen AH et al.
Genetic Testing and Molecular Biomarkers, 2011
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.
Zhang G et al.
Human Mutation, 2010
Genetic association of CTNNA3 with late-onset Alzheimer's disease in females.
Miyashita A et al.
Human Molecular Genetics, 2007
Is alpha-T catenin (VR22) an Alzheimer's disease risk gene?
Bertram L et al.
Journal of Medical Genetics, 2007
Differential downregulation of alphaT-catenin expression in placenta: trophoblast cell type-dependent imprinting of the CTNNA3 gene.
van Dijk M et al.
Gene Expression Patterns : Gep, 2004