Associated Papers
Genetic polymorphisms linked to extreme postorthodontic external apical root resorption in Koreans.
Liu J et al.
Progress in Orthodontics, 2024
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2022
Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.
Biedziak B et al.
Journal of Clinical Medicine, 2022
A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene.
Hofstaetter JG et al.
Calcified Tissue International, 2022
The impact of GSTM1 and GSTT1 polymorphisms on susceptibility to gestational diabetes in Iranian population.
Montazeri-Najafabady N et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2022
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.
Ghaleb Y et al.
Metabolites, 2022
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
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
Bagyinszky E et al.
Brain Sciences, 2021
Lrp6 Genotype affects Individual Susceptibility to Nonalcoholic Fatty Liver Disease and Silibinin Therapeutic Response via Wnt/β-catenin-Cyp2e1 Signaling.
Chen LJ et al.
International Journal of Biological Sciences, 2021
The rs2302685 polymorphism in the LRP6 gene is associated with bone mineral density and body composition in Iranian children.
Montazeri-Najafabady N et al.
The Journal of Gene Medicine, 2020
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
The involvement of the canonical Wnt-signaling receptor LRP5 and LRP6 gene variants with ADHD and sexual dimorphism: Association study and meta-analysis.
Grünblatt E et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2019
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.
Marini NJ et al.
American Journal of Medical Genetics. Part A, 2019
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.
Giau VV et al.
International Journal of Molecular Sciences, 2019
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2019
The association of LRP6 rs2302685 (V1062I) polymorphism with the risk of hyperlipidemia in Iranian children and adolescents.
Montazeri-Najafabady N et al.
Annals of Human Genetics, 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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Genetic and epigenetic profiling of CLL disease progression reveals limited somatic evolution and suggests a relationship to memory-cell development.
Smith EN et al.
Blood Cancer Journal, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Functional analysis LRP6 novel mutations in patients with coronary artery disease.
Xu Y et al.
Plos One, 2014
Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.
Carter TC et al.
American Journal of Medical Genetics. Part A, 2011
Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort.
Agueda L et al.
Calcified Tissue International, 2010