Associated Papers
Utilization of the All of Us Research Program in a study of genetics in Yao syndrome.
Wu S et al.
The Journal of Allergy and Clinical Immunology, 2025
Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort.
Berry V et al.
Genes, 2025
The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment.
Matykiewicz J et al.
Scientific Reports, 2025
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
Hidradenitis Suppurativa-Related Autoinflammatory Syndromes: An Updated Review on the Clinics, Genetics, and Treatment of Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PASH), Pyogenic Arthritis, Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PAPASH), Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO), and Rarer Forms.
Maronese CA et al.
Dermatologic Clinics, 2024
DOCK8 Mutation in Patient with Juvenile Idiopathic Arthritis and Sjögren's Syndrome.
Opoka-Winiarska V et al.
International Journal of Molecular Sciences, 2024
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 2024
Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series.
Williamson KA et al.
Frontiers in Immunology, 2024
Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk-Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland.
Kałużewski T et al.
International Journal of Molecular Sciences, 2023
Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling.
de Oliveira ASLE et al.
Biomolecules, 2022
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.
Rojas-Restrepo J et al.
Frontiers in Immunology, 2021
Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis.
Córdova-Fletes C et al.
Autoimmunity, 2020
Molecular characteristics of breast cancer according to clinicopathological factors.
Huszno J et al.
Molecular and Clinical Oncology, 2019
Functional polymorphisms of innate immunity receptors are not risk factors for the non-SBP type bacterial infections in cirrhosis.
Dinya T et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2018
Genetic profile of patients with early onset inflammatory bowel disease.
Girardelli M et al.
Gene, 2018
Mutations in fetal genes involved in innate immunity and host defense against microbes increase risk of preterm premature rupture of membranes (PPROM).
Modi BP et al.
Molecular Genetics & Genomic Medicine, 2017
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
Kim YC et al.
Plos One, 2017
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
Altered pattern of tumor necrosis factor-alpha production in peripheral blood monocytes from Crohn's disease.
Loganes C et al.
World Journal of Gastroenterology, 2016
NOD1 in contrast to NOD2 functional polymorphism influence Chlamydia trachomatis infection and the risk of tubal factor infertility.
Branković I et al.
Pathogens and Disease, 2015
Innate immune gene polymorphisms in tuberculosis.
Azad AK et al.
Infection and Immunity, 2012
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Wang K et al.
Nucleic Acids Research, 2010
Genetic contributions to disparities in preterm birth.
Anum EA et al.
Pediatric Research, 2009
Genetic contributions to preterm birth: implications from epidemiological and genetic association studies.
Plunkett J et al.
Annals of Medicine, 2008
Ethnic differences of polymorphisms in cytokine and innate immune system genes in pregnant women.
Nguyen DP et al.
Obstetrics and Gynecology, 2004
Crohn's associated NOD2 gene variants are not involved in determining susceptibility to multiple sclerosis.
Sawcer S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2003
The CARD15 2936insC mutation and TLR4 896 A>G polymorphism in African Americans and risk of preterm premature rupture of membranes (PPROM).
Ferrand PE et al.
Molecular Human Reproduction, 2002