Associated Papers
Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.
Ghorbanpour A et al.
Molecular Medicine (cambridge, Mass.), 2026
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant
Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation.
Berger K et al.
Journal of Personalized Medicine, 2022
MIS-C: A COVID-19-as sociated condition between hypoimmunity and hyperimmunity.
Gelzo M et al.
Frontiers in Immunology, 2022
36263058 (PubMed )
Supplement: Table_3.xlsx › Risultati
Functional Defect of Neutrophils Causing Dermatophytosis: Case Report.
Constantino-Silva RN et al.
Journal of Fungi (basel, Switzerland), 2020
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.
Ashton JJ et al.
Clinical and Translational Gastroenterology, 2020
32463623 (PubMed )
Supplement: ct9-11-e00129-s005.docx
Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages.
Kutukculer N et al.
Scandinavian Journal of Immunology, 2019
Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.
Denson LA et al.
Gastroenterology, 2018
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7
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