Associated Papers
Novel Variant in the NLRP12 Gene: Insights From a Case Report and Systematic Review.
Bouramtane A et al.
International Journal of Immunogenetics, 2025
Association Between Pathogenic Variants in NLRP12 and Autoinflammatory Disease: A Comprehensive Systematic Review.
Vatandoost N et al.
International Journal of Immunogenetics, 2025
A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disorders.
Chetta M et al.
Computational and Structural Biotechnology Journal, 2024
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.
Aitkulova A et al.
Biomedical Reports, 2022
NLRP12-associated systemic autoinflammatory diseases in children.
Wang HF
Pediatric Rheumatology Online Journal, 2022
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
NLRP12 gene mutation in India: case finding and diagnosis made easy in the days of whole exome sequencing.
Ghosh K
Annals of the Rheumatic Diseases, 2021
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.
Suri D et al.
Frontiers in Immunology, 2021
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
NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence.
Del Porto F et al.
Rheumatology (oxford, England), 2020
Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants.
Tucker LB et al.
Pediatric Rheumatology Online Journal, 2019
Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India.
Ghosh K et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2019
The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.
Cantarini L et al.
Clinical Rheumatology, 2015
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014