Associated Papers
Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency.
Matamala N et al.
Respiratory Research, 2026
Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes.
Ferrarotti I et al.
Pulmonology, 2025
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
Spatial covariance reveals isothiocyanate natural products adjust redox stress to restore function in alpha-1-antitrypsin deficiency.
Sun S et al.
Cell Reports. Medicine, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
A novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report.
Ozdemir L et al.
Croatian Medical Journal, 2024
Tracing genetic diversity captures the molecular basis of misfolding disease.
Zhao P et al.
Nature Communications, 2024
Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.
Ferrarotti I et al.
Orphanet Journal of Rare Diseases, 2024
Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.
Lopez-Campos JL et al.
Human Genomics, 2023
Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection.
Schuler BA et al.
Plos One, 2023
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Sotnikova EA et al.
Journal of Personalized Medicine, 2022
Thrombotic risk determined by rare and common SERPINA1 variants in a population-based cohort study.
Manderstedt E et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency.
Foil KE
Therapeutic Advances in Chronic Disease, 2021
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Kiseleva AV et al.
Journal of Personalized Medicine, 2020
Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.
Ottaviani S et al.
Journal of Clinical Laboratory Analysis, 2020
Leveraging Population Genomics for Individualized Correction of the Hallmarks of Alpha-1 Antitrypsin Deficiency.
Wang C et al.
Chronic Obstructive Pulmonary Diseases (miami, Fla.), 2020
Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology.
Veith M et al.
International Journal of Chronic Obstructive Pulmonary Disease, 2019
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.
Giacopuzzi E et al.
Human Mutation, 2018
Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.
Silva D et al.
Respiratory Medicine, 2016
SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis.
Graham RP et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Alpha1-antitrypsin deficiency: a clinical-genetic overview.
Abboud RT et al.
The Application of Clinical Genetics, 2011
Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil.
Jardim JR et al.
Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia, 0
Alpha1-antitrypsin deficiency in Greece: Focus on rare variants.
Papiris SA et al.
Pulmonology, 0