Associated Papers
Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes.
Ferrarotti I et al.
Pulmonology, 2025
High Frequency of CTNNB1 Variants Associated with Benign and Malignant Liver Tumors in Patients with Congenital Porto-Systemic Shunts.
Tyraskis A et al.
Liver Cancer, 2025
Mid‑trimester ultrasound findings in tricho‑hepato‑enteric syndrome: A case report.
Mainas A et al.
Biomedical Reports, 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
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
Alpha-1 antitrypsin deficiency associated with rare SERPINA1 alleles p.(Phe76del) and p.(Asp280Val): A family study.
Lepiorz M et al.
Respiratory Medicine Case Reports, 2024
Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.
Lopez-Campos JL et al.
Human Genomics, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.
Ravasi G et al.
Genes, 2021
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
Alpha-1 Antitrypsin Screening in a Selected Cohort of Patients Affected by Chronic Pulmonary Diseases in Naples, Italy.
Annunziata A et al.
Journal of Clinical Medicine, 2021
Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency.
Foil KE
Therapeutic Advances in Chronic Disease, 2021
Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.
Loules G et al.
Journal of Clinical Medicine, 2020
Granularity of SERPINA1 alleles by DNA sequencing in CanCOLD.
Gupta N et al.
The European Respiratory Journal, 2020
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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.
Ortega VE et al.
American Journal of Respiratory and Critical Care Medicine, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Phenotyping of α-1-Antitrypsin by liquid chromatography-high resolution mass spectrometry.
Bengtson P et al.
Clinical Mass Spectrometry (del Mar, Calif.), 2016