Associated Papers
Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes.
Ferrarotti I et al.
Pulmonology, 2025
Pi*M Palermo Mutation in Bronchiectasis due to Alpha-1 Antitrypsin Deficiency: A Rare Genetic Cause.
Yildirimli B et al.
Medeniyet Medical Journal, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Exome-based genotype-first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype.
Silva Rodriguez M et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2025
Characterization of the Mmalton carrier's cohort within the EARCO (European Alpha- 1 Antitrypsin Research Collaboration) registry.
Ferraz BD et al.
Bmc Pulmonary Medicine, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Clinical implications of the SERPINA1 variant, MPalermo, and alpha-1 antitrypsin deficiency in Türkiye.
Karadoğan D et al.
Bmc Pulmonary Medicine, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
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
Heterozygous SERPINA1 Defects and Their Impact on Clinical Manifestations of Patients with Predominantly Antibody Deficiencies.
Sarrou S et al.
International Journal of Molecular Sciences, 2024
Tracing genetic diversity captures the molecular basis of misfolding disease.
Zhao P et al.
Nature Communications, 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
Utility of the Serum Protein Electrophoresis in the Opportunistic Screening for the Deficiency of Alpha-1 Antitrypsin.
Fernández-Gomez B et al.
Diagnostics (basel, Switzerland), 2023
Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.
Lopez-Campos JL et al.
Human Genomics, 2023
Capturing the conversion of the pathogenic alpha-1-antitrypsin fold by ATF6 enhanced proteostasis.
Sun S et al.
Cell Chemical Biology, 2023
Identification of Variants in Alpha-1-Antitrypsin by High Resolution Melting.
Bidla G et al.
The Journal of Applied Laboratory Medicine, 2021
Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency.
Foil KE
Therapeutic Advances in Chronic Disease, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic 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
Clinical manifestations in patients with PI*MMMalton genotypes. A matter still unsolved in alpha-1 antitrypsin deficiency.
Aiello M et al.
Respirology Case Reports, 2020
A rare mutation on alpha-1 antitrypsin deficit and lung fibrosis: case report.
Afonso M et al.
Sarcoidosis, Vasculitis, and Diffuse Lung Diseases : Official Journal of Wasog, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
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
Molecular Detection of the Frequent Allele F52del in Alpha 1 Antitrypsin Deficiency.
Martínez Bugallo F et al.
Archivos De Bronconeumologia, 2018
Spectrum of Alpha-1 Antitripsin Deficiency Mutations Detected in Tenerife.
Martínez Bugallo F et al.
Archivos De Bronconeumologia, 2017
Molecular characterization of PI*Q0la palma , a new alpha-1-antitrypsin null allele that combines two defective genetic variants.
Hernández-Pérez JM et al.
Clinical Genetics, 2017
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
Frequency of Rare Alpha-1 Antitrypsin Variants in Polish Patients with Chronic Respiratory Disorders.
Duk K et al.
Advances in Experimental Medicine and Biology, 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
Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients.
Suh-Lailam BB et al.
American Journal of Clinical Pathology, 2014
Alpha1-antitrypsin deficiency: a clinical-genetic overview.
Abboud RT et al.
The Application of Clinical Genetics, 2011
Clinical manifestations of the Mmalton alpha-1 antitrypsin deficiency variant.
Figueira Gonçalves JM et al.
Pulmonology, 0
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
Alpha-1 antitrypsin deficiency in Madeira Island: The first null variant and the contribution of deficient genotypes.
Gonçalves AS et al.
Pulmonology, 0