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Journal Abstract Search

501 related items for PubMed ID: 27296815

  • 1. Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.
    Silva D, Oliveira MJ, Guimarães M, Lima R, Gomes S, Seixas S.
    Respir Med; 2016 Jul; 116():8-18. PubMed ID: 27296815
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  • 2. A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis.
    Carpagnano GE, Santacroce R, Palmiotti GA, Leccese A, Giuffreda E, Margaglione M, Foschino Barbaro MP, Aliberti S, Lacedonia D.
    Lung; 2017 Oct; 195(5):679-682. PubMed ID: 28668972
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  • 3. Alpha-1 antitrypsin Null mutations and severity of emphysema.
    Fregonese L, Stolk J, Frants RR, Veldhuisen B.
    Respir Med; 2008 Jun; 102(6):876-84. PubMed ID: 18353624
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  • 4. Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum.
    Seixas S, Marques PI.
    Appl Clin Genet; 2021 Jun; 14():173-194. PubMed ID: 33790624
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  • 9. Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency.
    Kueppers F, Andrake MD, Xu Q, Dunbrack RL, Kim J, Sanders CL.
    BMC Med Genet; 2019 Jul 15; 20(1):125. PubMed ID: 31307431
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Stoller JK, Hupertz V, Aboussouan LS.
    ; 1993 Jul 15. PubMed ID: 20301692
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  • 13. Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history.
    Vaz Rodrigues L, Costa F, Marques P, Mendonça C, Rocha J, Seixas S.
    Clin Genet; 2012 May 15; 81(5):462-9. PubMed ID: 21457231
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  • 14. The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.
    Ortega VE, Li X, O'Neal WK, Lackey L, Ampleford E, Hawkins GA, Grayeski PJ, Laederach A, Barjaktarevic I, Barr RG, Cooper C, Couper D, Han MK, Kanner RE, Kleerup EC, Martinez FJ, Paine R, Peters SP, Pirozzi C, Rennard SI, Woodruff PG, Hoffman EA, Meyers DA, Bleecker ER, NHLBI Subpopulations and Intermediate Outcomes Measures in COPD Study (SPIROMICS).
    Am J Respir Crit Care Med; 2020 Mar 01; 201(5):540-554. PubMed ID: 31661293
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  • 16. Heteropolymerization of α-1-antitrypsin mutants in cell models mimicking heterozygosity.
    Laffranchi M, Berardelli R, Ronzoni R, Lomas DA, Fra A.
    Hum Mol Genet; 2018 May 15; 27(10):1785-1793. PubMed ID: 29538751
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  • 17. Hereditary alpha-1-antitrypsin deficiency and its clinical consequences.
    Fregonese L, Stolk J.
    Orphanet J Rare Dis; 2008 Jun 19; 3():16. PubMed ID: 18565211
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  • 19. Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis.
    Hernández-Pérez JM, Ramos-Díaz R, Vaquerizo-Pollino C, Pérez JA.
    Pulmonology; 2023 Jun 19; 29(3):214-220. PubMed ID: 35346640
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