205 related articles for article (PubMed ID: 34152895)
1. Alpha-1 antitrypsin deficiency hidden in allegedly normal variants.
Suárez-Lorenzo I; Hernández-Brito E; Almeida-Quintana L; Llanos CG; González-Quevedo N; Carrillo-Díaz T; Rodríguez-Gallego C
J Asthma; 2022 Jul; 59(7):1372-1375. PubMed ID: 34152895
[TBL] [Abstract][Full Text] [Related]
2. Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach.
Belmonte I; Barrecheguren M; López-Martínez RM; Esquinas C; Rodríguez E; Miravitlles M; Rodríguez-Frías F
Int J Chron Obstruct Pulmon Dis; 2016; 11():2535-2541. PubMed ID: 27877030
[TBL] [Abstract][Full Text] [Related]
3. Rapid genotyping of alpha 1 antitrypsin deletion mutation (PI*Mmalton) using bi-directional PCR allele-specific amplification.
Denden S; Lakhdar R; Leban N; Ben Chibani J; Haj Khelil A
Mol Biotechnol; 2010 Jun; 45(2):111-5. PubMed ID: 20108056
[TBL] [Abstract][Full Text] [Related]
4. 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; 29(3):214-220. PubMed ID: 35346640
[TBL] [Abstract][Full Text] [Related]
5. Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency.
Callea F; Giovannoni I; Francalanci P; Boldrini R; Faa G; Medicina D; Nobili V; Desmet VJ; Ishak K; Seyama K; Bellacchio E
Orphanet J Rare Dis; 2018 May; 13(1):79. PubMed ID: 29769092
[TBL] [Abstract][Full Text] [Related]
6. New
Matamala N; Gomez-Mariano G; Perez JA; Baladrón B; Torres-Durán M; Michel FJ; Saez R; Hernández-Pérez JM; Belmonte I; Rodriguez-Frias F; Blanco I; Strnad P; Janciauskiene S; Martinez-Delgado B
Am J Respir Cell Mol Biol; 2020 Oct; 63(4):444-451. PubMed ID: 32515985
[TBL] [Abstract][Full Text] [Related]
7. Alpha-1-antitrypsin deficiency associated with the Mattawa variant.
Lara B; Martínez-Delgado B; Torres ML; Marín-Arguedas S; Bustamante A; Miravitlles M
Arch Bronconeumol; 2013 Dec; 49(12):548-50. PubMed ID: 24183282
[TBL] [Abstract][Full Text] [Related]
8. Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?
Beletic A; Dudvarski-Ilic A; Milenkovic B; Nagorni-Obradovic L; Ljujic M; Djordjevic V; Mirkovic D; Radojkovic D; Majkic-Singh N
Biochem Med (Zagreb); 2014; 24(2):293-8. PubMed ID: 24969923
[TBL] [Abstract][Full Text] [Related]
9. Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.
Joly P; Guillaud O; Hervieu V; Francina A; Mornex JF; Chapuis-Cellier C
Orphanet J Rare Dis; 2015 Oct; 10():130. PubMed ID: 26446624
[TBL] [Abstract][Full Text] [Related]
10. Identification of a new defective SERPINA1 allele (PI*Z
Hernández-Pérez JM; Ramos-Díaz R; Pérez JA
Respir Med; 2017 Oct; 131():114-117. PubMed ID: 28947017
[TBL] [Abstract][Full Text] [Related]
11. PCR-based screening for the most prevalent alpha 1 antitrypsin deficiency mutations (PI S, Z, and Mmalton) in COPD patients from Eastern Tunisia.
Denden S; Lakhdar R; Keskes NB; Hamdaoui MH; Chibani JB; Khelil AH
Biochem Genet; 2013 Oct; 51(9-10):677-85. PubMed ID: 23666394
[TBL] [Abstract][Full Text] [Related]
12. An Alpha-1 Antitrypsin Deficiency Screening Study in Patients with Chronic Obstructive Pulmonary Disease, Bronchiectasis, or Asthma in Turkey.
Tural Onur S; Natoli A; Dreger B; Arınç S; Sarıoğlu N; Çörtük M; Karadoğan D; Şenyiğit A; Yıldız BP; Köktürk N; Argun Barıs S; Kodalak Cengiz S; Polatli M
Int J Chron Obstruct Pulmon Dis; 2023; 18():2785-2794. PubMed ID: 38046982
[TBL] [Abstract][Full Text] [Related]
13. 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
[TBL] [Abstract][Full Text] [Related]
14. The Distribution of Alpha-1 Antitrypsin Genotypes Between Patients with COPD/Emphysema, Asthma and Bronchiectasis.
Veith M; Tüffers J; Peychev E; Klemmer A; Kotke V; Janciauskiene S; Wilhelm S; Bals R; Koczulla AR; Vogelmeier CF; Greulich T
Int J Chron Obstruct Pulmon Dis; 2020; 15():2827-2836. PubMed ID: 33192056
[TBL] [Abstract][Full Text] [Related]
15. 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; 27(10):1785-1793. PubMed ID: 29538751
[TBL] [Abstract][Full Text] [Related]
16. Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.
Lopez-Campos JL; Rapun N; Czischke K; Jardim JR; Acquier MF; Munive AA; Günen H; Drobnic E; Miravitlles M; Osaba L
Hum Genomics; 2023 Jun; 17(1):48. PubMed ID: 37277845
[TBL] [Abstract][Full Text] [Related]
17. Rapid detection of Mmalton α1-antitrypsin deficiency allele by real-time PCR and melting curves in whole blood, serum and dried blood spot samples.
Belmonte I; Montoto L; Miravitlles M; Barrecheguren M; Esquinas C; Rodríguez E; Giralt M; Rodríguez-Frías F
Clin Chem Lab Med; 2016 Feb; 54(2):241-8. PubMed ID: 26154193
[TBL] [Abstract][Full Text] [Related]
18. The prevalence of PI*S and PI*Z SERPINA1 alleles in healthy individuals and COPD patients in Saudi Arabia: A case-control study.
Al-Jameil N; Hassan AA; Hassanato R; Isac SR; Otaiby MA; Al-Shareef F; Al-Maarik B; Ajeyan IA; Al-Bahloul K; Ghani S; Al-Torbak D
Medicine (Baltimore); 2017 Oct; 96(42):e8320. PubMed ID: 29049242
[TBL] [Abstract][Full Text] [Related]
19. 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; 20(1):125. PubMed ID: 31307431
[TBL] [Abstract][Full Text] [Related]
20. Alpha1-antitrypsin deficiency in Greece: Focus on rare variants.
Papiris SA; Veith M; Papaioannou AI; Apollonatou V; Ferrarotti I; Ottaviani S; Tzouvelekis A; Tzilas V; Rovina N; Stratakos G; Gerogianni I; Daniil Z; Kolilekas L; Dimakou K; Pitsidianakis G; Tzanakis N; Tryfon S; Fragopoulos F; Antonogiannaki EM; Lazaratou A; Fouka E; Papakosta D; Emmanouil P; Anagnostopoulos N; Karampitsakos T; Vlami K; Kallieri M; Lyberopoulos P; Loukides S; Bouros D; Bush A; Balduyck M; Lombard C; Cottin V; Mornex JF; Vogelmeier CF; Greulich T; Manali ED
Pulmonology; 2024; 30(1):43-52. PubMed ID: 36797151
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
