496 related articles for article (PubMed ID: 28947017)
1. 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]
2. 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]
3. Identification and characterisation of eight novel SERPINA1 Null mutations.
Ferrarotti I; Carroll TP; Ottaviani S; Fra AM; O'Brien G; Molloy K; Corda L; Medicina D; Curran DR; McElvaney NG; Luisetti M
Orphanet J Rare Dis; 2014 Nov; 9():172. PubMed ID: 25425243
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Description of alpha-1-antitrypsin deficiency associated with PI*Q0ourém allele in La Palma Island (Spain) and a genotyping assay for its detection.
Hernández Pérez JM; Ramos Díaz R; Fumero García S; Pérez Pérez JA
Arch Bronconeumol; 2015 Jan; 51(1):e1-3. PubMed ID: 24673984
[TBL] [Abstract][Full Text] [Related]
6. Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
Lara B; Martínez MT; Blanco I; Hernández-Moro C; Velasco EA; Ferrarotti I; Rodriguez-Frias F; Perez L; Vazquez I; Alonso J; Posada M; Martínez-Delgado B
Respir Res; 2014 Oct; 15(1):125. PubMed ID: 25287719
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Sanger sequencing solved a cryptic case of severe alpha₁-antitrypsin deficiency.
Zhan SH; Abboud RT; Jung B; Kuchinka B; Ralston D; Casey B; Mattman A
Clin Biochem; 2012 Apr; 45(6):499-501. PubMed ID: 22330941
[TBL] [Abstract][Full Text] [Related]
9. Frequency of Rare Alpha-1 Antitrypsin Variants in Polish Patients with Chronic Respiratory Disorders.
Duk K; Zdral A; Szumna B; Roży A; Chorostowska-Wynimko J
Adv Exp Med Biol; 2016; 910():47-53. PubMed ID: 26987331
[TBL] [Abstract][Full Text] [Related]
10. Isoelectric focusing phenotyping and denaturing gradient gel electrophoresis genotyping: a comparison of two methods in detection of alpha-1-antitrypsin variants.
Ljujic M; Topic A; Divac A; Nikolic A; Petrovic-Stanojevic N; Surlan M; Mitic-Milikic M; Radojkovic D
Transl Res; 2008 May; 151(5):255-9. PubMed ID: 18433707
[TBL] [Abstract][Full Text] [Related]
11. 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
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software.
Zaimidou S; van Baal S; Smith TD; Mitropoulos K; Ljujic M; Radojkovic D; Cotton RG; Patrinos GP
Hum Mutat; 2009 Mar; 30(3):308-13. PubMed ID: 19021233
[TBL] [Abstract][Full Text] [Related]
14. α-1 Antitrypsin Genotype-Phenotype Discrepancy in a 42-Year-Old Man Who Carries the Null-Allele.
Pavičić T; Ćelap I; Njegovan M; Tešija Kuna A; Štefanović M
Lab Med; 2020 May; 51(3):301-305. PubMed ID: 31583408
[TBL] [Abstract][Full Text] [Related]
15. Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency.
Matamala N; Martínez MT; Lara B; Pérez L; Vázquez I; Jimenez A; Barquín M; Ferrarotti I; Blanco I; Janciauskiene S; Martinez-Delgado B
J Transl Med; 2015 Jul; 13():211. PubMed ID: 26141700
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [Molecular characterization of two variants of alpha-1-antitrypsin deficiency: PI Mpalermo and PI Plovel].
Jardí R; Rodríguez-Frías F; Casas F; Cotrina M; Vidal R; Miravitlles M; Pascual C
Med Clin (Barc); 1997 Oct; 109(12):463-6. PubMed ID: 9441182
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Alpha-1 antitrypsin deficiency caused by Null mutation].
Perrin J; Aimone-Gastin I; Balduyck M; Mercy M; Filhine-Trésarrieu P; Odou MF; Chaouat A; Chabot F
Rev Mal Respir; 2016 Sep; 33(7):612-7. PubMed ID: 26604020
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
