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Items: 1 to 20 of 173

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. doi: 10.1016/j.rmed.2016.05.002. Epub 2016 May 3.

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. doi: 10.1007/s00408-017-0033-2. Epub 2017 Jul 1.

PMID:
28668972
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. doi: 10.1016/j.rmed.2008.01.009. Epub 2008 Mar 18.

4.

Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population.

Meira L, Boaventura R, Seixas S, Sucena M.

COPD. 2018 Feb;15(1):4-9. doi: 10.1080/15412555.2017.1414779. Epub 2018 Feb 2.

PMID:
29393705
5.

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;81(5):462-9. doi: 10.1111/j.1399-0004.2011.01670.x. Epub 2011 Apr 25.

PMID:
21457231
6.

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 26;9:172. doi: 10.1186/s13023-014-0172-y.

7.

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. doi: 10.1007/5584_2016_213.

PMID:
26987331
8.

Hereditary alpha-1-antitrypsin deficiency and its clinical consequences.

Fregonese L, Stolk J.

Orphanet J Rare Dis. 2008 Jun 19;3:16. doi: 10.1186/1750-1172-3-16. Review.

9.

Alpha-1 Antitrypsin Deficiency.

Stoller JK, Lacbawan FL, Aboussouan LS.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Oct 27 [updated 2017 Jan 19].

10.

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 7;15:125. doi: 10.1186/s12931-014-0125-y.

11.

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. doi: 10.1093/hmg/ddy090.

PMID:
29538751
12.

An unusual case of alpha-1-antitrypsin deficiency: SZ/Z.

Speevak MD, DeMarco ML, Wiebe NS, Chapman KR.

Clin Biochem. 2019 Feb;64:49-52. doi: 10.1016/j.clinbiochem.2018.12.008. Epub 2018 Dec 21.

PMID:
30579752
13.

Identification of a new defective SERPINA1 allele (PI*Zla palma) encoding an alpha-1-antitrypsin with altered glycosylation pattern.

Hernández-Pérez JM, Ramos-Díaz R, Pérez JA.

Respir Med. 2017 Oct;131:114-117. doi: 10.1016/j.rmed.2017.08.015. Epub 2017 Aug 16.

PMID:
28947017
14.

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 Oct 11;11:2535-2541. eCollection 2016.

15.

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. doi: 10.1097/MD.0000000000008320.

16.

The prevalence of alpha-1 antitrypsin deficiency in Ireland.

Carroll TP, O'Connor CA, Floyd O, McPartlin J, Kelleher DP, O'Brien G, Dimitrov BD, Morris VB, Taggart CC, McElvaney NG.

Respir Res. 2011 Jul 13;12:91. doi: 10.1186/1465-9921-12-91.

17.

Description of 22 new alpha-1 antitrypsin genetic variants.

Renoux C, Odou MF, Tosato G, Teoli J, Abbou N, Lombard C, Zerimech F, Porchet N, Chapuis Cellier C, Balduyck M, Joly P.

Orphanet J Rare Dis. 2018 Sep 17;13(1):161. doi: 10.1186/s13023-018-0897-0.

18.

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. doi: 10.11613/BM.2014.032. Epub 2014 Jun 15.

19.
20.

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. doi: 10.1002/humu.20857.

PMID:
19021233

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