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Items: 1 to 20 of 162

1.

A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.

North TL, Ben-Shlomo Y, Cooper C, Deary IJ, Gallacher J, Kivimaki M, Kumari M, Martin RM, Pattie A, Sayer AA, Starr JM, Wong A, Kuh D, Rodriguez S, Day IN.

J Med Genet. 2016 Apr;53(4):280-8. doi: 10.1136/jmedgenet-2015-103342. Epub 2016 Feb 1.

2.

Alpha-1 Antitrypsin PiMZ Genotype Is Associated with Chronic Obstructive Pulmonary Disease in Two Racial Groups.

Foreman MG, Wilson C, DeMeo DL, Hersh CP, Beaty TH, Cho MH, Ziniti J, Curran-Everett D, Criner G, Hokanson JE, Brantly M, Rouhani FN, Sandhaus RA, Crapo JD, Silverman EK; Genetic Epidemiology of COPD (COPDGene) Investigators * .

Ann Am Thorac Soc. 2017 Aug;14(8):1280-1287. doi: 10.1513/AnnalsATS.201611-838OC.

3.

α₁-Antitrypsin protease inhibitor MZ heterozygosity is associated with airflow obstruction in two large cohorts.

Sørheim IC, Bakke P, Gulsvik A, Pillai SG, Johannessen A, Gaarder PI, Campbell EJ, Agustí A, Calverley PM, Donner CF, Make BJ, Rennard SI, Vestbo J, Wouters EF, Paré PD, Levy RD, Coxson HO, Lomas DA, Hersh CP, Silverman EK.

Chest. 2010 Nov;138(5):1125-32. doi: 10.1378/chest.10-0746. Epub 2010 Jul 1.

4.

Prevalence of alpha-1 antitrypsin high-risk variants in Mexican mestizo population and their association with lung function values.

Pérez-Rubio G, Jiménez-Valverde LO, Ramírez-Venegas A, Camarena Á, Sansores RH, Flores-Trujillo F, Reséndiz-Hernández JM, Falfán-Valencia R.

Arch Bronconeumol. 2015 Feb;51(2):80-85. doi: 10.1016/j.arbres.2014.09.010. Epub 2014 Nov 7. English, Spanish.

5.

SERPINA1 PiZ and PiS heterozygotes and lung function decline in the SAPALDIA cohort.

Thun GA, Ferrarotti I, Imboden M, Rochat T, Gerbase M, Kronenberg F, Bridevaux PO, Zemp E, Zorzetto M, Ottaviani S, Russi EW, Luisetti M, Probst-Hensch NM.

PLoS One. 2012;7(8):e42728. doi: 10.1371/journal.pone.0042728. Epub 2012 Aug 13.

6.

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.

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.
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.

Linkage analysis of alpha 1-antitrypsin deficiency: lessons for complex diseases.

Silverman EK, Mosley JD, Rao DC, Palmer LJ, Province MA, Elston RC, Weiss ST, Campbell EJ.

Hum Hered. 2001;52(4):223-32.

PMID:
11713419
11.

IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency.

Demeo DL, Campbell EJ, Barker AF, Brantly ML, Eden E, McElvaney NG, Rennard SI, Sandhaus RA, Stocks JM, Stoller JK, Strange C, Turino G, Silverman EK.

Am J Respir Cell Mol Biol. 2008 Jan;38(1):114-20. Epub 2007 Aug 9.

12.

Estimated numbers and prevalence of PI*S and PI*Z deficiency alleles of alpha1-antitrypsin deficiency in Asia.

de Serres FJ, Blanco I, Fernández-Bustillo E.

Eur Respir J. 2006 Dec;28(6):1091-9. Epub 2006 Sep 27.

13.

Clarification of the risk of chronic obstructive pulmonary disease in α1-antitrypsin deficiency PiMZ heterozygotes.

Molloy K, Hersh CP, Morris VB, Carroll TP, O'Connor CA, Lasky-Su JA, Greene CM, O'Neill SJ, Silverman EK, McElvaney NG.

Am J Respir Crit Care Med. 2014 Feb 15;189(4):419-27. doi: 10.1164/rccm.201311-1984OC.

14.

Alpha-1 antitrypsin deficiency: From the lung to the heart?

Curjuric I, Imboden M, Bettschart R, Caviezel S, Dratva J, Pons M, Rothe T, Schmidt-Trucksäss A, Stolz D, Thun GA, von Eckardstein A, Kronenberg F, Ferrarotti I, Probst-Hensch NM.

Atherosclerosis. 2018 Mar;270:166-172. doi: 10.1016/j.atherosclerosis.2018.01.042. Epub 2018 Jan 31.

PMID:
29432934
15.

Heterozygous alpha 1-antitrypsin deficiency: a longitudinal lung function study.

de Hamel FA, Carrell RW.

N Z Med J. 1981 Dec 9;94(697):407-10.

PMID:
6977750
16.

Rapid screening for alpha1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood specimens.

Rodriguez F, Jardí R, Costa X, Cotrina M, Galimany R, Vidal R, Miravitlles M.

Am J Respir Crit Care Med. 2002 Sep 15;166(6):814-7.

PMID:
12231490
17.
18.

SERPINA1 11478G→A variant, serum α1-antitrypsin, exacerbation frequency and FEV1 decline in COPD.

Quint JK, Donaldson GC, Kumari M, Talmud PJ, Hurst JR.

Thorax. 2011 May;66(5):418-24. doi: 10.1136/thx.2010.152975. Epub 2011 Feb 18.

PMID:
21335450
19.

Chronic obstructive pulmonary disease in alpha1-antitrypsin PI MZ heterozygotes: a meta-analysis.

Hersh CP, Dahl M, Ly NP, Berkey CS, Nordestgaard BG, Silverman EK.

Thorax. 2004 Oct;59(10):843-9. Review.

20.

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