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Items: 1 to 20 of 171

1.

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. doi: 10.1007/s10528-013-9597-6. Epub 2013 May 11.

PMID:
23666394
2.

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. doi: 10.1007/s12033-010-9246-9.

PMID:
20108056
3.

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
4.

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 7;10:130. doi: 10.1186/s13023-015-0350-6.

5.

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.

6.

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.

7.

Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report.

Denden S, Zorzetto M, Amri F, Knani J, Ottaviani S, Scabini R, Gorrini M, Ferrarotti I, Campo I, Chibani JB, Khelil AH, Luisetti M.

Orphanet J Rare Dis. 2009 Apr 15;4:12. doi: 10.1186/1750-1172-4-12.

8.

Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan.

Seyama K, Nukiwa T, Souma S, Shimizu K, Kira S.

Am J Respir Crit Care Med. 1995 Dec;152(6 Pt 1):2119-26.

PMID:
8520784
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. doi: 10.1007/5584_2016_213.

PMID:
26987331
10.

In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin.

Fraizer GC, Harrold TR, Hofker MH, Cox DW.

Am J Hum Genet. 1989 Jun;44(6):894-902.

11.

Rare alpha-1-antitrypsin variants: are they really so rare?

Rodriguez-Frias F, Miravitlles M, Vidal R, Camos S, Jardi R.

Ther Adv Respir Dis. 2012 Apr;6(2):79-85. doi: 10.1177/1753465811434320. Epub 2012 Jan 30.

PMID:
22291048
12.

Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay.

Lucotte G, Sesboüé R.

Mol Cell Probes. 1999 Oct;13(5):389-91.

PMID:
10508561
13.

Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton.

Curiel DT, Holmes MD, Okayama H, Brantly ML, Vogelmeier C, Travis WD, Stier LE, Perks WH, Crystal RG.

J Biol Chem. 1989 Aug 15;264(23):13938-45.

14.
16.

A fast amplification-reverse hybridization assay kit to detect the most frequent deficient variants in the alpha-1-antitrypsin gene.

Zorzetto M, Tamburnotti C, Maschietto B, Massi G, Battaggia C, Medaglia S, Luisetti M.

Respiration. 2002;69(1):81-5.

PMID:
11844968
17.

Alpha-1-antitrypsin deficiency in Madeira (Portugal): the highest prevalence in the world.

Spínola C, Bruges-Armas J, Pereira C, Brehm A, Spínola H.

Respir Med. 2009 Oct;103(10):1498-502. doi: 10.1016/j.rmed.2009.04.012. Epub 2009 May 17.

18.

[The incidence of alpha-1-antitrypsin (A1AT) deficiency alleles in population of Central Poland--preliminary results from newborn screening].

Chorostowska-Wynimko J, Struniawski R, Popławska B, Borszewska-Kornacka M.

Pneumonol Alergol Pol. 2012;80(5):450-3. Polish.

19.

Rapid DNA extraction protocol for detection of alpha-1 antitrypsin deficiency from dried blood spots by real-time PCR.

Struniawski R, Szpechcinski A, Poplawska B, Skronski M, Chorostowska-Wynimko J.

Adv Exp Med Biol. 2013;756:29-37. doi: 10.1007/978-94-007-4549-0_5.

PMID:
22836616
20.

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