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Items: 1 to 20 of 139

1.

Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human α-globin gene cluster.

Kipp BR, Roellinger SE, Lundquist PA, Highsmith WE, Dawson DB.

J Mol Diagn. 2011 Sep;13(5):549-57. doi: 10.1016/j.jmoldx.2011.04.001. Epub 2011 Jun 25.

2.

Application of MLPA assay to characterize unsolved α-globin gene rearrangements.

Colosimo A, Gatta V, Guida V, Leodori E, Foglietta E, Rinaldi S, Cappabianca MP, Amato A, Stuppia L, Dallapiccola B.

Blood Cells Mol Dis. 2011 Feb 15;46(2):139-44. doi: 10.1016/j.bcmd.2010.11.006. Epub 2010 Dec 28.

PMID:
21190870
3.

Detection of α-globin gene deletion and duplication using quantitative multiplex PCR of short fluorescent fragments.

Mo ZP, Yu CS, Li YJ, Cao WX, Zeng ZY, Zhan YX, Mo GL, Hu C, Feng W.

Clin Chem Lab Med. 2011 Dec 17;50(4):649-54. doi: 10.1515/cclm.2011.833.

PMID:
22505528
4.

Development of a quantitative real-time PCR assay for detection of unknown alpha-globin gene deletions.

Fallah MS, Mahdian R, Aleyasin SA, Jamali S, Hayat-Nosaeid M, Karimipour M, Raeisi M, Zeinali S.

Blood Cells Mol Dis. 2010 Jun 15;45(1):58-64. doi: 10.1016/j.bcmd.2010.03.001. Epub 2010 Apr 2.

PMID:
20363165
5.

Simplified PGD of common determinants of haemoglobin Bart's hydrops fetalis syndrome using multiplex-microsatellite PCR.

Wang W, Yap CH, Loh SF, Tan AS, Lim MN, Prasath EB, Chan ML, Tan WC, Jiang B, Yeo GH, Mathew J, Ho A, Ho SS, Wong PC, Choolani MA, Chong SS.

Reprod Biomed Online. 2010 Nov;21(5):642-8. doi: 10.1016/j.rbmo.2010.06.021. Epub 2010 Jun 19.

PMID:
20864413
6.

Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH.

Blattner A, Brunner-Agten S, Ludin K, Hergersberg M, Herklotz R, Huber AR, Röthlisberger B.

Blood Cells Mol Dis. 2013 Jun;51(1):39-47. doi: 10.1016/j.bcmd.2013.02.002. Epub 2013 Mar 13.

PMID:
23491071
7.

Detection of unknown deletions in beta-globin gene cluster using relative quantitative PCR methods.

Babashah S, Jamali S, Mahdian R, Nosaeid MH, Karimipoor M, Alimohammadi R, Raeisi M, Maryami F, Masoudifar M, Zeinali S.

Eur J Haematol. 2009 Sep;83(3):261-9. doi: 10.1111/j.1600-0609.2009.01264.x. Epub 2009 Apr 1.

PMID:
19341428
8.

Detection and characterisation of beta-globin gene cluster deletions in Chinese using multiplex ligation-dependent probe amplification.

So CC, So AC, Chan AY, Tsang ST, Ma ES, Chan LC.

J Clin Pathol. 2009 Dec;62(12):1107-11. doi: 10.1136/jcp.2009.067538.

PMID:
19946097
9.

Characterization of two unique α-globin gene cluster deletions causing α-thalassemia in Israeli Arabs.

Gilad O, Dgany O, Noy-Lotan S, Krasnov T, Elitzur S, Pissard S, Kventsel I, Yacobovich J, Tamary H.

Hemoglobin. 2014;38(5):319-24. doi: 10.3109/03630269.2014.954668. Epub 2014 Sep 15.

PMID:
25222045
10.

A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)).

Phylipsen M, Vogelaar IP, Schaap RA, Arkesteijn SG, Boxma GL, van Helden WC, Wildschut IC, de Bruin-Roest AC, Giordano PC, Harteveld CL.

Blood Cells Mol Dis. 2010 Aug 15;45(2):133-5. doi: 10.1016/j.bcmd.2010.05.004. Epub 2010 Jun 1.

PMID:
20682466
11.

Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification.

Liu JZ, Han H, Schouten JP, Wang LR, Fan XP, Duarte HB, Zhu CJ, Cai R, Xiao B, Wang QT.

Hemoglobin. 2008;32(6):561-71. doi: 10.1080/03630260802508111.

PMID:
19065334
12.

Multiplex ligation-dependent probe amplification screening of isolated increased HbF levels revealed three cases of novel rearrangements/deletions in the beta-globin gene cluster.

Lee ST, Yoo EH, Kim JY, Kim JW, Ki CS.

Br J Haematol. 2010 Jan;148(1):154-60. doi: 10.1111/j.1365-2141.2009.07927.x. Epub 2009 Oct 5.

PMID:
19807730
13.

A rapid single-tube multiplex polymerase chain reaction assay for the seven most prevalent alpha-thalassemia deletions and alphaalphaalpha(anti 3.7) alpha-globin gene triplication.

de Mare A, Groeneger AH, Schuurman S, van den Bergh FA, Slomp J.

Hemoglobin. 2010 Jan;34(2):184-90. doi: 10.3109/03630261003670259.

PMID:
20353357
14.

Novel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment.

Coelho A, Picanço I, Seuanes F, Seixas MT, Faustino P.

Blood Cells Mol Dis. 2010 Aug 15;45(2):147-53. doi: 10.1016/j.bcmd.2010.05.010. Epub 2010 Jun 30.

PMID:
20580289
15.

[The application of multiplex ligation-dependent probe amplification technology in diagnosis and prenatal diagnosis of α-thalassemia].

Chen YJ, Yang XH, Zeng XQ, Qiao LL.

Zhonghua Xue Ye Xue Za Zhi. 2013 Jul;34(7):591-4. doi: 10.3760/cma.j.issn.0253-2727.2013.07.007. Chinese.

PMID:
23906452
16.

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.

Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC.

J Med Genet. 2005 Dec;42(12):922-31. Epub 2005 May 13.

17.

Gene mapping of Malaysian alpha thalassemias with alpha and zeta globin gene probes.

Lie-Injo LE, Herrera AR, Lebo RV, Hassan K, Lopez CG.

Am J Hematol. 1985 Mar;18(3):289-96.

PMID:
2983536
18.

[Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis].

Li H, Ding J, Wang W, Chen Y, Lu W, Shao H, Wu BL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):318-22. doi: 10.3760/cma.j.issn.1003-9406.2009.03.018. Chinese.

PMID:
19504448
19.

Detection of deletions/duplications in α-globin gene cluster by multiplex ligation-dependent probe amplification.

Nezhat N, Akbari MT.

Genet Test Mol Biomarkers. 2012 Jul;16(7):684-8. doi: 10.1089/gtmb.2011.0251. Epub 2012 Jun 25.

PMID:
22731639
20.

Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).

Lai KK, Lo IF, Tong TM, Cheng LY, Lam ST.

Clin Biochem. 2006 Apr;39(4):367-72. Epub 2006 Jan 17.

PMID:
16413013

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