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Items: 1 to 20 of 156

1.

Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.

Chan OT, Westover KD, Dietz L, Zehnder JL, Schrijver I.

Am J Clin Pathol. 2010 May;133(5):700-7. doi: 10.1309/AJCP7HQ2KWGHECIO.

PMID:
20395516
2.

Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC.

Su YN, Lee CN, Hung CC, Chen CA, Cheng WF, Tsao PN, Yu CL, Hsieh FJ.

Hum Mutat. 2003 Oct;22(4):326-36.

PMID:
12955718
3.
4.

Mutational spectrum of delta-globin gene in the Portuguese population.

Morgado A, Picanço I, Gomes S, Miranda A, Coucelo M, Seuanes F, Seixas MT, Romão L, Faustino P.

Eur J Haematol. 2007 Nov;79(5):422-8. Epub 2007 Oct 4.

PMID:
17916081
5.
6.

Characterization of a novel deletion causing beta-thalassemia major in an Afghan family.

Gallienne AE, Iberson NM, Dréau HM, Jackson H, Bignell PA, Old JM, Schuh A, Henderson SJ.

Hemoglobin. 2010;34(1):110-4. doi: 10.3109/03630260903554803.

PMID:
20113295
7.

Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles.

Colosimo A, Guida V, De Luca A, Cappabianca MP, Bianco I, Palka G, Dallapiccola B.

Hum Mutat. 2002 Mar;19(3):287-95.

PMID:
11857746
8.

Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations.

Thongnoppakhun W, Jiemsup S, Yongkiettrakul S, Kanjanakorn C, Limwongse C, Wilairat P, Vanasant A, Rungroj N, Yenchitsomanus PT.

J Mol Diagn. 2009 Jul;11(4):334-46. doi: 10.2353/jmoldx.2009.080151. Epub 2009 May 21.

9.

Misdiagnosis of a beta-thalassemia heterozygote using a reverse dot-blot method may be caused by a polymorphic locus in the wild type sequence of the beta-globin gene.

Yi P, Guo J, Chen Z, Liu Q, Yu L, Xie H, Yan Y, Zhong X, Li L.

Hemoglobin. 2010 Jan;34(2):191-5. doi: 10.3109/03630261003680415.

PMID:
20353358
10.

Spatially addressable bead-based biosensor for rapid detection of beta-thalassemia mutations.

Ng JK, Wang W, Liu WT, Chong SS.

Anal Chim Acta. 2010 Jan 25;658(2):193-6. doi: 10.1016/j.aca.2009.11.020. Epub 2009 Nov 18.

PMID:
20103094
11.

A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms.

Ghanem N, Girodon E, Vidaud M, Martin J, Fanen P, Plassa F, Goossens M.

Hum Mutat. 1992;1(3):229-39.

PMID:
1301930
12.

Comprehensive spectrum of the β-Thalassemia mutations in Khuzestan, southwest Iran.

Galehdari H, Salehi B, Azmoun S, Keikhaei B, Zandian KM, Pedram M.

Hemoglobin. 2010;34(5):461-8. doi: 10.3109/03630269.2010.514153.

PMID:
20854120
13.

A novel β-globin gene mutation HBB.c.22 G>C produces a hemoglobin variant (Hb Vellore) mimicking HbS in HPLC.

Edison ES, Sathya M, Rajkumar SV, Nair SC, Srivastava A, Shaji RV.

Int J Lab Hematol. 2012 Oct;34(5):556-8. doi: 10.1111/j.1751-553X.2012.01418.x. Epub 2012 Apr 4.

PMID:
22471768
14.

beta-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays.

van Moorsel CH, van Wijngaarden EE, Fokkema IF, den Dunnen JT, Roos D, van Zwieten R, Giordano PC, Harteveld CL.

Eur J Hum Genet. 2004 Jul;12(7):567-73.

15.

Molecular defects in the beta-globin gene identified in different ethnic groups/populations during prenatal diagnosis for beta-thalassemia: a Malaysian experience.

Tan JA, George E, Tan KL, Chow T, Tan PC, Hassan J, Chia P, Subramanium R, Chandran R, Yap SF.

Clin Exp Med. 2004 Dec;4(3):142-7.

PMID:
15599663
16.

Experience with multiplex ARMS (MARMS)-PCR for the detection of common β-thalassemia mutations in India.

Mahadik CT.

Cardiovasc Hematol Agents Med Chem. 2012 Mar 1;10(1):14-24.

PMID:
22239493
17.

Molecular analysis of β-thalassemia patients: first identification of mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil.

Fernandes AC, Shimmoto MM, Furuzawa GK, Vicari P, Figueiredo MS.

Hemoglobin. 2011;35(4):358-66. doi: 10.3109/03630269.2011.588354.

PMID:
21797703
18.

Genotyping of β-globin gene mutations in single lymphocytes: a preliminary study for preimplantation genetic diagnosis of monogenic disorders.

Durmaz B, Ozkinay F, Onay H, Karaca E, Aydinok Y, Tavmergen E, Vrettou C, Traeger-Synodinos J, Kanavakis E.

Hemoglobin. 2012;36(3):230-43. doi: 10.3109/03630269.2012.675891. Epub 2012 Apr 23.

PMID:
22524255
19.

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
20.

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