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Items: 1 to 20 of 148

1.

Molecular basis of β-thalassemia in Karnataka, India.

Kulkarni GD, Kulkarni SS, Kadakol GS, Kulkarni BB, Kyamangoudar PH, Lakkakula BV, Thangaraj K, Shepur TA, Kulkarni ML, Gai PB.

Genet Test Mol Biomarkers. 2012 Feb;16(2):138-41. doi: 10.1089/gtmb.2011.0035. Epub 2011 Oct 6.

PMID:
21978377
3.

Molecular basis of β-thalassemia in the western province of Saudi Arabia: identification of rare β-thalassemia mutations.

Abuzenadah AM, Hussein IM, Damanhouri GA, A-Sayes FM, Gari MA, Chaudhary AG, Zaher GF, Al-Attas A, Al-Qahtani MH.

Hemoglobin. 2011;35(4):346-57. doi: 10.3109/03630269.2011.588508.

PMID:
21797702
4.

Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.

Bashyam MD, Bashyam L, Savithri GR, Gopikrishna M, Sangal V, Devi AR.

J Hum Genet. 2004;49(8):408-13. Epub 2004 Jul 24.

PMID:
15278762
5.
6.

A novel 26 bp deletion [HBB: c.20_45del26bp] in exon 1 of the β-globin gene causing β-thalassemia major.

Edison ES, Venkatesan RS, Govindanattar SD, George B, Shaji RV.

Hemoglobin. 2012;36(1):98-102. doi: 10.3109/03630269.2011.641135.

PMID:
22233277
7.

The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population.

Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L.

Eur J Med Genet. 2016 Aug;59(8):355-62. doi: 10.1016/j.ejmg.2016.05.016. Epub 2016 Jun 1.

PMID:
27263053
8.

A comprehensive molecular characterization of beta thalassemia in a highly heterogeneous population.

Akhavan-Niaki H, Derakhshandeh-Peykar P, Banihashemi A, Mostafazadeh A, Asghari B, Ahmadifard MR, Azizi M, Youssefi A, Elmi MM.

Blood Cells Mol Dis. 2011 Jun 15;47(1):29-32. doi: 10.1016/j.bcmd.2011.03.005. Epub 2011 Apr 13.

PMID:
21493114
9.

Identification of Two Novel β-Thalassemia Mutations (HBB: c.335-346del and HBB: c.108 C > G) in Han Chinese.

Wang W, Wang Q, Tao T, Sun A, Ruan C, Chen S.

Hemoglobin. 2015;39(5):359-61. doi: 10.3109/03630269.2015.1049703. Epub 2015 Jun 22.

PMID:
26096710
10.

First report on the co-inheritance of beta-globin IVS-I-5 (G-->C) thalassemia with delta globin CD12 {Asn-->Lys (AAT-->AAA)}HbA₂-NYU in Iran.

Amirian A, Karimipoor M, Jafarinejad M, Taghavi M, Kordafshari A, Fathi Azar S, Mohammadi MS, Zeinali S.

Arch Iran Med. 2011 Jan;14(1):8-11. doi: 011141/AIM.003.

11.

Analyzing 5'HS3 and 5'HS4 LCR core regions and NF-E2 in Iranian thalassemia intermedia patients with normal or carrier status for beta-globin mutations.

Neishabury M, Azarkeivan A, Oberkanins C, Abedini SS, Zamani S, Najmabadi H.

Blood Cells Mol Dis. 2011 Mar 15;46(3):201-5. doi: 10.1016/j.bcmd.2010.12.007. Epub 2011 Jan 12.

PMID:
21232998
12.

Two novel mutations in the 3' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia.

Bilgen T, Clark OA, Ozturk Z, Akif Yesilipek M, Keser I.

Int J Lab Hematol. 2013 Feb;35(1):26-30. doi: 10.1111/j.1751-553X.2012.01456.x. Epub 2012 Aug 2.

PMID:
22862814
13.

A Novel Mutation in the Promoter Region of the β-Globin Gene: HBB: c.-127G > C.

Bilgen T, Canatan D, Delibas S, Keser I.

Hemoglobin. 2016 Aug;40(4):280-2. doi: 10.1080/03630269.2016.1193513. Epub 2016 Jun 28.

PMID:
27349616
15.

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
16.

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
17.

A novel promoter mutation (HBB: c.-75G>T) was identified as a cause of β(+)-thalassemia.

Li Z, Li L, Yao Y, Li N, Li Y, Zhang Z, Yan F, Qiu H, Wu C, Zhang Z.

Hemoglobin. 2015;39(2):115-20. doi: 10.3109/03630269.2014.1002844. Epub 2015 Feb 6.

PMID:
25657036
18.

The spectrum of beta-thalassemia mutations in southern Thailand.

Nopparatana C, Panich V, Saechan V, Sriroongrueng V, Nopparatana C, Rungjeadpha J, Pornpatkul M, Laosombat V, Fukumaki Y.

Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:229-34.

PMID:
8629112
19.

[A novel mutation in β-globin gene of a patient with β-thalassemia].

Peng YS, Sun SC, Chen QR, Wang Q, Mo BM.

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Apr;20(2):398-400. Chinese.

PMID:
22541107
20.

Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients.

Al-Nafie AN, Borgio JF, AbdulAzeez S, Al-Suliman AM, Qaw FS, Naserullah ZA, Al-Jarrash S, Al-Madan MS, Al-Ali RA, AlKhalifah MA, Al-Muhanna F, Steinberg MH, Al-Ali AK.

Blood Cells Mol Dis. 2015 Jun;55(1):27-9. doi: 10.1016/j.bcmd.2015.03.008. Epub 2015 Mar 30.

PMID:
25976463

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