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Items: 1 to 20 of 102

1.

Development of single-strand conformational polymorphism to screen for mutations in hotspot regions of beta-globin gene of beta-thalassemia patients of Sri Lanka.

Dassanayake RS, Mahadevan K, Gunawardene YI.

Southeast Asian J Trop Med Public Health. 2013 Jan;44(1):114-23.

PMID:
23682446
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A multi-center study in order to further define the molecular basis of beta-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction.

Old JM, Khan SN, Verma I, Fucharoen S, Kleanthous M, Ioannou P, Kotea N, Fisher C, Riazuddin S, Saxena R, Winichagoon P, Kyriacou K, Al-Quobaili F, Khan B.

Hemoglobin. 2001 Nov;25(4):397-407.

PMID:
11791873
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7.

[A study on gene mutation spectrums of α- and β-thalassemias in populations of Yunnan Province and the prenatal gene diagnosis].

Zhu BS, He J, Zhang J, Zeng XH, Su J, Xu XH, Li SY, Chen H, Zhang YH.

Zhonghua Fu Chan Ke Za Zhi. 2012 Feb;47(2):85-9. Chinese.

PMID:
22455737
8.

Identification of the four most common beta-globin gene mutations in Greek beta-thalassemic patients and carriers by PCR-SSCP: advantages and limitations of the method.

Kakavas KV, Noulas A, Chalkias C, Hadjichristodoulou C, Georgiou I, Georgatsou E, Bonanou S.

J Clin Lab Anal. 2006;20(1):1-7.

PMID:
16470532
9.

Prenatal diagnosis of beta-thalassemic mutations in Chinese by multiple restriction fragment-single strand conformation polymorphism analysis.

Lee HH, Chang JG, Chen RT, Yang ML, Choo KB.

Proc Natl Sci Counc Repub China B. 1994 Jul;18(3):112-7.

PMID:
7972544
10.

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
11.

Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia.

Lam KW, Jiang P, Liao GJ, Chan KC, Leung TY, Chiu RW, Lo YM.

Clin Chem. 2012 Oct;58(10):1467-75. Epub 2012 Aug 15.

12.

Preimplantation genetic diagnosis for beta-thalassemia using single-cell DNA analysis for codons 17 and 26 of beta-globin gene.

Nasri NW, Jamal AR, Abdullah NC, Razi ZR, Mokhtar NM.

Arch Med Res. 2009 Jan;40(1):1-9. doi: 10.1016/j.arcmed.2008.10.008.

PMID:
19064120
13.

Accurate and rapid prenatal diagnosis of the most frequent East Mediterranean beta-thalassemia mutations.

Naja RP, Kaspar H, Shbaklo H, Chakar N, Makhoul NJ, Zalloua PA.

Am J Hematol. 2004 Apr;75(4):220-4.

14.

Beta-thalassemia.

Cao A, Galanello R.

Genet Med. 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. Review.

PMID:
20098328
15.

Prenatal diagnosis of beta-thalassemia major by high-performance liquid chromatography analysis of hemoglobins in fetal blood samples.

Sanguansermsri T, Thanarattanakorn P, Steger HF, Tongsong T, Chanprapaph P, Wanpirak C, Siriwatanapa P, Sirichotiyakul S, Flatz G.

Hemoglobin. 2001 Feb;25(1):19-27.

PMID:
11300346
16.

β-Thalassemia mutations found during 1 year of prenatal diagnoses in Fars Province, Iran.

Rahiminejad MS, Zeinali S, Afrasiabi A, Valeshabad AK.

Hemoglobin. 2011;35(4):331-7. doi: 10.3109/03630269.2011.601385.

PMID:
21797700
17.

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
18.

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.

19.

Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia.

Papasavva T, Kalakoutis G, Kalikas I, Neokli E, Papacharalambous S, Kyrri A, Kleanthous M.

Ann N Y Acad Sci. 2006 Sep;1075:148-53.

PMID:
17108205
20.

Analysis of β/α globin ratio by using relative qRT-PCR for diagnosis of beta-thalassemia carriers.

Ranjbaran R, Okhovat MA, Mobarhanfard A, Aboualizadeh F, Abbasi M, Moezzi L, Golafshan HA, Behzad-Behbahani A, Bagheri M, Sharifzadeh S.

J Clin Lab Anal. 2013 Jul;27(4):267-71. doi: 10.1002/jcla.21594.

PMID:
23852782

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