Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 156

1.

Systematic use of automated fluorescence-based sequence analysis of amplified genomic DNA for rapid detection of point mutations.

Tamary H, Surrey S, Kirschmann H, Shalmon L, Zaizov R, Schwartz E, Rappaport EF.

Am J Hematol. 1994 Jun;46(2):127-33.

PMID:
8172179
2.
3.

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
4.

Mutation detection using automated fluorescence-based sequencing.

Montgomery KT, Iartchouck O, Li L, Perera A, Yassin Y, Tamburino A, Loomis S, Kucherlapati R.

Curr Protoc Hum Genet. 2008 Apr;Chapter 7:Unit7.9. doi: 10.1002/0471142905.hg0709s57.

PMID:
18428426
5.

Analysis of beta-thalassemia mutations in northern Thailand using an automated fluorescence DNA sequencing technique.

Sirichotiyakul S, Saetung R, Sanguansermsri T.

Hemoglobin. 2003 May;27(2):89-95.

PMID:
12779270
6.

Multiplex minisequencing screen for common Southeast Asian and Indian beta-thalassemia mutations.

Wang W, Kham SK, Yeo GH, Quah TC, Chong SS.

Clin Chem. 2003 Feb;49(2):209-18.

7.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
8.

Rapid detection of single nucleotide deletions: application to the beta 6 (-A) mutation of the beta-globin gene and to cystic fibrosis.

Romey MC, Aguilar-Martinez P, Demaille J, Claustres M.

Hum Genet. 1993 Dec;92(6):627-8.

PMID:
8262525
9.
10.

Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism.

Jorge SB, Melo MB, Costa FF, Sonati MF.

Braz J Med Biol Res. 2003 Nov;36(11):1471-4. Epub 2003 Oct 22.

11.

Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis.

Shaji RV, Edison ES, Poonkuzhali B, Srivastava A, Chandy M.

Clin Chem. 2003 May;49(5):777-81.

12.

Fluorescence-based DNA minisequence analysis for detection of known single-base changes in genomic DNA.

Kobayashi M, Rappaport E, Blasband A, Semeraro A, Sartore M, Surrey S, Fortina P.

Mol Cell Probes. 1995 Jun;9(3):175-82.

PMID:
7477010
13.

Rapid detection of beta-Thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: a step in disease control.

Hussein G, Fawzy M, Serafi TE, Ismail EF, Metwally DE, Saber MA, Giansily M, Schved JF, Pissard S, Martinez PA.

Hemoglobin. 2007;31(1):49-62.

PMID:
17365005
14.

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.

16.

Identification of beta-globin gene mutations in Thailand using an automated fluorescence-based DNA sequencer.

Sangkitporn SK, Eksiri L, Sangnoi A, Duangruang S, Dumbua A, Rattanakittisophon K, Sangkitporn S.

Int J Lab Hematol. 2009 Oct;31(5):521-7. doi: 10.1111/j.1751-553X.2008.01072.x. Epub 2008 May 21.

PMID:
18498386
17.

Beta thalassaemia in the indigenous British population.

Hall GW, Barnetson RA, Thein SL.

Br J Haematol. 1992 Nov;82(3):584-8.

PMID:
1486039
18.

Diversity of beta-globin mutations in Israeli ethnic groups reflects recent historic events.

Filon D, Oron V, Krichevski S, Shaag A, Shaag Y, Warren TC, Goldfarb A, Shneor Y, Koren A, Aker M, et al.

Am J Hum Genet. 1994 May;54(5):836-43.

20.

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
Items per page

Supplemental Content

Write to the Help Desk