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Items: 1 to 20 of 102

1.

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.

Giardine B, Borg J, Higgs DR, Peterson KR, Philipsen S, Maglott D, Singleton BK, Anstee DJ, Basak AN, Clark B, Costa FC, Faustino P, Fedosyuk H, Felice AE, Francina A, Galanello R, Gallivan MV, Georgitsi M, Gibbons RJ, Giordano PC, Harteveld CL, Hoyer JD, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis MN, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye JS, Wiemann C, Zukic B, Chui DH, Wajcman H, Hardison RC, Patrinos GP.

Nat Genet. 2011 Mar 20;43(4):295-301. doi: 10.1038/ng.785.

2.

Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain.

Patrinos GP, Cooper DN, van Mulligen E, Gkantouna V, Tzimas G, Tatum Z, Schultes E, Roos M, Mons B.

Hum Mutat. 2012 Nov;33(11):1503-12. doi: 10.1002/humu.22144. Epub 2012 Jul 23.

PMID:
22736453
3.

Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies.

Patrinos GP, Kollia P, Papadakis MN.

Hum Mutat. 2005 Nov;26(5):399-412. Review.

PMID:
16138310
4.

Updates of the HbVar database of human hemoglobin variants and thalassemia mutations.

Giardine B, Borg J, Viennas E, Pavlidis C, Moradkhani K, Joly P, Bartsakoulia M, Riemer C, Miller W, Tzimas G, Wajcman H, Hardison RC, Patrinos GP.

Nucleic Acids Res. 2014 Jan;42(Database issue):D1063-9. doi: 10.1093/nar/gkt911. Epub 2013 Oct 16.

5.

Crowdsourcing human mutations.

[No authors listed]

Nat Genet. 2011 Mar 29;43(4):279. doi: 10.1038/ng0411-279.

PMID:
21445067
7.

Diagnostic approach to hemoglobinopathies.

Kutlar F.

Hemoglobin. 2007;31(2):243-50.

PMID:
17486507
8.

Molecular genetics of human hemoglobin synthesis.

Forget BG.

Ann Intern Med. 1979 Oct;91(4):605-16. Review.

PMID:
384860
9.

[Structure of the globin genes in persons with anomalous hemoglobins].

Kavsan VM.

Tsitol Genet. 1982 Mar-Apr;16(2):62-72. Review. Russian. No abstract available.

PMID:
6179278
10.

Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies.

Patrinos GP, Giardine B, Riemer C, Miller W, Chui DH, Anagnou NP, Wajcman H, Hardison RC.

Nucleic Acids Res. 2004 Jan 1;32(Database issue):D537-41.

11.

Prevalence and molecular characterization of structural hemoglobin variants in the Dongguan region of Guangdong province, southern China.

Lou JW, Wang T, Liu YH, He Y, Zhong BM, Liu JX, Zhao Y, Ye WL, Li DZ.

Hemoglobin. 2014;38(4):282-6. doi: 10.3109/03630269.2014.928779. Epub 2014 Jul 2.

PMID:
24985555
12.
13.

Sardinian G gamma-HPFH: a T----C substitution in a conserved "octamer" sequence in the G gamma-globin promoter.

Ottolenghi S, Nicolis S, Taramelli R, Malgaretti N, Mantovani R, Comi P, Giglioni B, Longinotti M, Dore F, Oggiano L, et al.

Blood. 1988 Mar;71(3):815-7.

14.

The impact of molecular biology on the diagnosis and treatment of hemoglobin disorders.

Berg PE, Schechter AN.

Mol Genet Med. 1992;2:1-38. Review. No abstract available.

PMID:
1458221
15.

Prenatal diagnosis of hemoglobinopathies by DNA analysis.

Boehm C, Kazazian HH Jr.

Crit Rev Oncol Hematol. 1985;4(2):155-67. Review.

PMID:
2998637
16.

Molecular biologic diagnosis of the hemoglobinopathies.

Schwartz E, Surrey S.

Hosp Pract (Off Ed). 1986 Sep 15;21(9):163-78. No abstract available.

PMID:
3091617
17.

[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies].

Aguilar-Martinez P, Badens C, Bonello-Palot N, Cadet E, Couque N, Ducrocq R, Elion J, Francina A, Joly P, Pissard S, Rochette J; Réseay DHOS Pathologie héréditaire de l'érythrocyte.

Ann Biol Clin (Paris). 2010 Jul-Aug;68(4):455-64. doi: 10.1684/abc.2010.0457. French.

18.

Automated analysis of hemoglobin variants using nanoLC-MS and customized databases.

Das R, Mitra G, Mathew B, Ross C, Bhat V, Mandal AK.

J Proteome Res. 2013 Jul 5;12(7):3215-22. doi: 10.1021/pr4000625. Epub 2013 Jun 6.

PMID:
23692286
19.

Rare hemoglobin variants in Tunisian population.

Zorai A, Moumni I, Mosbahi I, Douzi K, Chaouachi D, Guemira F, Abbes S.

Int J Lab Hematol. 2015 Apr;37(2):148-54. doi: 10.1111/ijlh.12259. Epub 2014 Jun 6. Review.

PMID:
24905386
20.

HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.

Giardine B, van Baal S, Kaimakis P, Riemer C, Miller W, Samara M, Kollia P, Anagnou NP, Chui DH, Wajcman H, Hardison RC, Patrinos GP.

Hum Mutat. 2007 Feb;28(2):206.

PMID:
17221864

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