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Results: 1 to 20 of 114

1.

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.

PMID:
14681476
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
24137000
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server.

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

Hum Mutat. 2002 Mar;19(3):225-33.

PMID:
11857738
[PubMed - indexed for MEDLINE]
5.

Access to a syllabus of human hemoglobin variants (1996) via the World Wide Web.

Hardison RC, Chui DH, Riemer CR, Miller W, Carver MF, Molchanova TP, Efremov GD, Huisman TH.

Hemoglobin. 1998 Mar;22(2):113-27.

PMID:
9576329
[PubMed - indexed for MEDLINE]
6.

The UCSC Genome Browser Database.

Karolchik D, Baertsch R, Diekhans M, Furey TS, Hinrichs A, Lu YT, Roskin KM, Schwartz M, Sugnet CW, Thomas DJ, Weber RJ, Haussler D, Kent WJ; University of California Santa Cruz.

Nucleic Acids Res. 2003 Jan 1;31(1):51-4.

PMID:
12519945
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

GALA, a database for genomic sequence alignments and annotations.

Giardine B, Elnitski L, Riemer C, Makalowska I, Schwartz S, Miller W, Hardison RC.

Genome Res. 2003 Apr;13(4):732-41.

PMID:
12671007
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The UCSC Genome Browser database: 2014 update.

Karolchik D, Barber GP, Casper J, Clawson H, Cline MS, Diekhans M, Dreszer TR, Fujita PA, Guruvadoo L, Haeussler M, Harte RA, Heitner S, Hinrichs AS, Learned K, Lee BT, Li CH, Raney BJ, Rhead B, Rosenbloom KR, Sloan CA, Speir ML, Zweig AS, Haussler D, Kuhn RM, Kent WJ.

Nucleic Acids Res. 2014 Jan;42(Database issue):D764-70. doi: 10.1093/nar/gkt1168. Epub 2013 Nov 21.

PMID:
24270787
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

The UCSC Genome Browser database: extensions and updates 2013.

Meyer LR, Zweig AS, Hinrichs AS, Karolchik D, Kuhn RM, Wong M, Sloan CA, Rosenbloom KR, Roe G, Rhead B, Raney BJ, Pohl A, Malladi VS, Li CH, Lee BT, Learned K, Kirkup V, Hsu F, Heitner S, Harte RA, Haeussler M, Guruvadoo L, Goldman M, Giardine BM, Fujita PA, Dreszer TR, Diekhans M, Cline MS, Clawson H, Barber GP, Haussler D, Kent WJ.

Nucleic Acids Res. 2013 Jan;41(Database issue):D64-9. doi: 10.1093/nar/gks1048. Epub 2012 Nov 15.

PMID:
23155063
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

The UCSC Genome Browser database: update 2010.

Rhead B, Karolchik D, Kuhn RM, Hinrichs AS, Zweig AS, Fujita PA, Diekhans M, Smith KE, Rosenbloom KR, Raney BJ, Pohl A, Pheasant M, Meyer LR, Learned K, Hsu F, Hillman-Jackson J, Harte RA, Giardine B, Dreszer TR, Clawson H, Barber GP, Haussler D, Kent WJ.

Nucleic Acids Res. 2010 Jan;38(Database issue):D613-9. doi: 10.1093/nar/gkp939. Epub 2009 Nov 11.

PMID:
19906737
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

The UCSC Table Browser data retrieval tool.

Karolchik D, Hinrichs AS, Furey TS, Roskin KM, Sugnet CW, Haussler D, Kent WJ.

Nucleic Acids Res. 2004 Jan 1;32(Database issue):D493-6.

PMID:
14681465
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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
[PubMed - indexed for MEDLINE]
13.

Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.

Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP.

Ann Hematol. 2009 Jun;88(6):535-43. doi: 10.1007/s00277-008-0624-3. Epub 2008 Oct 16.

PMID:
18923834
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

ENCODE whole-genome data in the UCSC Genome Browser.

Rosenbloom KR, Dreszer TR, Pheasant M, Barber GP, Meyer LR, Pohl A, Raney BJ, Wang T, Hinrichs AS, Zweig AS, Fujita PA, Learned K, Rhead B, Smith KE, Kuhn RM, Karolchik D, Haussler D, Kent WJ.

Nucleic Acids Res. 2010 Jan;38(Database issue):D620-5. doi: 10.1093/nar/gkp961. Epub 2009 Nov 17.

PMID:
19920125
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The UCSC Genome Browser Database: update 2006.

Hinrichs AS, Karolchik D, Baertsch R, Barber GP, Bejerano G, Clawson H, Diekhans M, Furey TS, Harte RA, Hsu F, Hillman-Jackson J, Kuhn RM, Pedersen JS, Pohl A, Raney BJ, Rosenbloom KR, Siepel A, Smith KE, Sugnet CW, Sultan-Qurraie A, Thomas DJ, Trumbower H, Weber RJ, Weirauch M, Zweig AS, Haussler D, Kent WJ.

Nucleic Acids Res. 2006 Jan 1;34(Database issue):D590-8.

PMID:
16381938
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software.

Zaimidou S, van Baal S, Smith TD, Mitropoulos K, Ljujic M, Radojkovic D, Cotton RG, Patrinos GP.

Hum Mutat. 2009 Mar;30(3):308-13. doi: 10.1002/humu.20857.

PMID:
19021233
[PubMed - indexed for MEDLINE]
17.

Variation resources at UC Santa Cruz.

Thomas DJ, Trumbower H, Kern AD, Rhead BL, Kuhn RM, Haussler D, Kent WJ.

Nucleic Acids Res. 2007 Jan;35(Database issue):D716-20. Epub 2006 Dec 6.

PMID:
17151077
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

The UCSC Genome Browser database: update 2011.

Fujita PA, Rhead B, Zweig AS, Hinrichs AS, Karolchik D, Cline MS, Goldman M, Barber GP, Clawson H, Coelho A, Diekhans M, Dreszer TR, Giardine BM, Harte RA, Hillman-Jackson J, Hsu F, Kirkup V, Kuhn RM, Learned K, Li CH, Meyer LR, Pohl A, Raney BJ, Rosenbloom KR, Smith KE, Haussler D, Kent WJ.

Nucleic Acids Res. 2011 Jan;39(Database issue):D876-82. doi: 10.1093/nar/gkq963. Epub 2010 Oct 18.

PMID:
20959295
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Deniz: the electronic database for beta-thalassemia mutations in the Arab world.

Tadmouri GO, Gulen RI.

Saudi Med J. 2003 Nov;24(11):1192-8.

PMID:
14647552
[PubMed - indexed for MEDLINE]
20.

Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser.

Raney BJ, Dreszer TR, Barber GP, Clawson H, Fujita PA, Wang T, Nguyen N, Paten B, Zweig AS, Karolchik D, Kent WJ.

Bioinformatics. 2014 Apr 1;30(7):1003-5. doi: 10.1093/bioinformatics/btt637. Epub 2013 Nov 13.

PMID:
24227676
[PubMed - indexed for MEDLINE]
Free PMC Article
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