PUB - Publikationen an der Universität Bielefeld

Rolling circle amplification for scoring single nucleotide polymorphisms.
Rosler A, Bailey L, Jones S, Briggs J, Cuss S, Horsey I, Kenrick M, Kingsmore S, Kent L, Pickering J, Knott T, Shipstone E, Scozzafava G., Nucleosides Nucleotides Nucleic Acids 20(4-7), 2001
PMID: 11563139

Singleton SNPs in the human genome and implications for genome-wide association studies.
Ke X, Taylor MS, Cardon LR., Eur. J. Hum. Genet. 16(4), 2008
PMID: 18197193

A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin.
INGRAM VM., Nature 178(4537), 1956
PMID: 13369537

beta 0 thalassemia, a nonsense mutation in man.
Chang JC, Kan YW., Proc. Natl. Acad. Sci. U.S.A. 76(6), 1979
PMID: 88735

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.
Hamosh A, King TM, Rosenstein BJ, Corey M, Levison H, Durie P, Tsui LC, McIntosh I, Keston M, Brock DJ., Am. J. Hum. Genet. 51(2), 1992
PMID: 1379413

Clinical relevance of genetic polymorphisms in the human CYP2C subfamily.
Goldstein JA., Br J Clin Pharmacol 52(4), 2001
PMID: 11678778

CYP2C9 genotype as a predictor of drug disposition in humans.
Lee CR., Methods Find Exp Clin Pharmacol 26(6), 2004
PMID: 15349140

Functional SNPs of the breast cancer resistance protein-therapeutic effects and inhibitor development.
Yanase K, Tsukahara S, Mitsuhashi J, Sugimoto Y., Cancer Lett. 234(1), 2005
PMID: 16303243

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.
Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA., Nucleic Acids Res. 33(Database issue), 2005
PMID: 15608251

JSNP: a database of common gene variations in the Japanese population.
Hirakawa M, Tanaka T, Hashimoto Y, Kuroda M, Takagi T, Nakamura Y., Nucleic Acids Res. 30(1), 2002
PMID: 11752280

Discovery of protein-protein interactions using a combination of linguistic, statistical and graphical information.
Cooper JW, Kershenbaum A., BMC Bioinformatics 6(), 2005
PMID: 15941473

dbSNP: the NCBI database of genetic variation.
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K., Nucleic Acids Res. 29(1), 2001
PMID: 11125122

Entrez Gene: gene-centered information at NCBI.
Maglott D, Ostell J, Pruitt KD, Tatusova T., Nucleic Acids Res. 33(Database issue), 2005
PMID: 15608257

GenBank.
Benson DA, Karsch-Mizrachi I, Lipman DJ, Ostell J, Wheeler DL., Nucleic Acids Res. 36(Database issue), 2007
PMID: 18073190

The Universal Protein Resource (UniProt) in 2010
AUTHOR UNKNOWN, 2009

A haplotype map of the human genome.
International HapMap Consortium., Nature 437(7063), 2005
PMID: 16255080

Ensembl 2008.
Flicek P, Aken BL, Beal K, Ballester B, Caccamo M, Chen Y, Clarke L, Coates G, Cunningham F, Cutts T, Down T, Dyer SC, Eyre T, Fitzgerald S, Fernandez-Banet J, Graf S, Haider S, Hammond M, Holland R, Howe KL, Howe K, Johnson N, Jenkinson A, Kahari A, Keefe D, Kokocinski F, Kulesha E, Lawson D, Longden I, Megy K, Meidl P, Overduin B, Parker A, Pritchard B, Prlic A, Rice S, Rios D, Schuster M, Sealy I, Slater G, Smedley D, Spudich G, Trevanion S, Vilella AJ, Vogel J, White S, Wood M, Birney E, Cox T, Curwen V, Durbin R, Fernandez-Suarez XM, Herrero J, Hubbard TJ, Kasprzyk A, Proctor G, Smith J, Ureta-Vidal A, Searle S., Nucleic Acids Res. 36(Database issue), 2007
PMID: 18000006

SNPedia
AUTHOR UNKNOWN, 0

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array.
Matsuzaki H, Loi H, Dong S, Tsai YY, Fang J, Law J, Di X, Liu WM, Yang G, Liu G, Huang J, Kennedy GC, Ryder TB, Marcus GA, Walsh PS, Shriver MD, Puck JM, Jones KW, Mei R., Genome Res. 14(3), 2004
PMID: 14993208

Large-scale genotyping by mass spectrometry: experience, advances and obstacles.
Lechner D, Lathrop GM, Gut IG., Curr Opin Chem Biol 6(1), 2002
PMID: 11827820

The use of mass spectrometry in genomics.
Meng Z, Simmons-Willis TA, Limbach PA., Biomol. Eng. 21(1), 2004
PMID: 14715314

Genome sequencing in microfabricated high-density picolitre reactors.
Margulies M, Egholm M, Altman WE, Attiya S, Bader JS, Bemben LA, Berka J, Braverman MS, Chen YJ, Chen Z, Dewell SB, Du L, Fierro JM, Gomes XV, Godwin BC, He W, Helgesen S, Ho CH, Ho CH, Irzyk GP, Jando SC, Alenquer ML, Jarvie TP, Jirage KB, Kim JB, Knight JR, Lanza JR, Leamon JH, Lefkowitz SM, Lei M, Li J, Lohman KL, Lu H, Makhijani VB, McDade KE, McKenna MP, Myers EW, Nickerson E, Nobile JR, Plant R, Puc BP, Ronan MT, Roth GT, Sarkis GJ, Simons JF, Simpson JW, Srinivasan M, Tartaro KR, Tomasz A, Vogt KA, Volkmer GA, Wang SH, Wang Y, Weiner MP, Yu P, Begley RF, Rothberg JM., Nature 437(7057), 2005
PMID: 16056220

Toward the 1,000 dollars human genome.
Bennett ST, Barnes C, Cox A, Davies L, Brown C., Pharmacogenomics 6(4), 2005
PMID: 16004555

Hemoglobin Crete (beta 129 ala leads to pro): a new high-affinity variant interacting with beta o -and delta beta o -thalassemia.
Maniatis A, Bousios T, Nagel RL, Balazs T, Ueda Y, Bookchin RM, Maniatis GM., Blood 54(1), 1979
PMID: 36184

Haemoglobin J Guantanamo (alpha 2 beta 2 128 (H6) Ala replaced by Asp). A new fast unstable haemoglobin found in a Cuban family.
Martinez G, Lima F, Colombo B., Biochim. Biophys. Acta 491(1), 1977
PMID: 849451

Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.
Attree O, Vidaud D, Vidaud M, Amselem S, Lavergne JM, Goossens M., Genomics 4(3), 1989
PMID: 2714791

Mutation of antitrypsin to antithrombin. alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder.
Owen MC, Brennan SO, Lewis JH, Carrell RW., N. Engl. J. Med. 309(12), 1983
PMID: 6604220

Automatic extraction of mutations from Medline and cross-validation with OMIM.
Rebholz-Schuhmann D, Marcel S, Albert S, Tolle R, Casari G, Kirsch H., Nucleic Acids Res. 32(1), 2004
PMID: 14704350

Endothelial nitric oxide synthase Glu(298)-->Asp polymorphism, carotid atherosclerosis and intima-media thickness in a general population sample.
Wolff B, Braun C, Schluter C, Grabe HJ, Popowski K, Volzke H, Ludemann J, John U, Cascorbi I., Clin. Sci. 109(5), 2005
PMID: 16060860

A suggested nomenclature for designating mutations.
Beaudet AL, Tsui LC., Hum. Mutat. 2(4), 1993
PMID: 8401532

Update on nomenclature for human gene mutations. Ad Hoc Committee on Mutation Nomenclature.
AUTHOR UNKNOWN, Hum. Mutat. 8(3), 1996
PMID: 8889576

Automated extraction of mutation data from the literature: application of MuteXt to G protein-coupled receptors and nuclear hormone receptors.
Horn F, Lau AL, Cohen FE., Bioinformatics 20(4), 2004
PMID: 14990452

Retrieving mutation-specific information for human proteins in UniProt/Swiss-Prot Knowledgebase.
Yip YL, Lachenal N, Pillet V, Veuthey AL., J Bioinform Comput Biol 5(6), 2007
PMID: 18172926

Extraction of human kinase mutations from literature, databases and genotyping studies.
Krallinger M, Izarzugaza JM, Rodriguez-Penagos C, Valencia A., BMC Bioinformatics 10 Suppl 8(), 2009
PMID: 19758464

Mutation nomenclature: nicknames, systematic names, and unique identifiers.
Beutler E, McKusick VA, Motulsky AG, Scriver CR, Hutchinson F., Hum. Mutat. 8(3), 1996
PMID: 8889577

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.
Antonarakis SE., Hum. Mutat. 11(1), 1998
PMID: 9450896

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.
den Dunnen JT, Antonarakis SE., Hum. Mutat. 15(1), 2000
PMID: 10612815

Nomenclature for the description of human sequence variations.
den Dunnen JT, Antonarakis SE., Hum. Genet. 109(1), 2001
PMID: 11479744

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges.
Ogino S, Gulley ML, den Dunnen JT, Wilson RB; Association for Molecular Patholpogy Training and Education Committtee., J Mol Diagn 9(1), 2007
PMID: 17251329

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.
Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE., Hum. Mutat. 29(1), 2008
PMID: 18000842

SNP-Converter: An Ontology-Based Solution to Reconcile Heterogeneous SNP Descriptions for Pharmacogenomic Studies
AUTHOR UNKNOWN, 2006

Identifying gene-specific variations in biomedical text.
Klinger R, Friedrich CM, Mevissen HT, Fluck J, Hofmann-Apitius M, Furlong LI, Sanz F., J Bioinform Comput Biol 5(6), 2007
PMID: 18172929

Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations.
Ogino S, Wilson RB., Hum. Mutat. 23(4), 2004
PMID: 15024734

Tagging gene and protein names in biomedical text.
Tanabe L, Wilbur WJ., Bioinformatics 18(8), 2002
PMID: 12176836

Protein names and how to find them.
Franzen K, Eriksson G, Olsson F, Asker L, Liden P, Coster J., Int J Med Inform 67(1-3), 2002
PMID: 12460631

What makes a gene name? Named entity recognition in the biomedical literature.
Leser U, Hakenberg J., Brief. Bioinformatics 6(4), 2005
PMID: 16420734

BioCreAtIvE task 1A: gene mention finding evaluation.
Yeh A, Morgan A, Colosimo M, Hirschman L., BMC Bioinformatics 6 Suppl 1(), 2005
PMID: 15960832

ProMiner: rule-based protein and gene entity recognition.
Hanisch D, Fundel K, Mevissen HT, Zimmer R, Fluck J., BMC Bioinformatics 6 Suppl 1(), 2005
PMID: 15960826

Inter-species normalization of gene mentions with GNAT.
Hakenberg J, Plake C, Leaman R, Schroeder M, Gonzalez G., Bioinformatics 24(16), 2008
PMID: 18689813

High-performance gene name normalization with GeNo.
Wermter J, Tomanek K, Hahn U., Bioinformatics 25(6), 2009
PMID: 19188193

MutationFinder: a high-performance system for extracting point mutation mentions from text.
Caporaso JG, Baumgartner WA Jr, Randolph DA, Cohen KB, Hunter L., Bioinformatics 23(14), 2007
PMID: 17495998

OSIRISv1.2: a named entity recognition system for sequence variants of genes in biomedical literature.
Furlong LI, Dach H, Hofmann-Apitius M, Sanz F., BMC Bioinformatics 9(), 2008
PMID: 18251998

Ambiguity of human gene symbols in LocusLink and MEDLINE: creating an inventory and a disambiguation test collection
AUTHOR UNKNOWN, 2003

Overview of BioCreAtIvE task 1B: normalized gene lists.
Hirschman L, Colosimo M, Morgan A, Yeh A., BMC Bioinformatics 6 Suppl 1(), 2005
PMID: 15960823

Overview of BioCreative II Gene Normalization
AUTHOR UNKNOWN, 2007

An entity tagger for recognizing acquired genomic variations in cancer literature.
McDonald RT, Winters RS, Mandel M, Jin Y, White PS, Pereira F., Bioinformatics 20(17), 2004
PMID: 15180929

Automatic extraction of protein point mutations using a graph bigram association.
Lee LC, Horn F, Cohen FE., PLoS Comput. Biol. 3(2), 2007
PMID: 17274683

Finishing the euchromatic sequence of the human genome.
International Human Genome Sequencing Consortium., Nature 431(7011), 2004
PMID: 15496913

Application of automatic mutation-gene pair extraction to diseases.
Erdogmus M, Sezerman OU., J Bioinform Comput Biol 5(6), 2007
PMID: 18172928

Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.
Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE., Nat. Genet. 39(1), 2007
PMID: 17192785

Mining the biomedical literature in the genomic era: an overview.
Shatkay H, Feldman R., J. Comput. Biol. 10(6), 2003
PMID: 14980013

Literature mining for the biologist: from information retrieval to biological discovery.
Jensen LJ, Saric J, Bork P., Nat. Rev. Genet. 7(2), 2006
PMID: 16418747

Discussion on mutation nomenclature.
Antonarakis SE, McKusick VA., Hum. Mutat. 4(2), 1994
PMID: 7981723

The HUGO Gene Nomenclature Database, 2006 updates.
Eyre TA, Ducluzeau F, Sneddon TP, Povey S, Bruford EA, Lush MJ., Nucleic Acids Res. 34(Database issue), 2006
PMID: 16381876

The Swiss-Prot variant page and the ModSNP database: a resource for sequence and structure information on human protein variants.
Yip YL, Scheib H, Diemand AV, Gattiker A, Famiglietti LM, Gasteiger E, Bairoch A., Hum. Mutat. 23(5), 2004
PMID: 15108278

Conditional Random Fields: Probabilistic Models for Segmenting and Labeling Sequence Data
AUTHOR UNKNOWN, 2001

MedRefSNP: a database of medically investigated SNPs
AUTHOR UNKNOWN, 2008

Variation resources at UC Santa Cruz.
Thomas DJ, Trumbower H, Kern AD, Rhead BL, Kuhn RM, Haussler D, Kent WJ., Nucleic Acids Res. 35(Database issue), 2006
PMID: 17151077

From genomics to chemical genomics: new developments in KEGG.
Kanehisa M, Goto S, Hattori M, Aoki-Kinoshita KF, Itoh M, Kawashima S, Katayama T, Araki M, Hirakawa M., Nucleic Acids Res. 34(Database issue), 2006
PMID: 16381885

Towards a systematic evaluation of protein mutation extraction systems.
Witte R, Baker CJ., J Bioinform Comput Biol 5(6), 2007
PMID: 18172932

Algorithm for grounding mutation mentions from text to protein sequences
AUTHOR UNKNOWN, 2010

Positive association of obesity with single nucleotide polymorphisms of syndecan 3 in the Korean population.
Ha E, Kim MJ, Choi BK, Rho JJ, Oh DJ, Rho TH, Kim KH, Lee HJ, Shin DH, Yim SV, Baik HH, Chung JH, Kim JW., J. Clin. Endocrinol. Metab. 91(12), 2006
PMID: 17018662

PGC-lalpha Thr394Thr and Gly482Ser variants are significantly associated with T2DM in two North Indian populations: a replicate case-control study
AUTHOR UNKNOWN, 2008

Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms.
Yoneyama T, Kasuya H, Onda H, Akagawa H, Hashiguchi K, Nakajima T, Hori T, Inoue I., Stroke 35(2), 2004
PMID: 14739420

Collagen morphology is not associated with the Ala549Pro polymorphism of the COL1A2 gene.
Arnold ML, Grond-Ginsbach C, Hausser I, Brandt T., Stroke 36(10), 2005
PMID: 16192463