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    Results: 1 to 50 of 291

    1.

    Automated inference of molecular mechanisms of disease from amino acid substitutions.

    Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, Mooney SD, Radivojac P.

    Bioinformatics. 2009 Nov 1;25(21):2744-50. Epub 2009 Sep 3.PMID: 19734154 [PubMed - in process]Related articles

    2.

    Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes.

    Chen JM, Férec C, Cooper DN.

    Hum Mutat. 2009 Oct;30(10):1435-48.PMID: 19685533 [PubMed - in process]Related articles

    3.

    Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

    Tappino B, Chuzhanova NA, Regis S, Dardis A, Corsolini F, Stroppiano M, Tonoli E, Beccari T, Rosano C, Mucha J, Blanco M, Szlago M, Di Rocco M, Cooper DN, Filocamo M.

    Hum Mutat. 2009 Nov;30(11):E956-73.PMID: 19634183 [PubMed - in process]Related articles

    4.

    Elucidation of the complex structure and origin of the human trypsinogen locus triplication.

    Chauvin A, Chen JM, Quemener S, Masson E, Kehrer-Sawatzki H, Ohmle B, Cooper DN, Le Maréchal C, Férec C.

    Hum Mol Genet. 2009 Oct 1;18(19):3605-14. Epub 2009 Jul 7.PMID: 19584086 [PubMed - indexed for MEDLINE]Related articles

    5.

    Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes.

    Kolb J, Chuzhanova NA, Högel J, Vasquez KM, Cooper DN, Bacolla A, Kehrer-Sawatzki H.

    Chromosome Res. 2009;17(4):469-83. Epub 2009 May 28.PMID: 19475482 [PubMed - indexed for MEDLINE]Related articles

    6.

    Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.

    Chuzhanova N, Chen JM, Bacolla A, Patrinos GP, Férec C, Wells RD, Cooper DN.

    Hum Mutat. 2009 Aug;30(8):1189-98.PMID: 19431182 [PubMed - indexed for MEDLINE]Related articles

    7.

    Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution.

    Kemkemer C, Kohn M, Cooper DN, Froenicke L, Högel J, Hameister H, Kehrer-Sawatzki H.

    BMC Evol Biol. 2009 Apr 24;9:84.PMID: 19393055 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.

    Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T.

    Hum Mutat. 2009 Jun;30(6):978-84.PMID: 19370764 [PubMed - indexed for MEDLINE]Related articles

    9.

    The Human Gene Mutation Database: 2008 update.

    Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN.

    Genome Med. 2009 Jan 22;1(1):13. [Epub ahead of print]PMID: 19348700 [PubMed - as supplied by publisher]Related articlesFree article

    10.

    STREGA: a 'How-To' guide for reporting genetic associations.

    Hudson TJ, Cooper DN.

    Hum Genet. 2009 Mar;125(2):117-8. No abstract available. PMID: 19184667 [PubMed - indexed for MEDLINE]Related articles

    11.

    Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts.

    Sanford JR, Wang X, Mort M, Vanduyn N, Cooper DN, Mooney SD, Edenberg HJ, Liu Y.

    Genome Res. 2009 Mar;19(3):381-94. Epub 2008 Dec 30.PMID: 19116412 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    Air pollution and mutations in the germline: are humans at risk?

    Somers CM, Cooper DN.

    Hum Genet. 2009 Mar;125(2):119-30. Epub 2008 Dec 27. Review.PMID: 19112582 [PubMed - indexed for MEDLINE]Related articles

    13.

    Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population.

    Millar DS, Lewis MD, Horan M, Newsway V, Rees DA, Easter TE, Pepe G, Rickards O, Norin M, Scanlon MF, Krawczak M, Cooper DN.

    Mol Cell Endocrinol. 2008 Dec 16;296(1-2):18-25. Epub 2008 Oct 4.PMID: 18950677 [PubMed - indexed for MEDLINE]Related articles

    14.

    Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis.

    Leybrand S, Rossier E, Barbi G, Cooper DN, Kehrer-Sawatzki H.

    Genomic Med. 2007;1(1-2):65-73. Epub 2007 Jul 11.PMID: 18923930 [PubMed - in process]Related articlesFree article

    15.

    Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variants.

    Chuzhanova N, Cooper DN, Férec C, Chen JM.

    Genomic Med. 2007;1(1-2):29-33. Epub 2007 Jan 30.PMID: 18923926 [PubMed - in process]Related articlesFree article

    16.

    Mechanism of Alu integration into the human genome.

    Chen JM, Férec C, Cooper DN.

    Genomic Med. 2007;1(1-2):9-17. Epub 2007 Mar 28.PMID: 18923924 [PubMed - in process]Related articlesFree article

    17.

    Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene.

    Rosser LG, McKee S, Millar DS, Archer H, Hughes J, Butler R, Chuzhanova N, Cooper DN, Lazarou LP.

    Genomic Med. 2008 Dec;2(3-4):77-81. Epub 2008 Sep 20.PMID: 18810657 [PubMed - in process]Related articles

    18.

    A gene conversion hotspot in the human growth hormone (GH1) gene promoter.

    Wolf A, Millar DS, Caliebe A, Horan M, Newsway V, Kumpf D, Steinmann K, Chee IS, Lee YH, Mutirangura A, Pepe G, Rickards O, Schmidtke J, Schempp W, Chuzhanova N, Kehrer-Sawatzki H, Krawczak M, Cooper DN.

    Hum Mutat. 2009 Feb;30(2):239-47.PMID: 18800374 [PubMed - indexed for MEDLINE]Related articles

    19.

    Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.

    Steinmann K, Kluwe L, Friedrich RE, Mautner VF, Cooper DN, Kehrer-Sawatzki H.

    J Invest Dermatol. 2009 Mar;129(3):615-21. Epub 2008 Sep 18.PMID: 18800150 [PubMed - indexed for MEDLINE]Related articles

    20.

    Gross deletions and translocations in human genetic disease.

    Abeysinghe SS, Chuzhanova N, Cooper DN.

    Genome Dyn. 2006;1:17-34. Review.PMID: 18724051 [PubMed - indexed for MEDLINE]Related articles

    21.

    Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties.

    Bacolla A, Larson JE, Collins JR, Li J, Milosavljevic A, Stenson PD, Cooper DN, Wells RD.

    Genome Res. 2008 Oct;18(10):1545-53. Epub 2008 Aug 7.PMID: 18687880 [PubMed - indexed for MEDLINE]Related articlesFree article

    22.

    Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?

    Kehrer-Sawatzki H, Cooper DN.

    J Med Genet. 2008 Oct;45(10):622-31. Epub 2008 May 29. Review.PMID: 18511569 [PubMed - indexed for MEDLINE]Related articles

    23.

    A meta-analysis of nonsense mutations causing human genetic disease.

    Mort M, Ivanov D, Cooper DN, Chuzhanova NA.

    Hum Mutat. 2008 Aug;29(8):1037-47.PMID: 18454449 [PubMed - indexed for MEDLINE]Related articles

    24.

    The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms.

    Cooper DN, Stenson PD, Chuzhanova NA.

    Curr Protoc Bioinformatics. 2006 Jan;Chapter 1:Unit 1.13.PMID: 18428754 [PubMed - indexed for MEDLINE]Related articles

    25.

    Molecular mechanisms of chromosomal rearrangement during primate evolution.

    Kehrer-Sawatzki H, Cooper DN.

    Chromosome Res. 2008;16(1):41-56. Review.PMID: 18293104 [PubMed - indexed for MEDLINE]Related articles

    26.

    Human Gene Mutation Database: towards a comprehensive central mutation database.

    Stenson PD, Ball E, Howells K, Phillips A, Mort M, Cooper DN.

    J Med Genet. 2008 Feb;45(2):124-6. No abstract available. PMID: 18245393 [PubMed - indexed for MEDLINE]Related articles

    27.

    Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.

    Steinmann K, Kluwe L, Cooper DN, Brems H, De Raedt T, Legius E, Mautner VF, Kehrer-Sawatzki H.

    Eur J Hum Genet. 2008 May;16(5):572-80. Epub 2008 Jan 23.PMID: 18212816 [PubMed - indexed for MEDLINE]Related articlesFree article

    28.

    Comparative analysis of copy number variation in primate genomes.

    Kehrer-Sawatzki H, Cooper DN.

    Cytogenet Genome Res. 2008;123(1-4):288-96. Epub 2009 Mar 11.PMID: 19287167 [PubMed - indexed for MEDLINE]Related articles

    29.

    Copy number variation and disease. Preface.

    Kehrer-Sawatzki H, Cooper DN.

    Cytogenet Genome Res. 2008;123(1-4):5-6. No abstract available. PMID: 19287133 [PubMed - indexed for MEDLINE]Related articles

    30.

    Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.

    Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, Serra E, Lazaro C, Gilaberte M, Wimmer K, Mautner VF, Kehrer-Sawatzki H.

    Am J Hum Genet. 2007 Dec;81(6):1201-20. Epub 2007 Oct 31.PMID: 17999360 [PubMed - indexed for MEDLINE]Related articlesFree article

    31.

    Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease.

    Xie F, Wang X, Cooper DN, Lan F, Fang Y, Cai X, Wang Z, Wang H.

    Haemophilia. 2007 Sep;13(5):645-8.PMID: 17880457 [PubMed - indexed for MEDLINE]Related articles

    32.

    Gene conversion: mechanisms, evolution and human disease.

    Chen JM, Cooper DN, Chuzhanova N, Férec C, Patrinos GP.

    Nat Rev Genet. 2007 Oct;8(10):762-75. Epub 2007 Sep 11. Review.PMID: 17846636 [PubMed - indexed for MEDLINE]Related articles

    33.

    Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis.

    Masson E, Le Maréchal C, Levy P, Chuzhanova N, Ruszniewski P, Cooper DN, Chen JM, Férec C.

    Mol Genet Metab. 2007 Sep-Oct;92(1-2):168-75. Epub 2007 Jul 27.PMID: 17681820 [PubMed - indexed for MEDLINE]Related articles

    34.

    Detection of two Alu insertions in the CFTR gene.

    Chen JM, Masson E, Macek M Jr, Raguénès O, Piskackova T, Fercot B, Fila L, Cooper DN, Audrézet MP, Férec C.

    J Cyst Fibros. 2008 Jan;7(1):37-43. Epub 2007 May 24.PMID: 17531547 [PubMed - indexed for MEDLINE]Related articles

    35.

    Gain-of-glycosylation mutations.

    Vogt G, Vogt B, Chuzhanova N, Julenius K, Cooper DN, Casanova JL.

    Curr Opin Genet Dev. 2007 Jun;17(3):245-51. Epub 2007 Apr 30. Review.PMID: 17467977 [PubMed - indexed for MEDLINE]Related articles

    36.

    Evolutionary and biomedical insights from the rhesus macaque genome.

    Rhesus Macaque Genome Sequencing and Analysis Consortium, Gibbs RA, Rogers J, Katze MG, Bumgarner R, Weinstock GM, Mardis ER, Remington KA, Strausberg RL, Venter JC, Wilson RK, Batzer MA, Bustamante CD, Eichler EE, Hahn MW, Hardison RC, Makova KD, Miller W, Milosavljevic A, Palermo RE, Siepel A, Sikela JM, Attaway T, Bell S, Bernard KE, Buhay CJ, Chandrabose MN, Dao M, Davis C, Delehaunty KD, Ding Y, Dinh HH, Dugan-Rocha S, Fulton LA, Gabisi RA, Garner TT, Godfrey J, Hawes AC, Hernandez J, Hines S, Holder M, Hume J, Jhangiani SN, Joshi V, Khan ZM, Kirkness EF, Cree A, Fowler RG, Lee S, Lewis LR, Li Z, Liu YS, Moore SM, Muzny D, Nazareth LV, Ngo DN, Okwuonu GO, Pai G, Parker D, Paul HA, Pfannkoch C, Pohl CS, Rogers YH, Ruiz SJ, Sabo A, Santibanez J, Schneider BW, Smith SM, Sodergren E, Svatek AF, Utterback TR, Vattathil S, Warren W, White CS, Chinwalla AT, Feng Y, Halpern AL, Hillier LW, Huang X, Minx P, Nelson JO, Pepin KH, Qin X, Sutton GG, Venter E, Walenz BP, Wallis JW, Worley KC, Yang SP, Jones SM, Marra MA, Rocchi M, Schein JE, Baertsch R, Clarke L, Csürös M, Glasscock J, Harris RA, Havlak P, Jackson AR, Jiang H, Liu Y, Messina DN, Shen Y, Song HX, Wylie T, Zhang L, Birney E, Han K, Konkel MK, Lee J, Smit AF, Ullmer B, Wang H, Xing J, Burhans R, Cheng Z, Karro JE, Ma J, Raney B, She X, Cox MJ, Demuth JP, Dumas LJ, Han SG, Hopkins J, Karimpour-Fard A, Kim YH, Pollack JR, Vinar T, Addo-Quaye C, Degenhardt J, Denby A, Hubisz MJ, Indap A, Kosiol C, Lahn BT, Lawson HA, Marklein A, Nielsen R, Vallender EJ, Clark AG, Ferguson B, Hernandez RD, Hirani K, Kehrer-Sawatzki H, Kolb J, Patil S, Pu LL, Ren Y, Smith DG, Wheeler DA, Schenck I, Ball EV, Chen R, Cooper DN, Giardine B, Hsu F, Kent WJ, Lesk A, Nelson DL, O'brien WE, Prüfer K, Stenson PD, Wallace JC, Ke H, Liu XM, Wang P, Xiang AP, Yang F, Barber GP, Haussler D, Karolchik D, Kern AD, Kuhn RM, Smith KE, Zwieg AS.

    Science. 2007 Apr 13;316(5822):222-34.PMID: 17431167 [PubMed - indexed for MEDLINE]Related articlesFree article

    37.

    A legal framework for biobanking: the German experience.

    Simon J, Paslack R, Robienski J, Cooper DN, Goebel JW, Krawczak M.

    Eur J Hum Genet. 2007 May;15(5):528-32. Epub 2007 Mar 14.PMID: 17356548 [PubMed - indexed for MEDLINE]Related articlesFree article

    38.

    Chromosomal speciation of humans and chimpanzees revisited: studies of DNA divergence within inverted regions.

    Szamalek JM, Cooper DN, Hoegel J, Hameister H, Kehrer-Sawatzki H.

    Cytogenet Genome Res. 2007;116(1-2):53-60.PMID: 17268178 [PubMed - indexed for MEDLINE]Related articles

    39.

    Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

    Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V.

    Hum Mutat. 2007 Mar;28(3):255-64.PMID: 17072863 [PubMed - indexed for MEDLINE]Related articlesFree article

    40.

    Structural divergence between the human and chimpanzee genomes.

    Kehrer-Sawatzki H, Cooper DN.

    Hum Genet. 2007 Feb;120(6):759-78. Epub 2006 Oct 26. Review.PMID: 17066299 [PubMed - indexed for MEDLINE]Related articles

    41.

    Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons.

    Kehrer-Sawatzki H, Cooper DN.

    Hum Mutat. 2007 Feb;28(2):99-130. Review.PMID: 17024666 [PubMed - indexed for MEDLINE]Related articles

    42.

    Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

    Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, Cooper DN.

    Hum Mutat. 2007 Feb;28(2):150-8.PMID: 17001642 [PubMed - indexed for MEDLINE]Related articles

    44.

    Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.

    Goidts V, Cooper DN, Armengol L, Schempp W, Conroy J, Estivill X, Nowak N, Hameister H, Kehrer-Sawatzki H.

    Hum Genet. 2006 Sep;120(2):270-84. Epub 2006 Jul 13.PMID: 16838144 [PubMed - indexed for MEDLINE]Related articles

    46.

    Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex.

    Han S, Cooper DN, Bowden PE.

    Br J Dermatol. 2006 Jul;155(1):201-3. No abstract available. PMID: 16792776 [PubMed - indexed for MEDLINE]Related articles

    47.

    In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularity.

    Khan IA, Mort M, Buckland PR, O'Donovan MC, Cooper DN, Chuzhanova NA.

    In Silico Biol. 2006;6(1-2):23-34.PMID: 16789908 [PubMed - indexed for MEDLINE]Related articlesFree article

    48.

    Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes.

    Szamalek JM, Goidts V, Cooper DN, Hameister H, Kehrer-Sawatzki H.

    Hum Genet. 2006 Aug;120(1):126-38. Epub 2006 Jun 15.PMID: 16775709 [PubMed - indexed for MEDLINE]Related articles

    49.

    Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region.

    Bacolla A, Collins JR, Gold B, Chuzhanova N, Yi M, Stephens RM, Stefanov S, Olsh A, Jakupciak JP, Dean M, Lempicki RA, Cooper DN, Wells RD.

    Nucleic Acids Res. 2006 May 19;34(9):2663-75. Print 2006.PMID: 16714445 [PubMed - indexed for MEDLINE]Related articlesFree article

    50.

    A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regions.

    Xie F, Wang X, Cooper DN, Chuzhanova N, Fang Y, Cai X, Wang Z, Wang H.

    Blood Cells Mol Dis. 2006 May-Jun;36(3):385-91. Epub 2006 May 11.PMID: 16690331 [PubMed - indexed for MEDLINE]Related articles

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