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di jlangdon library [48 articles]

Articoli aggiunti di recente nella biblioteca di jlangdon .
  • Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association.
    Proceedings of the National Academy of Sciences of the United States of America, Vol. 105, No. 30. (29 July 2008), pp. 10471-10476.
    by AJ Webb, IL Berg, A Jeffreys
    posted to sperm recombination by jlangdon on 2008-09-04 10:56:51 as ** along with 2 people stevanspringer jasontsai
  • A quantitative assay for crossover and noncrossover molecular events at individual recombination hotspots in both male and female gametes
    Genomics, Vol. In Press, Corrected Proof
    by Siemon H Ng, Emil Parvanov, Petko M Petkov, Kenneth Paigen
    posted to assay recombination by jlangdon on 2008-09-01 09:09:52 as *****
  • Somatic mosaicism for copy number variation in differentiated human tissues.
    Human mutation (20 June 2008)
    by Arkadiusz Piotrowski, Carl E G E Bruder, Robin Andersson, Teresita Diaz D de Ståhl, Uwe Menzel, Johanna Sandgren, Andrzej Poplawski, Desiree von Tell, Chiquito Crasto, Adam Bogdan, Rafal Bartoszewski, Zsuzsa Bebok, Maciej Krzyzanowski, Zbigniew Jankowski, E Christopher C Partridge, Jan Komorowski, Jan P P Dumanski
    posted to copy number somatic variation by jlangdon on 2008-06-26 16:06:12 as **
  • Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
    Journal of medical genetics (11 June 2008)
    by Femke D D Hannes, Andrew J J Sharp, Heather C C Mefford, Thomy de Ravel, Claudia A A Ruivenkamp, Martijn H H Breuning, Jean-Pierre P Fryns, Koen Devriendt, Griet Van Buggenhout, Annick Vogels, Helen H H Stewart, Raoul C C Hennekam, Gregory M M Cooper, Regina Regan, Samantha Jl J Knight, Evan E E Eichler, Joris R R Vermeesch
    posted to deletion duplication nahr by jlangdon on 2008-06-23 11:33:50 as **
  • Recombination hotspot in NF1 microdeletion patients.
    Hum Mol Genet, Vol. 10, No. 13. (15 June 2001), pp. 1387-1392.
    by C López-Correa, M Dorschner, H Brems, C Lázaro, M Clementi, M Upadhyaya, D Dooijes, U Moog, H Kehrer-Sawatzki, JL Rutkowski, JP Fryns, P Marynen, K Stephens, E Legius
    posted to hotspot nf1 recombination by jlangdon on 2008-01-25 16:47:51 as **
  • Mutational mechanisms of Williams-Beuren syndrome deletions.
    Am J Hum Genet, Vol. 73, No. 1. (July 2003), pp. 131-151.
    by M Bayés, LF Magano, N Rivera, R Flores, LA Pérez Jurado
    posted to mutation williams-beuren by jlangdon on 2008-01-25 14:17:33 as **
  • A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
    Nat Genet, Vol. 29, No. 3. (November 2001), pp. 321-325.
    by LR Osborne, M Li, B Pober, D Chitayat, J Bodurtha, A Mandel, T Costa, T Grebe, S Cox, LC Tsui, SW Scherer
    posted to inversion syndrome williams-beuren by jlangdon on 2008-01-25 12:25:00 as **
  • Genomic rearrangements in the spotlight
    Nature Genetics, Vol. 40, No. 1., pp. 6-7.
    by Lucy R Osborne
    posted to genomic rearrangements by jlangdon on 2008-01-25 11:08:50 as **** along with 1 person ealloza
  • The Fanconi anaemia/BRCA pathway.
    Nat Rev Cancer, Vol. 3, No. 1. (January 2003), pp. 23-34.
    by AD D'Andrea, M Grompe
    posted to anaemia brca fanconi by jlangdon on 2008-01-23 14:51:53 as ** along with 1 person ecattell
  • Polymorphisms in DNA repair genes and epithelial ovarian cancer risk.
    Int J Cancer, Vol. 117, No. 4. (20 November 2005), pp. 611-618.
    by A Auranen, H Song, C Waterfall, RA Dicioccio, B Kuschel, SK Kjaer, E Hogdall, C Hogdall, J Stratton, AS Whittemore, DF Easton, BA Ponder, KL Novik, AM Dunning, S Gayther, PD Pharoah
    posted to carcinogenesis dna polymorphism repair by jlangdon on 2008-01-22 15:11:01 as **
  • Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes
    Science, Vol. 315, No. 5813. (9 February 2007), pp. 848-853.
    by Barbara E Stranger, Matthew S Forrest, Mark Dunning, Catherine E Ingle, Claude Beazley, Natalie Thorne, Richard Redon, Christine P Bird, Anna de Grassi, Charles Lee, Chris Tyler-Smith, Nigel Carter, Stephen W Scherer, Simon Tavare, Panagiotis Deloukas, Matthew E Hurles, Emmanouil T Dermitzakis
    posted to copy expression number variation by jlangdon on 2008-01-18 16:41:18 as ** along with 18 people and 3 groups daed psique jo_davies srp33 jyuh jfr dpollard balicea rdiaz qfwills djkt vplagnol shigepong xingxu cisevol caseybrown frohike jandot Bioinformatics EisenLab cis-regulatory-evolution
  • Fast-evolving non-coding sequences in the human genome
    Genome Biology, Vol. 8 (19 June 2007), R118.
    by Christine P Bird, Barbara E Stranger, Maureen Liu, Daryl J Thomas, Catherine E Ingle, Claude Beazley, Webb Miller, Matthew E Hurles, Emmanouil T Dermitzakis
    posted to evolution noncoding by jlangdon on 2008-01-18 16:39:45 as ** along with 5 people and 2 groups djkt Stew cisevol iris42 bpcusack EisenLab cis-regulatory-evolution
  • Challenges and standards in integrating surveys of structural variation.
    Nat Genet, Vol. 39, No. 7 Suppl. (July 2007)
    by SW Scherer, C Lee, E Birney, DM Altshuler, EE Eichler, NP Carter, ME Hurles, L Feuk
    posted to structural variation by jlangdon on 2008-01-18 16:36:12 as ** along with 4 people and 1 group jyuh bpb rdiaz jasonflannick Bioinformatics
  • Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome.
    Science (27 September 2007)
    by Jan O O Korbel, Alexander Eckehart E Urban, Jason P P Affourtit, Brian Godwin, Fabian Grubert, Jan Fredrik F Simons, Philip M M Kim, Dean Palejev, Nicholas J J Carriero, Lei Du, Bruce E E Taillon, Zhoutao Chen, Andrea Tanzer, A C Eugenia C Saunders, Jianxiang Chi, Fengtang Yang, Nigel P P Carter, Matthew E E Hurles, Sherman M M Weissman, Timothy T T Harkins, Mark B B Gerstein, Michael Egholm, Michael Snyder
    posted to end mapping paired structural variation by jlangdon on 2008-01-18 16:34:59 as ** along with 10 people and 1 group matthewsuderman dpollard dchughes AaronDarling rdiaz giovanni annacarina07 Neeperando jfr caseybrown EisenLab
  • Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization
    Genome Biology, Vol. 8 (25 October 2007), R228.
    by John C Marioni, Natalie P Thorne, Armand Valsesia, Tomas Fitzgerald, Richard Redon, Heike Fiegler, Daniel T Andrews, Barbara E Stranger, Andrew G Lynch, Emmanouil T Dermitzakis, Nigel P Carter, Simon Tavare, Matthew E Hurles
    posted to arraycgh copy number variation by jlangdon on 2008-01-18 16:33:19 as ** along with 2 people jfr sanchezbuelna
  • Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
    Nature Genetics, Vol. 40, No. 1. (02 December 2007), pp. 90-95.
    by Daniel J Turner, Marcos Miretti, Diana Rajan, Heike Fiegler, Nigel P Carter, Martyn L Blayney, Stephan Beck, Matthew E Hurles
    posted to germline homologous mutation rate recombination by jlangdon on 2008-01-18 16:31:56 as ** along with 1 person ealloza
  • Mouse minisatellite mutations induced by ionizing radiation.
    Nat Genet, Vol. 5, No. 1. (September 1993), pp. 92-94.
    by YE Dubrova, AJ Jeffreys, AM Malashenko
    posted to minisatellite mouse mutation radiation rate by jlangdon on 2008-01-18 16:24:19 as **
  • Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism.
    Nat Genet, Vol. 8, No. 2. (October 1994), pp. 162-170.
    by DG Monckton, R Neumann, T Guram, N Fretwell, K Tamaki, A MacLeod, AJ Jeffreys
    posted to flanking minisatellite mutation polymorphism rate by jlangdon on 2008-01-18 16:22:14 as **
  • Human minisatellite mutation rate after the Chernobyl accident.
    Nature, Vol. 380, No. 6576. (25 April 1996), pp. 683-686.
    by YE Dubrova, VN Nesterov, NG Krouchinsky, VA Ostapenko, R Neumann, DL Neil, AJ Jeffreys
    posted to minisatellite mutation radiation rate by jlangdon on 2008-01-18 16:20:23 as **
  • Mutation rate in the hypervariable VNTR g3 (D7S22) is affected by allele length and a flanking DNA sequence polymorphism near the repeat array.
    Am J Hum Genet, Vol. 59, No. 2. (August 1996), pp. 360-367.
    by R Andreassen, T Egeland, B Olaisen
    posted to minisatellite mutation rate by jlangdon on 2008-01-18 16:18:45 as **
  • Mutation rate heterogeneity and the generation of allele diversity at the human minisatellite MS205 (D16S309).
    Hum Mol Genet, Vol. 5, No. 11. (November 1996), pp. 1823-1833.
    by CA May, AJ Jeffreys, JA Armour
    posted to minisatellite mutation rate by jlangdon on 2008-01-18 16:15:58 as **
  • Stage specificity, dose response, and doubling dose for mouse minisatellite germ-line mutation induced by acute radiation.
    Proc Natl Acad Sci U S A, Vol. 95, No. 11. (26 May 1998), pp. 6251-6255.
    by YE Dubrova, M Plumb, J Brown, J Fennelly, P Bois, D Goodhead, AJ Jeffreys
    posted to germline minisatellite mouse mutation rate by jlangdon on 2008-01-18 16:12:42 as **
  • Direct analysis by small-pool PCR of MS205 minisatellite mutation rates in sperm after mutagenic therapies.
    Mutat Res, Vol. 445, No. 1. (15 September 1999), pp. 73-80.
    by JA Armour, MH Brinkworth, A Kamischke
    posted to germline minisatellite mutation rate by jlangdon on 2008-01-18 16:01:33 as **
  • Nuclear weapons tests and human germline mutation rate.
    Science, Vol. 295, No. 5557. (8 February 2002)
    by YE Dubrova, RI Bersimbaev, LB Djansugurova, MK Tankimanova, ZZh Mamyrbaeva, R Mustonen, C Lindholm, M Hultén, S Salomaa
    posted to germline minisatellite mutation radiation rate by jlangdon on 2008-01-18 15:57:19 as **
  • Elevated minisatellite mutation rate in the post-chernobyl families from ukraine.
    Am J Hum Genet, Vol. 71, No. 4. (October 2002), pp. 801-809.
    by YE Dubrova, G Grant, AA Chumak, VA Stezhka, AN Karakasian
    posted to minisatellite mutation radiation rate by jlangdon on 2008-01-18 15:51:44 as **
  • Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within loci.
    Hum Mutat, Vol. 23, No. 2. (February 2004), pp. 117-124.
    by BM Dupuy, M Stenersen, T Egeland, B Olaisen
    posted to microsatellite mutation rate by jlangdon on 2008-01-18 15:49:36 as **
  • Minisatellite germline mutation rate in the Techa River population.
    Mutat Res, Vol. 602, No. 1-2. (1 December 2006), pp. 74-82.
    by YE Dubrova, OG Ploshchanskaya, OS Kozionova, AV Akleyev
    posted to germline minisatellite mutation radiation by jlangdon on 2008-01-18 15:42:23 as **
  • Radiation-induced germline instability at minisatellite loci.
    Int J Radiat Biol, Vol. 74, No. 6. (December 1998), pp. 689-696.
    by YE Dubrova, M Plumb, J Brown, AJ Jeffreys
    posted to minisatellite mutation radiation by jlangdon on 2008-01-18 15:36:09 as **
  • Altered DNA repair and recombination responses in mouse cells expressing wildtype or mutant forms of RAD51.
    DNA Repair (Amst), Vol. 6, No. 12. (1 December 2007), pp. 1876-1889.
    by A Rukść, EC Birmingham, MD Baker
    posted to mouse mutant rad51 recombination by jlangdon on 2008-01-18 15:30:50 as **
  • A deletion polymorphism due to Alu-Alu recombination in intron 2 of the retinoblastoma gene: association with human gliomas.
    Mol Carcinog, Vol. 19, No. 2. (June 1997), pp. 69-73.
    by PG Rothberg, S Ponnuru, D Baker, JF Bradley, AI Freeman, GW Cibis, DJ Harris, DP Heruth
    posted to alu carcinogenesis recombination by jlangdon on 2008-01-18 14:38:41 as **
  • An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10.
    Genes Chromosomes Cancer, Vol. 28, No. 3. (July 2000), pp. 300-307.
    by EM Rohlfs, N Puget, ML Graham, BL Weber, JE Garber, C Skrzynia, JL Halperin, GM Lenoir, LM Silverman, S Mazoyer
    posted to alu brca1 deletion by jlangdon on 2008-01-18 14:35:19 as **
  • The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors.
    Genes Chromosomes Cancer, Vol. 35, No. 2. (October 2002), pp. 97-112.
    by E Kolomietz, MS Meyn, A Pandita, JA Squire
    posted to alu carcinogenesis recombination by jlangdon on 2008-01-18 14:32:51 as ** along with 1 person emb51
  • Amplification and overexpression of genes in 17p11.2 ~ p12 in osteosarcoma.
    Cancer Genet Cytogenet, Vol. 153, No. 1. (August 2004), pp. 77-80.
    by M van Dartel, TJ Hulsebos
    posted to 17p112 carcinogenesis recombination repeat by jlangdon on 2008-01-18 14:28:55 as **
  • Wild-type p53 stimulates homologous recombination upon sequence-specific binding to the ribosomal gene cluster repeat
    Oncogene, Vol. aop, No. current.
    by Gisa S Boehden, Cindy Baumann, Simone Siehler, Lisa Wiesmüller, Lisa Wiesmüller
    posted to homologous p53 recombination by jlangdon on 2008-01-18 14:17:55 as ** along with 1 person jjohnson17
  • BRCA2 regulates homologous recombination in response to DNA damage: implications for genome stability and carcinogenesis.
    Cancer Res, Vol. 65, No. 10. (15 May 2005), pp. 4117-4125.
    by C Abaji, I Cousineau, A Belmaaza
    posted to brca2 homologous recombination by jlangdon on 2008-01-18 14:14:16 as ** along with 2 people ecattell RyanGray
  • Detection of APC gene deletion by double competitive polymerase chain reaction in patients with familial adenomatous polyposis.
    Int J Oncol, Vol. 29, No. 2. (August 2006), pp. 413-421.
    by M Takahashi, M Kikuchi, N Ohkura, H Yaguchi, Y Nagamura, S Ohnami, M Ushiama, T Yoshida, K Sugano, T Iwama, S Kosugi, T Tsukada
    posted to carcinogenesis deletion repeat by jlangdon on 2008-01-18 14:08:38 as **
  • Alu elements mediate MYB gene tandem duplication in human T-ALL.
    J Exp Med, Vol. 204, No. 13. (24 December 2007), pp. 3059-3066.
    by J O'Neil, J Tchinda, A Gutierrez, L Moreau, RS Maser, KK Wong, W Li, K McKenna, XS Liu, B Feng, D Neuberg, L Silverman, DJ DeAngelo, JL Kutok, R Rothstein, RA DePinho, L Chin, C Lee, AT Look
    posted to alu carcinogenesis homologous recombination by jlangdon on 2008-01-18 14:03:37 as ** along with 1 person oelemento
  • Involvement of homologous recombination in carcinogenesis.
    Adv Genet, Vol. 58 (2007), pp. 67-87.
    by R Reliene, AJ Bishop, RH Schiestl
    posted to carcinogenesis homologous recombination by jlangdon on 2008-01-18 13:53:41 as **
  • Accurate homologous recombination is a prominent double-strand break repair pathway in Mammalian chromosomes and is modulated by mismatch repair protein Msh2.
    Mol Cell Biol, Vol. 27, No. 22. (November 2007), pp. 7816-7827.
    by JA Smith, LA Bannister, V Bhattacharjee, Y Wang, BC Waldman, AS Waldman
    posted to homologous msh2 recombination by jlangdon on 2008-01-18 13:49:40 as **
  • Characterization of a recurrent 15q24 microdeletion syndrome.
    Hum Mol Genet, Vol. 16, No. 5. (1 March 2007), pp. 567-572.
    by AJ Sharp, RR Selzer, JA Veltman, S Gimelli, G Gimelli, P Striano, A Coppola, R Regan, SM Price, NV Knoers, PS Eis, HG Brunner, RC Hennekam, SJ Knight, BB de Vries, O Zuffardi, EE Eichler
    posted to microdeletion syndrome by jlangdon on 2008-01-18 12:10:43 as **
  • Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.
    Hum Genet, Vol. 115, No. 1. (June 2004), pp. 69-80.
    by M Venturin, C Gervasini, F Orzan, A Bentivegna, L Corrado, P Colapietro, A Friso, R Tenconi, M Upadhyaya, L Larizza, P Riva
    posted to microdeletion nahr nf1 by jlangdon on 2008-01-18 12:00:32 as **
  • A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.
    Am J Med Genet A, Vol. 143, No. 18. (15 September 2007), pp. 2178-2184.
    by FM Mikhail, M Descartes, A Piotrowski, R Andersson, TD de Ståhl, J Komorowski, CE Bruder, JP Dumanski, AJ Carroll
    posted to 22q112 lcr microdeletion nahr by jlangdon on 2008-01-18 11:36:48 as **
  • NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
    European Journal of Human Genetics, Vol. aop, No. current.
    by Bernard Grisart, Katrina Rack, Sébastien Vidrequin, Pascale Hilbert, Pierre Deltenre, Christine Verellen-Dumoulin, Anne Destrée
    posted to lcr microdeletion nahr by jlangdon on 2008-01-18 11:19:43 as **
  • The population genetics of structural variation.
    Nat Genet, Vol. 39, No. 7 Suppl. (July 2007)
    by DF Conrad, ME Hurles
    posted to genetics population structural variation by jlangdon on 2008-01-17 09:38:06 as *** along with 3 people jyuh mrkrause rdiaz
  • Wnt/Wingless pathway activation and chromosome 6 loss characterize a distinct molecular sub-group of medulloblastomas associated with a favorable prognosis.
    Cell Cycle, Vol. 5, No. 22. (November 2006), pp. 2666-2670.
    by SC Clifford, ME Lusher, JC Lindsey, JA Langdon, RJ Gilbertson, D Straughton, DW Ellison
    posted to medulloblastoma by jlangdon on 2007-09-13 23:32:33 as ** along with 1 person aviad_work
  • Polymorphisms in the apolipoprotein(a) gene and their relationship to allele size and plasma lipoprotein(a) concentration.
    Hum Mol Genet, Vol. 6, No. 7. (July 1997), pp. 1099-1107.
    by LH Puckey, RM Lawn, BL Knight
    posted to a apolipoprotein by jlangdon on 2007-08-04 00:14:24 as ***
  • A comprehensive analysis of common copy-number variations in the human genome.
    Am J Hum Genet, Vol. 80, No. 1. (January 2007), pp. 91-104.
    by KK Wong, RJ deLeeuw, NS Dosanjh, LR Kimm, Z Cheng, DE Horsman, C MacAulay, RT Ng, CJ Brown, EE Eichler, WL Lam
    posted to human variation by jlangdon on 2007-07-27 23:01:42 as ***** along with 1 group Bioinformatics
  • Completing the map of human genetic variation
    Nature, Vol. 447, No. 7141. (10 May 2007), pp. 161-165.
    posted to human variation by jlangdon on 2007-07-27 22:08:24 as ** along with 4 people and 3 groups jyuh dchughes rdiaz massivemayhem Bioinformatics G4ID Genetics-of-Gambling
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