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Titel:TOUCHINGbase
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Erschienen in:NATURE GENETICS ; 25 ; 9-10
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Verlag:
- Neue Suche nach: NATURE PUBLISHING CO.
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Erscheinungsdatum:01.01.2000
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Format / Umfang:2 pages
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ISSN:
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Medientyp:Aufsatz (Zeitschrift)
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Format:Print
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Sprache:Englisch
- Neue Suche nach: 576.5
- Weitere Informationen zu Dewey Decimal Classification
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Klassifikation:
DDC: 576.5 -
Datenquelle:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Inhaltsverzeichnis – Band 25
Zeige alle Jahrgänge und Ausgaben
Die Inhaltsverzeichnisse werden automatisch erzeugt und basieren auf den im Index des TIB-Portals verfügbaren Einzelnachweisen der enthaltenen Beiträge. Die Anzeige der Inhaltsverzeichnisse kann daher unvollständig oder lückenhaft sein.
- 1
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Sex, genes and women's health| 2000
- 3
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Robustness-it's not where you think it isWolfe, K. et al. | 2000
- 4
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Maintaining imprintingMann, M. R. / Bartolomei, M. S. et al. | 2000
- 6
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Triglycerides and toggling the tummyKahn, C. R. et al. | 2000
- 137
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Touching base| 2000
- 11
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OMIM passes the 1,000-disease-gene markAntonarakis, Stylianos E. / McKusick, Victor A. et al. | 2000
- 12
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Allegro, a new computer program for multipoint linkage analysisGudbjartsson, Daniel F. / Jonasson, Kristjan / Frigge, Michael L. / Kong, Augustine et al. | 2000
- 14
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The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22Camaschella, Clara / Roetto, Antonella / Calì, Angelita / De Gobbi, Marco / Garozzo, Giovanni / Carella, Massimo / Majorano, Nunzia / Totaro, Angela / Gasparini, Paolo et al. | 2000
- 14
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The gene TER2 is mutated in a new type of haemochromatosis mapping to 7q22Camaschella, C. / Roetto, A. / Cali, A. / De Gobbi, M. / Garozzo, G. / Carella, M. / Majorano, N. / Totaro, A. / Gasparini, P. et al. | 2000
- 15
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Missense mutations in MIP underlie autosomal dominant ‘polymorphic’ and lamellar cataracts linked to 12qBerry, Vanita / Francis, Peter / Kaushal, Shalesh / Moore, Anthony / Bhattacharya, Shomi et al. | 2000
- 17
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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2Bolino, Alessandra / Muglia, Maria / Conforti, Francesca Luisa / LeGuern, Eric / Salih, Mustafa A.M. / Georgiou, Domna-Maria / Christodoulou, Kyproula / Hausmanowa-Petrusewicz, Irena / Mandich, Paola / Schenone, Angelo et al. | 2000
- 19
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The imprinted antisense RNA at the Igf2r locus overlaps but does not imprint Mas1Lyle, Robert / Watanabe, Daisuke / Vruchte, Daniëlle te / Lerchner, Walter / Smrzka, Oskar W. / Wutz, Anton / Schageman, Jeoffrey / Hahner, Lisa / Davies, Christopher / Barlow, Denise P. et al. | 2000
- 19
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The imprinted antisense RNA at the lgf2r locus overlaps but does not imprint Mas1Lyle, R. / Watanabe, D. / Vruchte, D. t. / Lerchner, W. / Smrzka, O. W. / Wutz, A. / Schageman, J. / Hahner, L. / Davies, C. / Barlow, D. P. et al. | 2000
- 23
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The helix filesDavies, K. et al. | 2000
- 24
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New tricks with pond scumMiller, M. C. / Collins, K. et al. | 2000
- 25
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Gene Ontology: tool for the unification of biologyThe Gene Ontology Consortium et al. | 2000
- 31
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Shotgun sample sequence comparisons between mouse and human genomesBouck, J. B. / Metzker, M. L. / Gibbs, R. A. et al. | 2000
- 35
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Somatic integration and long-term transgene expression in normal and haemophilic mice using a DNA transposon systemYant, S. R. / Meuse, L. / Chiu, W. / Ivics, Z. / Izsvak, Z. / Kay, M. A. et al. | 2000
- 42
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Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosusSatoda, M. / Zhao, F. / Diaz, G. A. / Burn, J. / Goodship, J. / Davidson, H. R. / Pierpont, M. E. / Gelb, B. D. et al. | 2000
- 47
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A common polymorphism acts as an intragenic modifier of mutant p53 behaviourMarin, M. C. / Jost, C. A. / Brooks, L. A. / Irwin, M. S. / O'Nions, J. / Tidy, J. A. / James, N. / McGregor, J. M. / Harwood, C. A. / Yulug, I. G. et al. | 2000
- 55
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Combined activation of Ras and Akt in neural progenitors induces glioblastoma formation in miceHolland, E. C. / Celestino, J. / Dai, C. / Schaefer, L. / Sawaya, R. E. / Fuller, G. N. et al. | 2000
- 58
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Large-scale identification of secreted and membrane-associated gene products using DNA microarraysDiehn, M. / Eisen, M. B. / Botstein, D. / Brown, P. O. et al. | 2000
- 63
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Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degenerationGrimm, C. / Wenzel, A. / Hafezi, F. / Yu, S. / Redmond, T. M. / Reme, C. E. et al. | 2000
- 67
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Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesisClarke, G. / Goldberg, A. F. X. / Vidgen, D. / Collins, L. / Ploder, L. / Schwarz, L. / Molday, L. L. / Rossant, J. / Szel, A. / Molday, R. S. et al. | 2000
- 241
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De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch| 2000
- 79
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Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndromeStone, D. L. / Slavotinek, A. / Bouffard, G. G. / Banerjee-Basu, S. / Baxevanis, A. D. / Barr, M. / Biesecker, L. G. et al. | 2000
- 83
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Conditional inactivation of Fgf4 reveals complexity of signalling during limb bud developmentSun, X. / Lewandoski, M. / Meyers, E. N. / Liu, Y.-H. / Maxson, R. E. / Martin, G. R. et al. | 2000
- 87
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Obesity resistance and multiple mechanisms of triglyceride synthesis in mice lacking DgatSmith, S. J. / Cases, S. / Jensen, D. R. / Chen, H. C. / Sande, E. / Tow, B. / Sanan, D. A. / Raber, J. / Eckel, R. H. / Farese, R. V. et al. | 2000
- 91
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Mutations in KERA, encoding keratocan, cause cornea planaPellegata, N. S. / Dieguez-Lucena, J. L. / Joensuu, T. / Lau, S. / Montgomery, K. T. / Krahe, R. / Kivela, T. / Kucherlapati, R. / Forsius, H. / de la Chapelle, A. et al. | 2000
- 96
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Transcript imaging of the development of human T helper cells using oligonucleotide arraysRogge, L. / Bianchi, E. / Biffi, M. / Bono, E. / Chang, S. Y. / Alexander, H. / Santini, C. / Ferrari, G. / Sinigaglia, L. / Seiler, M. et al. | 2000
- 102
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Dopamine is required for hyperphagia in Lepob/ob miceSzczypka, Mark S. / Rainey, Mark A. / Palmiter, Richard D. et al. | 2000
- 105
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Mice deficient in Six5 develop cataracts: implications for myotonic dystrophyKlesert, Todd R. / Cho, Diane H. / Clark, John I. / Maylie, James / Adelman, John / Snider, Lauren / Yuen, Eric C. / Soriano, Philippe / Tapscott, Stephen J. et al. | 2000
- 110
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Heterozygous loss of Six5 in mice is sufficient to cause ocular cataractsSarkar, Partha S. / Appukuttan, Binoy / Han, Jennifer / Ito, Yoshihiro / Ai, Cuiwei / Tsai, Wenli / Chai, Yang / Stout, J. Timothy / Reddy, Sita et al. | 2000
- 115
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ATM-dependent phosphorylation of nibrin in response to radiation exposureGatei, Magtouf / Young, David / Cerosaletti, Karen M. / Desai-Mehta, Ami / Spring, Kevin / Kozlov, Sergei / Lavin, Martin F. / Gatti, Richard A. / Concannon, Patrick / Khanna, KumKum et al. | 2000
- 120
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Genetic and epigenetic incompatibilities underlie hybrid dysgenesis in PeromyscusVrana, Paul B. / Fossella, John A. / Matteson, Paul / del Rio, Tony / O'Neill, Michael J. / Tilghman, Shirley M. et al. | 2000
- 125
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Correction to “NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome”| 2000
- 125
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Erratum to “Analysing complex genetic traits with chromosome substitution strains”| 2000
- 125
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Erratum to “Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis”| 2000
- 125
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Erratum to “MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans”| 2000
- 127
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The nature of the number| 2000
- 129
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How to count…human genesAparicio, Samuel A J R et al. | 2000
- 130
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Better taste through chemistryMombaerts, Peter et al. | 2000
- 132
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A radical solution to deathKlein, Hannah L et al. | 2000
- 134
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Panning for pancreatic stem cellsSerup, Palle et al. | 2000
- 135
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Lupus, DNase and defective disposal of cellular debrisWalport, Mark J et al. | 2000
- 139
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High-efficiency deleter mice show that FLPe is an alternative to Cre-IoxPRodriguez, C. I. / Buchholz, F. / Galloway, J. / Sequerra, R. / Kasper, J. / Ayala, R. / Stewart, A. F. / Dymecki, S. M. et al. | 2000
- 139
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High-efficiency deleter mice show that FLPe is an alternative to Cre-loxPRodríguez, Carolyn I. / Buchholz, Frank / Galloway, Jenna / Sequerra, Reynaldo / Kasper, Jocelyn / Ayala, Ramses / Stewart, A. Francis / Dymecki, Susan M. et al. | 2000
- 141
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Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndromeChavanas, Stéphane / Bodemer, Christine / Rochat, Ariane / Hamel-Teillac, Dominique / Ali, Mohsin / Irvine, Alan D. / Bonafé, Jean-Louis / Wilkinson, John / Taïeb, Alain / Barrandon, Yann et al. | 2000
- 143
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Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutationsWatnick, Terry / He, Ning / Wang, Kairong / Liang, Yan / Parfrey, Patrick / Hefferton, Donna / St George-Hyslop, Peter / Germino, Gregory / Pei, York et al. | 2000
- 144
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Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogeneAlbertson, Donna G. / Ylstra, Bauke / Segraves, Richard / Collins, Colin / Dairkee, Shanaz H. / Kowbel, David / Kuo, Wen-Lin / Gray, Joe W. / Pinkel, Daniel et al. | 2000
- 147
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Computer-based three-dimensional visualization of developmental gene expressionStreicher, Johannes / Donat, Markus A. / Strauss, Bernhard / Spörle, Ralf / Schughart, Klaus / Müller, Gerd B. et al. | 2000
- 153
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Missense mutations interfere with VEGFR-3 signalling in primary lymphoedemaKarkkainen, Marika J. / Ferrell, Robert E. / Lawrence, Elizabeth C. / Kimak, Mark A. / Levinson, Kara L. / McTigue, Michele A. / Alitalo, Kari / Finegold, David N. et al. | 2000
- 160
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Identification of the familial cylindromatosis tumour-suppressor geneBignell, Graham R. / Warren, William / Seal, Sheila / Takahashi, Meiko / Rapley, Elizabeth / Barfoot, Rita / Green, Helen / Brown, Carolanne / Biggs, Patrick J. / Lakhani, Sunil R. et al. | 2000
- 166
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Plzf regulates limb and axial skeletal patterningBarna, Maria / Hawe, Nicola / Niswander, Lee / Pandolfi, Pier Paolo et al. | 2000
- 173
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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndromeMénasché, Gaël / Pastural, Elodie / Feldmann, Jérôme / Certain, Stéphanie / Ersoy, Fügen / Dupuis, Sophie / Wulffraat, Nico / Bianchi, Diana / Fischer, Alain / Le Deist, Françoise et al. | 2000
- 177
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Features of systemic lupus erythematosus in Dnase1-deficient miceNapirei, Markus / Karsunky, Holger / Zevnik, Branko / Stephan, Harald / Mannherz, Hans Georg / Möröy, Tarik et al. | 2000
- 182
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Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiencyNetchine, Irène / Sobrier, Marie-Laure / Krude, Heiko / Schnabel, Dirk / Maghnie, Mohamed / Marcos, Elisabeth / Duriez, Bénédicte / Cacheux, Valère / Moers, Arpard v. / Goossens, Michel et al. | 2000
- 187
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TLR4 mutations are associated with endotoxin hyporesponsiveness in humansArbour, Nancy C. / Lorenz, Eva / Schutte, Brian C. / Zabner, Joseph / Kline, Joel N. / Jones, Michael / Frees, Kathy / Watt, Janet L. / Schwartz, David A. et al. | 2000
- 192
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Homologous recombination is responsible for cell death in the absence of the Sgs1 and Srs2 helicasesGangloff, Serge / Soustelle, Christine / Fabre, Francis et al. | 2000
- 195
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Mice deficient for δ- and μ-opioid receptors exhibit opposing alterations of emotional responsesFilliol, Dominique / Ghozland, Sandy / Chluba, Johanna / Martin, Miguel / Matthes, Hans W.D. / Simonin, Frédéric / Befort, Katia / Gavériaux-Ruff, Claire / Dierich, Andrée / LeMeur, Marianne et al. | 2000
- 195
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Mice deficient for delta- and mu-opioid receptors exhibit opposing alterations of emotional responsesFilliol, D. / Ghozland, S. / Chluba, J. / Martin, M. / Matthes, H. W. D. / Simonin, F. / Befort, K. / Gaveriaux-Ruff, C. / Dierich, A. / LeMeur, M. et al. | 2000
- 201
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More than 1,000 putative new human signalling proteins revealed by EST data miningSchultz, Jörg / Doerks, Tobias / Ponting, Chris P. / Copley, Richard R. / Bork, Peer et al. | 2000
- 205
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Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determinationGripp, Karen W. / Wotton, David / Edwards, Michael C. / Roessler, Erich / Ades, Lesley / Meinecke, Peter / Richieri-Costa, Antonio / Zackai, Elaine H. / Massagué, Joan / Muenke, Maximilian et al. | 2000
- 209
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Gata3 loss leads to embryonic lethality due to noradrenaline deficiency of the sympathetic nervous systemLim, Kim-Chew / Lakshmanan, Ganesh / Crawford, Susan E. / Gu, Yi / Grosveld, Frank / Douglas Engel, James et al. | 2000
- 213
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Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitisWitt, Heiko / Luck, Werner / Hennies, Hans Christian / Claßen, Martin / Kage, Andreas / Laß, Ulrich / Landt, Olfert / Becker, Michael et al. | 2000
- 217
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Gene transfer by lentiviral vectors is limited by nuclear translocation and rescued by HIV-1 pol sequencesFollenzi, Antonia / Ailles, Laurie E. / Bakovic, Silvia / Geuna, Massimo / Naldini, Luigi et al. | 2000
- 223
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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticumLe Saux, Olivier / Urban, Zsolt / Tschuch, Cordula / Csiszar, Katalin / Bacchelli, Barbara / Quaglino, Daniela / Pasquali-Ronchetti, Ivonne / Pope, F. Michael / Richards, Allan / Terry, Sharon et al. | 2000
- 228
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Mutations in ABCC6 cause pseudoxanthoma elasticumBergen, Arthur A.B. / Plomp, Astrid S. / Schuurman, Ellen J. / Terry, Sharon / Breuning, Martijn / Dauwerse, Hans / Swart, Jaap / Kool, Marcel / van Soest, Simone / Baas, Frank et al. | 2000
- 232
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Analysis of expressed sequence tags indicates 35,000 human genesEwing, Brent / Green, Phil et al. | 2000
- 235
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Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequenceRoest Crollius, Hugues / Jaillon, Olivier / Bernot, Alain / Dasilva, Corinne / Bouneau, Laurence / Fischer, Cécile / Fizames, Cécile / Wincker, Patrick / Brottier, Philippe / Quétier, Francis et al. | 2000
- 239
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Gene Index analysis of the human genome estimates approximately 120,000 genesLiang, Feng / Holt, Ingeborg / Pertea, Geo / Karamycheva, Svetlana / Salzberg, Steven L. / Quackenbush, John et al. | 2000
- 243
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A focus on function| 2000
- 245
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Restoration of compact discsSakmar, Thomas P et al. | 2000
- 246
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A look at linkage disequilibriumBoehnke, Michael et al. | 2000
- 248
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The labyrinthine placentaRinkenberger, Julie / Werb, Zena et al. | 2000
- 248
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Meiotic machinationsKeeney, Scott et al. | 2000
- 253
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Eugenics—evolutionary nonsense?Brosius, Jürgen / Kreitman, Martin et al. | 2000
- 254
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Hepatocyte migration during liver development requires Prox1Sosa-Pineda, Beatriz / Wigle, Jeffrey T. / Oliver, Guillermo et al. | 2000
- 255
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Mitochondrial DNA heteroplasmy in cloned cattle produced by fetal and adult cell cloningSteinborn, Ralf / Schinogl, Pamela / Zakhartchenko, Valeri / Achmann, Roland / Schernthaner, Wolfgang / Stojkovic, Miodrag / Wolf, Eckhard / Müller, Mathias / Brem, Gottfried et al. | 2000
- 257
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ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophyMolday, Laurie L. / Rabin, Arnold R. / Molday, Robert S. et al. | 2000
- 259
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Genetic testing and quality control in diagnostic laboratoriesDequeker, Elisabeth / Cassiman, Jean-Jacques et al. | 2000
- 261
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DNA property ritesvan Ommen, Gertjan B. et al. | 2000
- 263
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Mitotic replication initiation proteins are not required for pre-meiotic S phaseForsburg, Susan L. / Hodson, Jeffrey A. et al. | 2000
- 269
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DNMT1 binds HDAC2 and a new co-repressor, DMAP1, to form a complex at replication fociRountree, Michael R. / Bachman, Kurtis E. / Baylin, Stephen B. et al. | 2000
- 279
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Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive mannerGalloway, Susan M. / McNatty, Kenneth P. / Cambridge, Lisa M. / Laitinen, Mika P.E. / Juengel, Jennifer L. / Jokiranta, T. Sakari / McLaren, Robert J. / Luiro, Kaisu / Dodds, Ken G. / Montgomery, Grant W. et al. | 2000
- 284
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Social amnesia in mice lacking the oxytocin geneFerguson, Jennifer N. / Young, Larry J. / Hearn, Elizabeth F. / Matzuk, Martin M. / Insel, Thomas R. / Winslow, James T. et al. | 2000
- 289
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Genetic basis of total colourblindness among the Pingelapese islandersSundin, Olof H. / Yang, Jun-Ming / Li, Yingying / Zhu, Danping / Hurd, Jane N. / Mitchell, Thomas N. / Silva, Eduardo D. / Maumenee, Irene Hussels et al. | 2000
- 294
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Gene-expression profile of the ageing brain in miceLee, Cheol-Koo / Weindruch, Richard / Prolla, Tomas A. et al. | 2000
- 298
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Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanismAvela, Kristiina / Lipsanen-Nyman, Marita / Idänheimo, Niina / Seemanová, Eva / Rosengren, Sally / Mäkelä, Tomi P. / Perheentupa, Jaakko / Chapelle, Albert de la / Lehesjoki, Anna-Elina et al. | 2000
- 302
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Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligaseShimura, Hideki / Hattori, Nobutaka / Kubo, Shin-ichiro / Mizuno, Yoshikuni / Asakawa, Shuichi / Minoshima, Shinsei / Shimizu, Nobuyoshi / Iwai, Kazuhiro / Chiba, Tomoki / Tanaka, Keiji et al. | 2000
- 306
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Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapyAli, Robin R. / Sarra, Gian-Marco / Stephens, Clare / Alwis, Mahesh de / Bainbridge, James W.B. / Munro, Peter M. / Fauser, Sascha / Reichel, Martin B. / Kinnon, Christine / Hunt, David M. et al. | 2000
- 311
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The glial cells missing-1 protein is essential for branching morphogenesis in the chorioallantoic placentaAnson-Cartwright, Lynn / Dawson, Kerri / Holmyard, Doug / Fisher, Susan J. / Lazzarini, Robert A. / Cross, James C. et al. | 2000
- 315
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Epigenetic inactivation of a RAS association domain family protein from the lung tumour suppressor locus 3p21.3Dammann, Reinhard / Li, Chun / Yoon, Jung-Hoon / Chin, Philip L. / Bates, Steven / Pfeifer, Gerd P. et al. | 2000
- 320
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The genetically isolated populations of Finland and Sardinia may not be a panacea for linkage disequilibrium mapping of common disease genesEaves, Iain A. / Merriman, Tony R. / Barber, Rachael A. / Nutland, Sarah / Tuomilehto-Wolf, Eva / Tuomilehto, Jaakko / Cucca, Francesco / Todd, John A. et al. | 2000
- 324
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Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28Taillon-Miller, Patricia / Bauer-Sardiña, Irma / Saccone, Nancy L. / Putzel, Jenna / Laitinen, Tarja / Cao, Antonio / Kere, Juha / Pilia, Giuseppe / Rice, John P. / Kwok, Pui-Yan et al. | 2000
- 329
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Syndecan-1 is required for Wnt-1-induced mammary tumorigenesis in miceAlexander, Caroline M. / Reichsman, Frieda / Hinkes, Michael T. / Lincecum, John / Becker, Klaus A. / Cumberledge, Susan / Bernfield, Merton et al. | 2000
- 333
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Widespread aneuploidy revealed by DNA microarray expression profilingHughes, Timothy R. / Roberts, Christopher J. / Dai, Hongyue / Jones, Allan R. / Meyer, Michael R. / Slade, David / Burchard, Julja / Dow, Sally / Ward, Teresa R. / Kidd, Matthew J. et al. | 2000
- 338
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DNMT1 forms a complex with Rb, E2F1 and HDAC1 and represses transcription from E2F-responsive promotersRobertson, Keith D. / Ait-Si-Ali, Slimane / Yokochi, Tomoki / Wade, Paul A. / Jones, Peter L. / Wolffe, Alan P. et al. | 2000
- 343
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Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosisFrattini, Annalisa / Orchard, Paul J. / Sobacchi, Cristina / Giliani, Silvia / Abinun, Mario / Mattsson, Jan P. / Keeling, David J. / Andersson, Ann-Katrin / Wallbrandt, Pia / Zecca, Luigi et al. | 2000
- 347
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Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeresZhu, Xu-Dong / Küster, Bernhard / Mann, Matthias / Petrini, John H.J. / Lange, Titia de et al. | 2000
- 353
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A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2Svensson, Eric C. / Huggins, Gordon S. / Lin, Hua / Clendenin, Cynthia / Jiang, Fang / Tufts, Rachel / Dardik, Fred B. / Leiden, Jeffrey M. et al. | 2000
- 357
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Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cystsPaloneva, Juha / Kestilä, Marjo / Wu, Jun / Salminen, Antti / Böhling, Tom / Ruotsalainen, Vesa / Hakola, Panu / Bakker, Alexander B.H. / Phillips, Joseph H. / Pekkarinen, Petra et al. | 2000
- 363
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The end of the beginning| 2000
- 365
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Hunting in the calm before the stormBates, Gillian / Eberwine, James et al. | 2000
- 366
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Tailoring vectors through DNA shufflingCuriel, David T et al. | 2000
- 368
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Subdividing the metamere: one signal, two outcomesStern, Claudio D et al. | 2000
- 373
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Genetic homogeneity of Icelanders: fact or fiction?Árnason, Einar / Sigurgíslason, Hlynur / Benedikz, Eiríkur et al. | 2000
- 373
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Of sex and genderHaig, David et al. | 2000
- 375
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Hot-stop PCR: a simple and general assay for linear quantitation of allele ratiosUejima, Hiroshi / Lee, Maxwell P. / Cui, Hengmi / Feinberg, Andrew P. et al. | 2000
- 376
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The NOTCH4 locus is associated with susceptibility to schizophreniaWei, Jun / Hemmings, Gwynneth P. et al. | 2000
- 379
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How it all happenedStoneking, Mark et al. | 2000
- 381
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The roads from phenotypic variation to gene discovery: mutagenesis versus QTLsNadeau, Joseph H. / Frankel, Wayne N. et al. | 2000
- 385
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Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicityLi, He / Li, Shi-Hua / Johnston, Heather / Shelbourne, Peggy F. / Li, Xiao-Jiang et al. | 2000
- 390
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Mesp2 initiates somite segmentation through the Notch signalling pathwayTakahashi, Yu / Koizumi, Ken-ichi / Takagi, Atsuya / Kitajima, Satoshi / Inoue, Tohru / Koseki, Haruhiko / Saga, Yumiko et al. | 2000
- 397
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Human microphthalmia associated with mutations in the retinal homeobox gene CHX10Ferda Percin, E. / Ploder, Lynda A. / Yu, Jessica J. / Arici, Kemal / Jonathan Horsford, D. / Rutherford, Adam / Bapat, Bharati / Cox, Diane W. / Duncan, Alessandra M.V. / Kalnins, Vitauts I. et al. | 2000
- 402
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Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau proteinLewis, Jada / McGowan, Eileen / Rockwood, Julia / Melrose, Heather / Nacharaju, Parimala / Van Slegtenhorst, Marjon / Gwinn-Hardy, Katrina / Murphy, M. P / Baker, Matt / Yu, Xin et al. | 2000
- 406
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EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndromeDelépine, Marc / Nicolino, Marc / Barrett, Timothy / Golamaully, Mahamadee / Mark Lathrop, G. / Julier, Cécile et al. | 2000
- 406
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EiF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndromeDelepine, M. / Nicolino, M. / Barrett, T. / Golamaully, M. / Lathrop, G. M. / Julier, C. et al. | 2000
- 410
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Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzeesHuttley, Gavin A. / Easteal, Simon / Southey, Melissa C. / Tesoriero, Andrea / Giles, Graham G. / McCredie, Margaret R.E. / Hopper, John L. / Venter, Deon J. et al. | 2000
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Ryk-deficient mice exhibit craniofacial defects associated with perturbed Eph receptor crosstalkHalford, Michael M. / Armes, Jane / Buchert, Michael / Meskenaite, Virginia / Grail, Dianne / Hibbs, Margaret L. / Wilks, Andrew F. / Farlie, Peter G. / Newgreen, Don F. / Hovens, Christopher M. et al. | 2000
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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2Afzal, Ali R. / Rajab, Anna / Fenske, Christiane D. / Oldridge, Michael / Elanko, Navaratnam / Ternes-Pereira, Eliana / Tüysüz, Beyhan / Murday, Victoria A. / Patton, Michael A. / Wilkie, Andrew O.M. et al. | 2000
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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndromevan Bokhoven, Hans / Celli, Jacopo / Kayserili, Hülya / van Beusekom, Ellen / Balci, Sevim / Brussel, Wim / Skovby, Flemming / Kerr, Bronwyn / Percin, E. Ferda / Akarsu, Nurten et al. | 2000
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Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasiaSuzuki, Koji / Hu, Diane / Bustos, Tania / Zlotogora, Joel / Richieri-Costa, Antonio / Helms, Jill A. / Spritz, Richard A. et al. | 2000
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Control of neurulation by the nucleosome assembly protein-1–like 2Rogner, Ute C. / Spyropoulos, Demetri D. / Le Novère, Nicolas / Changeux, Jean-Pierre / Avner, Philip et al. | 2000
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Spermiogenesis and exchange of basic nuclear proteins are impaired in male germ cells lacking Camk4Wu, Joy Y. / Ribar, Thomas J. / Cummings, David E. / Burton, Kimberly A. / McKnight, G. Stanley / Means, Anthony R. et al. | 2000
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Insertion of Inhbb into the Inhba locus rescues the Inhba-null phenotype and reveals new activin functionsBrown, Chester W. / Houston-Hawkins, Dianne E. / Woodruff, Teresa K. / Matzuk, Martin M. et al. | 2000
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Efficient and accurate replication in the presence of 7,8-dihydro-8-oxoguanine by DNA polymerase ηHaracska, Lajos / Yu, Sung-Lim / Johnson, Robert E. / Prakash, Louise / Prakash, Satya et al. | 2000
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Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosaVervoort, Raf / Lennon, Alan / Bird, Alan C. / Tulloch, Brian / Axton, Richard / Miano, Maria G. / Meindl, Alfons / Meitinger, Thomas / Ciccodicola, Alfredo / Wright, Alan F. et al. | 2000