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Material Type: Artigo
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Genetic variation and covariation for characteristics associated with cadmium tolerance in natural populations of the springtail Orchesella cinta (L.)Posthuma, Leo ; Hogervorst, Rene F ; Joosse, Els N G ; Van Straalen, Nico MEvolution, 1993-04, Vol.47 (2), p.619 [Periódico revisado por pares]St. Louis: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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A non-BRCA1/2 hereditary breast cancer sub-group defined by aCGH profiling of genetically related patientsDidraga, M. A. ; van Beers, E. H. ; Joosse, S. A. ; Brandwijk, K. I. M. ; Oldenburg, R. A. ; Wessels, L. F. A. ; Hogervorst, F. B. L. ; Ligtenberg, M. J. ; Hoogerbrugge, N. ; Verhoef, S. ; Devilee, P. ; Nederlof, P. M.Breast cancer research and treatment, 2011-11, Vol.130 (2), p.425-436 [Periódico revisado por pares]Boston: Springer USTexto completo disponível |
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Material Type: Artigo
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Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset ParkinsonismBonifati, Vincenzo ; Rizzu, Patrizia ; van Baren, Marijke J. ; Schaap, Onno ; Breedveld, Guido J. ; Krieger, Elmar ; Marieke C. J. Dekker ; Squitieri, Ferdinando ; Ibanez, Pablo ; Joosse, Marijke ; van Dongen, Jeroen W. ; Vanacore, Nicola ; van Swieten, John C. ; Brice, Alexis ; Meco, Giuseppe ; van Duijn, Cornelia M. ; Oostra, Ben A. ; Heutink, PeterScience (American Association for the Advancement of Science), 2003-01, Vol.299 (5604), p.256-259 [Periódico revisado por pares]Washington, DC: American Association for the Advancement of ScienceTexto completo disponível |
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Material Type: Artigo
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Disruption of a Long-Range Cis-Acting Regulator for Shh Causes Preaxial PolydactylyLettice, Laura A. ; Horikoshi, Taizo ; Simon J. H. Heaney ; van Baren, Marijke J. ; van der Linde, Herma C. ; Breedveld, Guido J. ; Joosse, Marijke ; Akarsu, Nurten ; Oostra, Ben A. ; Endo, Naoto ; Shibata, Minoru ; Suzuki, Mikio ; Takahashi, Eiichi ; Shinka, Toshikatsu ; Nakahori, Yutaka ; Ayusawa, Dai ; Nakabayashi, Kazuhiko ; Scherer, Stephen W. ; Heutink, Peter ; Hill, Robert E. ; Noji, SumihareProceedings of the National Academy of Sciences - PNAS, 2002-05, Vol.99 (11), p.7548-7553 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosisNjajou, Omer T ; Vaessen, Norbert ; Joosse, Marijke ; Berghuis, Bianca ; van Dongen, Jeroen W.F ; Breuning, Martijn H ; Snijders, Pieter J.L.M ; Rutten, Wim P.F ; Sandkuijl, Lodewijk A ; Oostra, Ben A ; van Duijn, Cornelia M ; Heutink, PeterNature genetics, 2001-07, Vol.28 (3), p.213-214 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket : a multi-modal approachTISCHKOWITZ, Marc ; HAMEL, Nancy ; GRIST, Scott A ; FAB, Kcon ; NEDERLOF, Petra M ; GOLDGAR, David E ; TAVTIGIAN, Sean V ; MONTEIRO, Alvaro N ; LADIAS, John A. A ; FOULKES, William D ; CARVALHO, Marcelo A ; BIRRANE, Gabriel ; SONI, Aditi ; VAN BEERS, Erik H ; JOOSSE, Simon A ; WONG, Nora ; NOVAK, David ; QUENNEVILLE, Louise AEuropean journal of human genetics : EJHG, 2008-07, Vol.16 (7), p.820-832 [Periódico revisado por pares]Avenel, NJ: Nature PublishingTexto completo disponível |