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1 |
Material Type: Artigo
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MLH1 methylation screening is effective in identifying epimutation carriersPINEDA, Marta ; MUR, Pilar ; BRUNET, Joan ; NAVARRO, Matilde ; BLANCO, Ignacio ; CAPELLA, Gabriel ; INIESTA, Maria Dolores ; BORRAS, Ester ; CAMPOS, Olga ; VARGAS, Gardenia ; IGLESIAS, Silvia ; FERNANDEZ, Anna ; GRUBER, Stephen B ; LAZARO, ConxiEuropean journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1256-1264 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCCMORAK, Monika ; SCHACKERT, Hans Konrad ; KELLER, Gisela ; KERKER, Brigitte ; LEITNER, Gertraud ; HOLINSKI-FEDER, Elke ; RAHNER, Nils ; BETZ, Beate ; EBERT, Matthias ; WALLDORF, Constanze ; ROYER-POKORA, Brigitte ; SCHULMANN, Karsten ; VON KNEBEL-DOEBERITZ, Magnus ; DIETMAIER, WolfgangEuropean journal of human genetics : EJHG, 2008-07, Vol.16 (7), p.804-811 [Periódico revisado por pares]Avenel, NJ: Nature PublishingTexto completo disponível |
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Material Type: Artigo
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Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1KRÜGER, Stefan ; KINZEL, Miriam ; KÖLBLE, Konrad ; BÜTTNER, Reinhard ; SCHACKERT, Hans K ; WALLDORF, Constanze ; GOTTSCHLING, Sven ; BIER, Andrea ; TINSCHERT, Sigrid ; VON STACKELBERG, Arend ; HENN, Wolfram ; GÖRGENS, Heike ; BOUE, StephanieEuropean journal of human genetics : EJHG, 2008-01, Vol.16 (1), p.62-72 [Periódico revisado por pares]Avenel, NJ: Nature PublishingTexto completo disponível |
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Material Type: Artigo
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Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriersHOULLE, Solene ; CHARBONNIER, Françoise ; HOUIVET, Estelle ; TINAT, Julie ; BUISINE, Marie-Pierre ; CARON, Olivier ; BENICHOU, Jacques ; BAERT-DESURMONT, Stéphanie ; FREBOURG, ThierryEuropean journal of human genetics : EJHG, 2011-08, Vol.19 (8), p.887-892 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Estimating cancer risk in HNPCC by the GRL methodALARCONL, Flora ; LASSET, Christine ; CARAYOL, Jérome ; BONADONA, Valérie ; PERDRY, Hervé ; DESSEIGNE, Francoise ; QING WANG ; BONAÏTI-PELLIE, CatherineEuropean journal of human genetics : EJHG, 2007-08, Vol.15 (8), p.831-836 [Periódico revisado por pares]Avenel, NJ: Nature PublishingTexto completo disponível |
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Material Type: Artigo
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MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancerREEVES, Stuart G ; MELDRUM, Cliff ; GROOMBRIDGE, Claire ; SPIGELMAN, Allan D ; SUCHY, Janina ; KURZAWSKI, Grzegorz ; LUBINSKI, Jan ; MCELDUFF, Patrick ; SCOTT, Rodney JEuropean journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.629-635 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndromeGIUNTI, Laura ; CETICA, Valentina ; GENITORI, Lorenzo ; GENUARDI, Maurizio ; RICCI, Ugo ; GIGLIO, Sabrina ; SARDI, Iacopo ; PAGLIERANI, Milena ; ANDREUCCI, Elena ; SANZO, Massimiliano ; FORNI, Marco ; BUCCOLIERO, Anna MariaEuropean journal of human genetics : EJHG, 2009-07, Vol.17 (7), p.919-927 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
8 |
Material Type: Artigo
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Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumorPLASCHKE, Jens ; LINNEBACHER, Michael ; KLOOR, Matthias ; GEBERT, Johannes ; CREMER, Friedrich W ; TINSCHERT, Sigrid ; AUST, Daniela E ; VON KNEBEL DOEBERITZ, Magnus ; SCHACKERT, Hans KEuropean journal of human genetics : EJHG, 2006-05, Vol.14 (5), p.561-566 [Periódico revisado por pares]Avenel, NJ: Nature PublishingTexto completo disponível |
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Material Type: Artigo
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Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional featuresBELVEDERESI, Laura ; BIANCHI, Francesca ; PORFIRI, Emilio ; LORETELLI, Cristian ; GAGLIARDINI, Daniela ; GALIZIA, Eva ; BRACCI, Raffaella ; ROSATI, Saverio ; BEARZI, Italo ; VIEL, Alessandra ; CELLERINO, RiccardoEuropean journal of human genetics : EJHG, 2006-07, Vol.14 (7), p.853-859 [Periódico revisado por pares]Avenel, NJ: Nature PublishingTexto completo disponível |
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Material Type: Artigo
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Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2KETS, Carolien M ; HOOGERBRUGGE, Nicoline ; VAN KRIEKEN, Joannes H. J. M ; GOOSSENS, Monique ; BRUNNER, Han G ; LIGTENBERG, Marjolijn J. LEuropean journal of human genetics : EJHG, 2009-02, Vol.17 (2), p.159-164 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |