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Refinado por: Nome da Publicação: European Journal Of Human Genetics : Ejhg remover assunto: Mutation remover General Aspects. Genetic Counseling remover
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1
Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications
Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications
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Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications

LYNCH, Henry T ; BOLAND, C. Richard ; GONG, Gordon ; SHAW, Trudy G ; LYNCH, Patrick M ; FODDE, Riccardo ; LYNCH, Jane F ; DE LA CHAPELLE, Albert

European journal of human genetics : EJHG, 2006-04, Vol.14 (4), p.390-402 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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2
MLH1 methylation screening is effective in identifying epimutation carriers
MLH1 methylation screening is effective in identifying epimutation carriers
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MLH1 methylation screening is effective in identifying epimutation carriers

PINEDA, 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, Conxi

European journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1256-1264 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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3
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC
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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 HNPCC

MORAK, 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, Wolfgang

European journal of human genetics : EJHG, 2008-07, Vol.16 (7), p.804-811 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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4
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1
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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 1

KRÜGER, 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, Stephanie

European journal of human genetics : EJHG, 2008-01, Vol.16 (1), p.62-72 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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5
Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers
Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers
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Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers

HOULLE, Solene ; CHARBONNIER, Françoise ; HOUIVET, Estelle ; TINAT, Julie ; BUISINE, Marie-Pierre ; CARON, Olivier ; BENICHOU, Jacques ; BAERT-DESURMONT, Stéphanie ; FREBOURG, Thierry

European journal of human genetics : EJHG, 2011-08, Vol.19 (8), p.887-892 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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6
Estimating cancer risk in HNPCC by the GRL method
Estimating cancer risk in HNPCC by the GRL method
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Estimating cancer risk in HNPCC by the GRL method

ALARCONL, Flora ; LASSET, Christine ; CARAYOL, Jérome ; BONADONA, Valérie ; PERDRY, Hervé ; DESSEIGNE, Francoise ; QING WANG ; BONAÏTI-PELLIE, Catherine

European journal of human genetics : EJHG, 2007-08, Vol.15 (8), p.831-836 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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7
MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer
MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer
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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 cancer

REEVES, Stuart G ; MELDRUM, Cliff ; GROOMBRIDGE, Claire ; SPIGELMAN, Allan D ; SUCHY, Janina ; KURZAWSKI, Grzegorz ; LUBINSKI, Jan ; MCELDUFF, Patrick ; SCOTT, Rodney J

European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.629-635 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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8
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome
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Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome

GIUNTI, Laura ; CETICA, Valentina ; GENITORI, Lorenzo ; GENUARDI, Maurizio ; RICCI, Ugo ; GIGLIO, Sabrina ; SARDI, Iacopo ; PAGLIERANI, Milena ; ANDREUCCI, Elena ; SANZO, Massimiliano ; FORNI, Marco ; BUCCOLIERO, Anna Maria

European journal of human genetics : EJHG, 2009-07, Vol.17 (7), p.919-927 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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9
Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor
Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor
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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 tumor

PLASCHKE, Jens ; LINNEBACHER, Michael ; KLOOR, Matthias ; GEBERT, Johannes ; CREMER, Friedrich W ; TINSCHERT, Sigrid ; AUST, Daniela E ; VON KNEBEL DOEBERITZ, Magnus ; SCHACKERT, Hans K

European journal of human genetics : EJHG, 2006-05, Vol.14 (5), p.561-566 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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10
Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion
Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion
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Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion

PASTRELLO, Chiara ; BAGLIONI, Silvana ; TIBILETTI, Maria Grazia ; PAPI, Laura ; FORNASARIG, Mara ; MORABITO, Alberto ; AGOSTINI, Marco ; GENUARDI, Maurizio ; VIEL, Alessandra

European journal of human genetics : EJHG, 2006-01, Vol.14 (1), p.63-68 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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