Four novel MSH2 / MLH1 gene mutations in Portuguese HNPCC families (original) (raw)
Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer
ramin haghighi
International Journal of Colorectal Disease, 2009
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Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain
Iciar Carbonero
International journal of cancer. Journal international du cancer, 2002
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Molecular characterization of the spectrum of genomic deletions in the mismatch repair genesMSH2,MLH1,MSH6, andPMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)
Juul Wijnen
Genes, Chromosomes and Cancer, 2005
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Germline and somatic mutation analyses in the DNA mismatch repair geneMLH3: Evidence for somatic mutation in colorectal cancers
Daniel Stoler
Human Mutation, 2001
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Evaluation of MLH1 and MSH2 Gene Mutations in a Subset of Iranian Families with Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
Mansoor Salehi
Journal of Sciences, …, 2009
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Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer
Michael Bergmann, Judith Karner-hanusch
Wiener klinische Wochenschrift, 2005
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A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations
Karmele Mujika
Familial Cancer, 2009
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Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer
Stephan Haas
Human …, 2002
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Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer
Irene Marcos
Journal of Pediatrics, 2006
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Germline mutations inMLH1,MSH2 andMSH6 in Korean hereditary non-polyposis colorectal cancer families
Jae-Gahb Park
Human Mutation, 2004
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Deletions Account for 17% of Pathogenic Germline Alterations in MLH1 and MSH2 in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Families
Udo Koehler
Genetic Testing, 2005
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Hereditary Nonpolyposis Colorectal Cancer Families Not Complying with the Amsterdam Criteria Show Extremely Low Frequency of Mismatch-Repair-Gene Mutations
Adri Mulder
The American Journal of Human Genetics, 1997
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Hereditary nonpolyposis colorectal cancer: Identification of novel germline mutations in two kindreds not fulfilling the Amsterdam criteria
Bernardo Garicochea, Raul Cutait
Human Mutation, 1998
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Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach
paulo fidalgo
European Journal of Human Genetics, 2000
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Assay Validation for Identification of Hereditary Nonpolyposis Colon Cancer-Causing Mutations in Mismatch Repair Genes MLH1, MSH2, and MSH6
Belinda Chong
The Journal of Molecular Diagnostics, 2005
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Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes
Silvano Presciuttini
Genes, Chromosomes and Cancer, 1997
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Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer
Harry Hollema
Gut, 2006
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A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability
Oana Caluseriu
Journal of Medical Genetics, 2004
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Immunohistochemistry Identifies Carriers of Mismatch Repair Gene Defects Causing Hereditary Nonpolyposis Colorectal Cancer
Jaran Apold
Journal of Clinical Oncology, 2005
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Two germline alterations in mismatch repair genes found in a HNPCC patient with poor family history
Enikô Kámory, Judit Olasz
Pathology & Oncology Research, 2006
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Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1
Richard Kolodner
Journal of Medical Genetics, 2000
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Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC)
G. Baretton
Human Mutation, 2000
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