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Polymorphisms of the NADPH Oxidase p22phox Gene in a Caucasian Population with Intracranial Aneurysms.
- Published in:
- Cerebrovascular Diseases, 2003, v. 16, n. 4, p. 363, doi. 10.1159/000072558
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- Publication type:
- Article
An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis.
- Published in:
- Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0051-8
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- Publication type:
- Article
Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.
- Published in:
- Journal of Pathology, 2015, v. 236, n. 2, p. 155, doi. 10.1002/path.4520
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- Publication type:
- Article
Preventive surgery for colon cancer in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer syndrome.
- Published in:
- Langenbeck's Archives of Surgery, 2003, v. 388, n. 1, p. 9, doi. 10.1007/s00423-003-0364-8
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- Publication type:
- Article
Gene therapy and gastrointestinal cancer: concepts and clinical facts.
- Published in:
- Langenbeck's Archives of Surgery, 1999, v. 384, n. 5, p. 479, doi. 10.1007/s004230050234
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- Publication type:
- Article
Systemic immunity against a murine colon tumor (CT-26) produced by immunization with syngeneic cells expressing a transfected viral gene product.
- Published in:
- International Journal of Cancer, 1989, v. 43, n. 5, p. 823, doi. 10.1002/ijc.2910430514
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- Publication type:
- Article
Quantitative Differences between Aberrant Transcripts Which Occur as Common Isoforms and due to Mutation-based Exon Skipping of the Mismatch Repair Gene hMLH1.
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- Clinical Chemistry & Laboratory Medicine, 1999, v. 37, n. 9, p. 883
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- Publication type:
- Article
N-Acetyltransferase (NAT) 2 acetylator status and age of tumour onset in patients with sporadic and familial, microsatellite stable (MSS) colorectal cancer.
- Published in:
- International Journal of Colorectal Disease, 2007, v. 22, n. 2, p. 137, doi. 10.1007/s00384-006-0171-0
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- Publication type:
- Article
Combined molecular and clinical approach for decision making for surgery in HNPCC patients: a report on three cases in two families.
- Published in:
- International Journal of Colorectal Disease, 2001, v. 16, n. 6, p. 402, doi. 10.1007/s003840100349
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- Publication type:
- Article
Clinical consequences of molecular diagnosis in families with mismatch repair gene germline mutations.
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- International Journal of Colorectal Disease, 2000, v. 15, n. 5/6, p. 255, doi. 10.1007/s003840000261
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- Publication type:
- Article
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
- Published in:
- Scientific Reports, 2015, p. 14060, doi. 10.1038/srep14060
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- Publication type:
- Article
Association Between TAS2R38 Gene Polymorphisms and Colorectal Cancer Risk: A Case-Control Study in Two Independent Populations of Caucasian Origin.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020464
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- Publication type:
- Article
Microsatellite instability of selective target genes in HNPCC-associated colon adenomas.
- Published in:
- Oncogene, 2005, v. 24, n. 15, p. 2525, doi. 10.1038/sj.onc.1208456
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- Publication type:
- Article
Complete homozygous deletion of CTSC in an Iranian family with Papillon- Lefèvre syndrome.
- Published in:
- International Journal of Dermatology, 2014, v. 53, n. 7, p. 885, doi. 10.1111/j.1365-4632.2012.05769.x
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- Publication type:
- Article
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 5, p. 587, doi. 10.1038/ejhg.2008.26
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- Publication type:
- Article
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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- European Journal of Human Genetics, 2008, v. 16, n. 1, p. 62, doi. 10.1038/sj.ejhg.5201923
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- Publication type:
- Article
Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 561, doi. 10.1038/sj.ejhg.5201568
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- Publication type:
- Article
The role of endothelial nitric oxide synthase (eNOS) genetic variants in European patients with intracranial aneurysms.
- Published in:
- Journal of Cerebral Blood Flow & Metabolism, 2006, v. 26, n. 10, p. 1250, doi. 10.1038/sj.jcbfm.9600284
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- Publication type:
- Article
Analysis of RET, ZEB2, EDN3 and GDNF Genomic Rearrangements in Central Congenital Hyperventilation Syndrome Patients by Multiplex Ligation-dependent Probe Amplification.
- Published in:
- Annals of Human Genetics, 2010, v. 74, n. 4, p. 369, doi. 10.1111/j.1469-1809.2010.00577.x
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- Publication type:
- Article
Activation of Wnt signalling in stroma from pancreatic cancer identified by gene expression profiling.
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- Journal of Cellular & Molecular Medicine, 2008, v. 12, n. 6b, p. 2823, doi. 10.1111/j.1582-4934.2008.00289.x
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- Publication type:
- Article
Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3.
- Published in:
- Carcinogenesis, 2014, v. 35, n. 2, p. 315, doi. 10.1093/carcin/bgt344
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- Publication type:
- Article
Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility.
- Published in:
- Carcinogenesis, 2010, v. 31, n. 9, p. 1612, doi. 10.1093/carcin/bgq146
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- Publication type:
- Article
Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer.
- Published in:
- International Journal of Cancer, 2006, v. 118, n. 1, p. 115, doi. 10.1002/ijc.21313
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- Publication type:
- Article
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
- Published in:
- International Journal of Cancer, 2005, v. 116, n. 5, p. 692, doi. 10.1002/ijc.20863
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- Publication type:
- Article
Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.
- Published in:
- International Journal of Cancer, 2002, v. 97, n. 5, p. 643, doi. 10.1002/ijc.10097
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- Publication type:
- Article
Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.
- Published in:
- International Journal of Cancer, 2000, v. 85, n. 5, p. 606, doi. 10.1002/(SICI)1097-0215(20000301)85:5<606::AID-IJC2>3.0.CO;2-B
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- Publication type:
- Article
Independent Molecular Development of Metachronous Glioblastomas with Extended Intervening Recurrence-free Interval.
- Published in:
- Brain Pathology, 2003, v. 13, n. 4, p. 598, doi. 10.1111/j.1750-3639.2003.tb00488.x
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- Publication type:
- Article
Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndrome.
- Published in:
- International Journal of Cancer, 2021, v. 148, n. 1, p. 106, doi. 10.1002/ijc.33294
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- Publication type:
- Article
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
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- International Journal of Cancer, 2018, v. 143, n. 11, p. 2800, doi. 10.1002/ijc.31725
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- Publication type:
- Article
Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: A comprehensive analysis of 3,671 families.
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- International Journal of Cancer, 2014, v. 135, n. 1, p. 69, doi. 10.1002/ijc.28650
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- Publication type:
- Article
An American founder mutation in MLH1.
- Published in:
- International Journal of Cancer, 2012, v. 130, n. 9, p. 2088, doi. 10.1002/ijc.26233
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- Publication type:
- Article
Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients.
- Published in:
- International Journal of Cancer, 2011, v. 129, n. 7, p. 1635, doi. 10.1002/ijc.25821
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- Publication type:
- Article
Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer.
- Published in:
- Genes, Chromosomes & Cancer, 2016, v. 55, n. 11, p. 855, doi. 10.1002/gcc.22385
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- Publication type:
- Article
Identification of microsatellite instability and mismatch repair gene mutations in breast cancer cell lines.
- Published in:
- Genes, Chromosomes & Cancer, 2003, v. 37, n. 1, p. 29, doi. 10.1002/gcc.10196
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- Publication type:
- Article
Reduced mRNA expression in paraffin-embedded tissue identifies MLH1- and MSH2-deficient colorectal tumours and potential mutation carriers.
- Published in:
- 2008
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- Publication type:
- journal article
Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study.
- Published in:
- BMC Gastroenterology, 2010, v. 10, p. 112, doi. 10.1186/1471-230X-10-112
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- Publication type:
- Article
Mutational status of KIT and PDGFRA and expression of PDGFRA are not associated with prognosis after curative resection of primary gastrointestinal stromal tumors (GISTs).
- Published in:
- Journal of Surgical Oncology, 2011, v. 104, n. 1, p. 59, doi. 10.1002/jso.21905
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- Publication type:
- Article
Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.
- Published in:
- Human Mutation, 2004, v. 24, n. 4, p. 351, doi. 10.1002/humu.9278
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- Publication type:
- Article
Molecular Mechanisms Associated with Chromosomal and Microsatellite Instability in Sporadic Glioblastoma multiforme.
- Published in:
- Oncology, 2004, v. 66, n. 5, p. 395, doi. 10.1159/000079488
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- Publication type:
- Article
Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3207, doi. 10.1093/hmg/ddg354
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- Publication type:
- Article
Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue (Communicated by Daniel Schorderet) Online Citation: Human Mutation, Mutation in Brief #688 (2004) Online http://www3.interscience.wiley.com/homepages/38515/pdf/mutation/688.pdf)
- Published in:
- Human Mutation, 2004, v. 23, n. 3, p. 285
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- Publication type:
- Article
Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #632 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/632.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 177, doi. 10.1002/humu.9161
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- Publication type:
- Article
Novel intronic polymorphisms in the RET proto?oncogene and their association with Hirschsprung diseaseCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #632 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/632.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 177, doi. 10.1002/humu.9161
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- Publication type:
- Article
Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method (Communicated by Arupa Ganguly) Online Citation: Human Mutation, Mutation in Brief #625 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/625.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 103, doi. 10.1002/humu.9154
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- Publication type:
- Article
Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi‐quantitative multiplex PCR methodCommunicated by Arupa GangulyOnline Citation: Human Mutation, Mutation in Brief #625 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/625.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 103, doi. 10.1002/humu.9154
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- Publication type:
- Article
Identification of six novel MSH2 and MLH1 germline mutations in HNPCC (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #592 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/592.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 445, doi. 10.1002/humu.9121
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- Publication type:
- Article
Identification of six novel MSH2 and MLH1 germline mutations in HNPCCCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #592 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/592.pdf.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 445, doi. 10.1002/humu.9121
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- Publication type:
- Article
Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer.
- Published in:
- Human Mutation, 2002, v. 19, n. 1, p. 82, doi. 10.1002/humu.9004
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- Publication type:
- Article
Identification of a novel germline mutation in a FAP family.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1167
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- Publication type:
- Article
Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer.
- Published in:
- 2012
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- Publication type:
- Case Study