Found: 55
Select item for more details and to access through your institution.
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 8, p. 737, doi. 10.1002/gcc.20678
- By:
- Publication type:
- Article
Do microsatellite instability profiles really differ between colorectal and endometrial tumors?
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 7, p. 552, doi. 10.1002/gcc.20664
- By:
- Publication type:
- Article
PMS2 involvement in patients suspected of Lynch syndrome.
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 4, p. 322, doi. 10.1002/gcc.20642
- By:
- Publication type:
- Article
Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome.
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 4, p. 340, doi. 10.1002/gcc.20644
- By:
- Publication type:
- Article
MUTYH and the mismatch repair system: partners in crime?
- Published in:
- Human Genetics, 2006, v. 119, n. 1/2, p. 206, doi. 10.1007/s00439-005-0118-5
- By:
- Publication type:
- Article
MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer.
- Published in:
- International Journal of Cancer, 2001, v. 92, n. 3, p. 398, doi. 10.1002/ijc.1206
- By:
- Publication type:
- Article
Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2303, doi. 10.1093/hmg/ddh238
- By:
- Publication type:
- Article
Charles Buys (1942-2014).
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1343, doi. 10.1038/ejhg.2014.207
- By:
- Publication type:
- Article
Colorectal cancer and the CHEK2 1100delC mutation.
- Published in:
- Genes, Chromosomes & Cancer, 2005, v. 43, n. 4, p. 377, doi. 10.1002/gcc.20195
- By:
- Publication type:
- Article
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
- Published in:
- Prenatal Diagnosis, 2020, v. 40, n. 10, p. 1300, doi. 10.1002/pd.5781
- By:
- Publication type:
- Article
BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes.
- Published in:
- Oncogene, 2005, v. 24, n. 24, p. 3995, doi. 10.1038/sj.onc.1208569
- By:
- Publication type:
- Article
Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 577, doi. 10.1038/ejhg.2011.226
- By:
- Publication type:
- Article
Accuracy of family history of cancer: clinical genetic implications.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 181, doi. 10.1038/sj.ejhg.5200441
- By:
- Publication type:
- Article
ASO Visual Abstract: Surgical Oncologists and Nurses in Breast Cancer Care are Ready to Provide Pre-Test Genetic Counseling.
- Published in:
- 2023
- By:
- Publication type:
- Abstract
<em>RET</em> Mutation Screening in Familial Cutaneous Lichen Amyloidosis and in Skin Amyloidosis Associated With Multiple Endocrine Neoplasia.
- Published in:
- Journal of Investigative Dermatology, 1996, v. 107, n. 2, p. 215, doi. 10.1111/1523-1747.ep12329651
- By:
- Publication type:
- Article
Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives.
- Published in:
- Familial Cancer, 2024, v. 23, n. 2, p. 165, doi. 10.1007/s10689-024-00377-0
- By:
- Publication type:
- Article
Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction.
- Published in:
- 1992
- By:
- Publication type:
- journal article
Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients.
- Published in:
- Journal of Pathology, 2009, v. 219, n. 1, p. 96, doi. 10.1002/path.2573
- By:
- Publication type:
- Article
Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co‐occurring FANCC and CHEK2 mutations.
- Published in:
- British Journal of Haematology, 2019, v. 184, n. 6, p. 1071, doi. 10.1111/bjh.15265
- By:
- Publication type:
- Article
A role for MLH3 in hereditary nonpolyposis colorectal cancer.
- Published in:
- Nature Genetics, 2001, v. 29, n. 2, p. 137, doi. 10.1038/ng1001-137
- By:
- Publication type:
- Article
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.782685
- By:
- Publication type:
- Article
Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.824510
- By:
- Publication type:
- Article
NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.
- Published in:
- BMC Bioinformatics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12859-018-2557-8
- By:
- Publication type:
- Article
B Cells as Prognostic Biomarker After Surgery for Colorectal Liver Metastases.
- Published in:
- Frontiers in Oncology, 2020, v. 10, p. 1, doi. 10.3389/fonc.2020.00249
- By:
- Publication type:
- Article
Cell-free assay breakthrough for MLH1 variants.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. v, doi. 10.1002/humu.21217
- By:
- Publication type:
- Article
Sharing data between LSDBs and central repositories.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 493, doi. 10.1002/humu.20977
- By:
- Publication type:
- Article
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.
- Published in:
- Human Mutation, 2008, v. 29, n. 11, p. 1273, doi. 10.1002/humu.20889
- By:
- Publication type:
- Article
A database to support the interpretation of human mismatch repair gene variants.
- Published in:
- 2008
- By:
- Publication type:
- Other
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1047, doi. 10.1002/humu.20580
- By:
- Publication type:
- Article
Getting rid of the PMS2 pseudogenes: mission impossible?
- Published in:
- Human Mutation, 2007, v. 28, n. 4, p. 414, doi. 10.1002/humu.20447
- By:
- Publication type:
- Article
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
- Published in:
- Cancers, 2019, v. 11, n. 8, p. 1114, doi. 10.3390/cancers11081114
- By:
- Publication type:
- Article
Comprehensive Profiling of Primary and Metastatic ccRCC Reveals a High Homology of the Metastases to a Subregion of the Primary Tumour.
- Published in:
- Cancers, 2019, v. 11, n. 6, p. 812, doi. 10.3390/cancers11060812
- By:
- Publication type:
- Article
CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.
- Published in:
- Human Mutation, 2016, v. 37, n. 5, p. 457, doi. 10.1002/humu.22969
- By:
- Publication type:
- Article
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
- Published in:
- Human Mutation, 2015, v. 36, n. 7, p. 712, doi. 10.1002/humu.22798
- By:
- Publication type:
- Article
High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors.
- Published in:
- Human Mutation, 2014, v. 35, n. 12, p. 1442, doi. 10.1002/humu.22686
- By:
- Publication type:
- Article
New Target Genes in Endometrial Tumors Show a Role for the Estrogen-Receptor Pathway in Microsatellite-Unstable Cancers.
- Published in:
- Human Mutation, 2014, v. 35, n. 12, p. 1514, doi. 10.1002/humu.22700
- By:
- Publication type:
- Article
Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics.
- Published in:
- Human Mutation, 2013, v. 34, n. 7, p. 1035, doi. 10.1002/humu.22332
- By:
- Publication type:
- Article
A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED- CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing.
- Published in:
- Human Mutation, 2013, v. 34, n. 7, p. 967, doi. 10.1002/humu.22316
- By:
- Publication type:
- Article
Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 255, doi. 10.1002/humu.22214
- By:
- Publication type:
- Article
Next-Gen Databasing Links Mutations with Prognosis and Clinical Outcome.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. v, doi. 10.1002/humu.21318
- By:
- Publication type:
- Article
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
- Published in:
- 2010
- By:
- Publication type:
- Other
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2 : A Prospective Lynch Syndrome Database Study.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 13, p. 2856, doi. 10.3390/jcm10132856
- By:
- Publication type:
- Article
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2290, doi. 10.3390/jcm9072290
- By:
- Publication type:
- Article
Evaluation of a seven gene mutational profile as a prognostic factor in a population-based study of clear cell renal cell carcinoma.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10455-x
- By:
- Publication type:
- Article
Evaluation of a seven gene mutational profile as a prognostic factor in a population-based study of clear cell renal cell carcinoma.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10455-x
- By:
- Publication type:
- Article
Impact of Drug-Gene-Interaction, Drug-Drug-Interaction, and Drug-Drug-Gene-Interaction on (es)Citalopram Therapy: The PharmLines Initiative.
- Published in:
- Journal of Personalized Medicine, 2020, v. 10, n. 4, p. 256, doi. 10.3390/jpm10040256
- By:
- Publication type:
- Article
GAVIN: Gene-Aware Variant INterpretation for medical sequencing.
- Published in:
- Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-016-1141-7
- By:
- Publication type:
- Article
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement.
- Published in:
- Hereditary Cancer in Clinical Practice, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s13053-023-00263-3
- By:
- Publication type:
- Article
The common sense model of self-regulation and psychological adjustment to predictive genetic testing: a prospective study.
- Published in:
- Psycho-Oncology, 2007, v. 16, n. 12, p. 1121, doi. 10.1002/pon.1178
- By:
- Publication type:
- Article
A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships.
- Published in:
- Psycho-Oncology, 2007, v. 16, n. 4, p. 320, doi. 10.1002/pon.1062
- By:
- Publication type:
- Article