169 results on '"Capella, Gabriel"'
Search Results
2. Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
3. Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data
4. Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence
5. Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated 'Big Bang' pathway to CRC in three of the four Lynch syndromes
6. Use of multi-gene panels in patients at high risk of hereditary digestive cancer: Position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium
7. Uso de paneles de genes en pacientes con alto riesgo de cáncer digestivo hereditario: documento de posicionamiento de la AEG, SEOM, AEGH y consorcio IMPaCT-GENÓMICA
8. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
9. Highly Sensitive Microsatellite Instability and Immunohistochemistry Assessment in Endometrial Aspirates as a Tool for Cancer Risk Individualization in Lynch Syndrome
10. MLH1-methylated endometrial cancer under 60 years of age as the “sentinel” cancer in female carriers of high-risk constitutional MLH1 epimutation
11. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
12. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
13. Lessons learnt from the implementation of a colorectal cancer screening programme for lynch syndrome in a tertiary public hospital
14. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
15. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
16. Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD
17. Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome
18. Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases.
19. Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?
20. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
21. Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes
22. Oncolytic adenovirus with hyaluronidase activity that evades neutralizing antibodies: VCN-11
23. Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
24. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
25. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
26. Expression and Role of MicroRNAs from the miR-200 Family in the Tumor Formation and Metastatic Propensity of Pancreatic Cancer
27. Organochlorine Exposure and Colorectal Cancer Risk
28. Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing
29. Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
30. Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
31. Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer.
32. Tumor growth delay by adjuvant alternating electric fields which appears non-thermally mediated
33. KRAS-G12C Mutation Is Associated with Poor Outcome in Surgically Resected Lung Adenocarcinoma
34. Usefulness of epithelial cell adhesion molecule expression in the algorithmic approach to Lynch syndrome identification
35. Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database
36. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
37. Constant Common-Mode Voltage Strategies Using Sigma–Delta Modulators in Five-Phase VSI.
38. An optimized predictor panel for colorectal cancer diagnosis based on the combination of tumor-associated antigens obtained from protein and phage microarrays
39. Human papillomavirus is not associated with colorectal cancer in a large international study
40. Jagged1 Is the Pathological Link between Wnt and Notch Pathways in Colorectal Cancer
41. Mutational Load Distribution Analysis Yields Metrics Reflecting Genetic Instability during Pancreatic Carcinogenesis
42. Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis
43. Allele-Specific Expression of APC in Adenomatous Polyposis Families
44. Simultaneous Genotyping of GSTT1 and GSTM1 Null Polymorphisms by Melting Curve Analysis in Presence of SYBR Green I
45. Novel Methylation Panel for the Early Detection of Colorectal Tumors in Stool DNA
46. Frequency and Spectrum of Mutations at Codons 12 and 13 of the C-K-ras Gene in Human Tumors
47. Common-Mode Voltage Mitigation Strategies Using Sigma–Delta Modulation in Five-Phase VSIs.
48. CLEAR-test: Combining inference for differential expression and variability in microarray data analysis
49. Colorectal cancer intrinsic subtypes predict chemotherapy benefit, deficient mismatch repair and epithelial-to-mesenchymal transition
50. High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers
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