371 results on '"Ruiz-Ponte, Clara"'
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2. 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
3. A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
4. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis
5. Contributors
6. Genetic susceptibility to CRC
7. Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer
8. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
9. A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
10. A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
11. Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13
12. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins
13. Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer.
14. Reply
15. Integración de ómicas para la identificación de nuevos genes de susceptibilidad hereditaria a cáncer colorrectal
16. Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula
17. Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia
18. Germline mutations inWNK2could be associated with serrated polyposis syndrome
19. Chapter 45 - Genetic susceptibility to CRC
20. Susceptibility Genetic Variants Associated With Colorectal Cancer Risk Correlate With Cancer Phenotype
21. Erratum: Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia
22. Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations
23. Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
24. A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS
25. Exome Sequencing of Early-Onset Patients Supports Genetic Heterogeneity in Colorectal Cancer
26. Association of MUTYH and MSH6 germline mutations in colorectal cancer patients
27. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
28. Re: Role of the Oxidative DNA Damage Repair Gene OGG1 in Colorectal Tumorigenesis
29. Germline mutations in WNK2could be associated with serrated polyposis syndrome
30. Ligneous conjunctivitis: a clinicopathological, immunohistochemical, and genetic study including the treatment of two sisters with multiorgan involvement
31. Colorectal Cancer Genetic Variants Are Also Associated with Serrated Polyposis Syndrome Susceptibility
32. Systematic meta-Analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer
33. Genetic susceptibility variants associated with colorectal cancer prognosis
34. Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals
35. BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations
36. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer
37. Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience
38. Susceptibility genetic variants associated with early-onset colorectal cancer
39. Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer
40. A Collaborative Effort to Define Classification Criteria forATMVariants in Hereditary Cancer Patients
41. Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
42. Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk
43. Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer
44. Intestinal Clear Cell Sarcoma With Melanocytic Differentiation and Extraskeletal Myxoid Chondrosarcoma Rearrangement: Report of a Case
45. Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer
46. Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES)
47. Early colorectal cancers provide new evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum
48. Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula
49. The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications
50. Rare HRAS1 alleles are a risk factor for the development of brain tumors
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