183 results on '"Velasco, Eladio A"'
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2. Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer
3. Splicing predictions, minigene analyses, and ACMG ‐ AMP clinical classification of 42 germlinePALB2splice‐site variants
4. Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer
5. New role of Beta2-chimaerin in the regulation of glucose homeostasis
6. Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons
7. Genotype–phenotype correlation in MMR mutation-positive families with Lynch syndrome
8. RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants
9. Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer
10. International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
11. Two founder BRCA2 mutations predispose to breast cancer in young women
12. Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
13. Prevalence of CYP2C9 polymorphisms in the south of Europe
14. Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants
15. The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins
16. Association between bat vitamin D receptor 30 haplotypes and vitamin D levels at baseline and a lower response after increased vitamin D supplementation and exposure to sunlight
17. High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain)
18. Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene
19. Editorial: RNA Splicing and Backsplicing: Disease and Therapy
20. Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants.
21. Association Between Bat Vitamin D Receptor 3′ Haplotypes and Vitamin D Levels at Baseline and a Lower Response After Increased Vitamin D Supplementation and Exposure to Sunlight
22. UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays
23. Identification of a truncated β1-chimaerin variant that inactivates nuclear Rac1
24. Identification of a truncated β1-chimaerin variant that inactivates nuclear Rac1
25. Classification of 15 new BRCA2 exons2-9 splicing variants by hybrid minigenes
26. Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15
27. Mis‐splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays
28. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report
29. Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling
30. BRCA2 mis-splicing: exons 17 and 18 regulation
31. BRCA 2 mis-splicing: regulación de los exones 17 y 18
32. Identification and characterization of a novel isoform of ß-chimaerins with nuclear localization
33. Caracterización funcional de variantes candidatas de splicing en genes de susceptibilidad mediante minigenes híbridos: PALB2
34. Análisis funcionales confirman la patogenicidad de una variante de splicing en el gen CHD7 hallada mediante secuenciación masiva
35. Back Cover, Volume 39, Issue 9
36. Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing:BRCA2c.7976+5G > T as a case study
37. Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays
38. Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants
39. Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome
40. Functional characterization of DNA variants from exons 17 and 18 of the BRCA2 gene
41. Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q
42. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18
43. Caracterización funcional de mutaciones reguladoras en el promotor de BRCA2 en cáncer de mama y ovario hereditario
44. Clasificación funcional y clínica de variantes de ADN del gen BRCA2 mediante minigenes híbridos
45. Construcción de un minigen híbrido para el estudio de mutaciones de splicing en los exones 17 y 18 de BRCA2
46. Splicing functional assays of a BRCA1 minigene with exons 15-19
47. Estudios funcionales de splicing de los exones 16 y 17 de BRCA1 mediante minigenes híbridos
48. New splicing vector pSAD: Splicing functional analysis of a hybrid 'maxi-minigene' with exons 19 to 27 of BRCA2
49. Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
50. The Effect of Genistein Supplementation on Vitamin D Levels and Bone Turnover Markers during the Summer in Healthy Postmenopausal Women: Role of Genotypes of Isoflavone Metabolism.
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