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Gabriel Capellá

idibell
H指数:82
被引数:2.7万

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Constitutional epimutations in LTBP4, a component of the TGF-β signaling, and in BRCA1, as potential drivers of early-onset colorectal cancer

TGF-β信号通路组分LTBP4和BRCA1的体细胞表观遗传修饰,作为早发性结直肠癌的潜在驱动因素

2025-11-070
OAAI
Gene-Specific Detection Rate of Adenomas and Advanced Adenomas in Lynch Syndrome

林奇综合征中腺瘤和高级别腺瘤的基因特异性检出率

2025-04-300
PRE
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
2024-11-012
OAAI
SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
2024-07-041
OAAI
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency

经过验证的高度敏感的微卫星不稳定性分析可准确识别在体质错配修复缺陷中携带双等位基因种系PMS2致病性变异的个体

2024-03-261
OA
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/ Polyposis Variant Curation Expert Panel
2024-02-018
OA
Survival outcomes in phase I trial combining VCN-01 and durvalumab (MEDI4736) in subjects with recurrent/ metastatic head and neck squamous cell carcinoma refractory to previous immunotherapy treatment
2023-10-010
PRE
Highly Sensitive Microsatellite Instability and Immunohistochemistry Assessment in Endometrial Aspirates as a Tool for Cancer Risk Individualization in Lynch Syndrome

子宫内膜抽吸物中高度敏感的微卫星不稳定性和免疫组织化学评估作为Lynch综合征癌症风险个体化的工具

2023-07-013
PRE
Wnt genes in colonic polyposis predisposition
2023-05-011
OAAI