Digestivo
Servicio
Publicaciones en las que colabora con Ángel Carracedo Álvarez (31)
2024
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Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry
Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264
2023
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BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis
Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5
2019
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Early colorectal cancers provide new evidence for a lynch syndrome-to-CMMRD phenotypic continuum
Cancers, Vol. 11, Núm. 8
2017
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Candidate predisposing germline copy number variants in early onset colorectal cancer patients
Clinical and Translational Oncology, Vol. 19, Núm. 5, pp. 625-632
2016
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Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC)
Carcinogenesis, Vol. 37, Núm. 8, pp. 751-758
2015
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Exome-wide pharmacogenomic analysis of response to thiopurines in inflammatory bowel disease patients
Current Pharmacogenomics and Personalized Medicine, Vol. 13, Núm. 1, pp. 61-67
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Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
Journal of Medical Genetics, Vol. 52, Núm. 7, pp. 498-502
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Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11
Applied and Translational Genomics, Vol. 5, pp. 33-36
2014
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A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer
Human Genetics, Vol. 133, Núm. 5, pp. 525-534
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High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families
Clinical Genetics, Vol. 85, Núm. 6, pp. 583-588
2013
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A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
BMC Genomics, Vol. 14, Núm. 1
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BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern european populations
Carcinogenesis, Vol. 34, Núm. 2, pp. 314-318
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BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency
Clinical Genetics
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Corrigendum
Carcinogenesis
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Genetic susceptibility variants associated with colorectal cancer prognosis
Carcinogenesis, Vol. 34, Núm. 10, pp. 2286-2291
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New genetic associations in thiopurine-related bone marrow toxicity among inflammatory bowel disease patients
Pharmacogenomics, Vol. 14, Núm. 6, pp. 631-640
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Risk of cancer in cases of suspected lynch syndrome without germline mutation
Gastroenterology, Vol. 144, Núm. 5
2012
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'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization
Brain, Vol. 135, Núm. 5, pp. 1423-1435
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Actualización en la base genética de las distonías
Revista española de trastornos del movimiento, Vol. 4, Núm. 4, pp. 22-32
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COGENT (COlorectal cancer GENeTics) revisited
Mutagenesis, Vol. 27, Núm. 2, pp. 143-151