Medicina Xenómica
GMX - USC
![Foto de Alejandro](/img/nophoto.png)
Alejandro
Brea Fernández
Publicacións nas que colabora con Alejandro Brea Fernández (20)
2023
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Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders
Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306
2022
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Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
European Journal of Human Genetics, Vol. 30, Núm. 8, pp. 938-945
2019
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Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders
American Journal of Medical Genetics, Part A, Vol. 179, Núm. 2, pp. 290-294
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
2015
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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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Susceptibilidad genética al cáncer colorrectal y a la respuesta al tratamiento quimioterápico
Abordaje multidisciplinar de cáncer colorrectal (Andavira), pp. 411-424
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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Pharmacogenomics in colorectal cancer: A genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration
Pharmacogenomics Journal, Vol. 13, Núm. 3, pp. 209-217
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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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Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer
Gut, Vol. 61, Núm. 6, pp. 865-872
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Seeking genetic susceptibility variants for colorectal cancer: The EPICOLON consortium experience
Mutagenesis, Vol. 27, Núm. 2, pp. 153-159
2011
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An update of in Silico tools for the prediction of pathogenesis in Missense variants
Current Bioinformatics, Vol. 6, Núm. 2, pp. 185-198
2010
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Colorectal cancer susceptibility quantitative trait loci in mice as a novel approach to detect low-penetrance variants in humans: A two-stage case-control study
Cancer Epidemiology Biomarkers and Prevention, Vol. 19, Núm. 2, pp. 619-623
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Single nucleotide polymorphisms in the wnt and bmp pathways and colorectal cancer risk in a spanish cohort
PLoS ONE, Vol. 5, Núm. 9, pp. 1-9
2008
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Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa
British Journal of Ophthalmology, Vol. 92, Núm. 10, pp. 1419-1423