Servizo
Xenética
Artigos (29) Publicacións nas que participase algún/ha investigador/a
2017
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A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
American Journal of Human Genetics, Vol. 101, Núm. 1, pp. 87-103
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Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
PLoS ONE, Vol. 12, Núm. 8
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Adenosine A 2A receptor regulation of microglia morphological remodeling-gender bias in physiology and in a model of chronic anxiety
Molecular Psychiatry, Vol. 22, Núm. 7, pp. 1035-1043
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Association analysis identifies 65 new breast cancer risk loci
Nature, Vol. 551, Núm. 7678, pp. 92-94
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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
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Clinical features and long-term progression of reticular pseudodrusen in agerelated macular degeneration: Findings from a multicenter cohort
Eye (Basingstoke), Vol. 31, Núm. 3, pp. 364-371
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Diabetic Choroidopathy: Choroidal Vascular Density and Volume in Diabetic Retinopathy With Swept-Source Optical Coherence Tomography
American Journal of Ophthalmology, Vol. 184, pp. 75-83
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Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants
Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313
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Functional and structural findings of neurodegeneration in early stages of diabetic retinopathy: Cross-sectional analyses of baseline data of the EUROCONDOR project
Diabetes, Vol. 66, Núm. 9, pp. 2503-2510
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Genetic analysis in post-mortem samples with micro-ischemic alterations
Forensic Science International, Vol. 271, pp. 120-125
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Gene–environment interactions involving functional variants: Results from the Breast Cancer Association Consortium
International Journal of Cancer, Vol. 141, Núm. 9, pp. 1830-1840
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Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility
Nature Communications, Vol. 8, Núm. 1
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778
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Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
American Journal of Human Genetics, Vol. 101, Núm. 6, pp. 985-994
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Multi-centre assessment of nitroblue tetrazolium reactivity in human semen as a potential marker of oxidative stress
Reproductive BioMedicine Online, Vol. 34, Núm. 5, pp. 513-521
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PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36
Movement Disorders, Vol. 32, Núm. 2, pp. 264-273
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PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia
Clinical Genetics, Vol. 92, Núm. 5, pp. 534-539
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POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer
Oncotarget, Vol. 8, Núm. 16, pp. 26732-26743
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Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection
International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219
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Prevalence of spinocerebellar ataxia 36 in a US population
Neurology: Genetics, Vol. 3, Núm. 4