Facultade de Medicina e Odontoloxía
Facultad
David Geffen School of Medicine at UCLA
Los Ángeles, Estados UnidosPublicacións en colaboración con investigadores/as de David Geffen School of Medicine at UCLA (40)
2024
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Agreement between local and central anti-synthetase antibodies detection: results from the Classification Criteria of Anti-Synthetase Syndrome project biobank
Clinical and experimental rheumatology, Vol. 42, Núm. 2, pp. 277-287
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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Genetics in Medicine, Vol. 26, Núm. 4
2022
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Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
PLoS genetics, Vol. 18, Núm. 11, pp. e1010367
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331
2021
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A 300 IR sublingual tablet is an effective, safe treatment for house dust mite–induced allergic rhinitis: An international, double-blind, placebo-controlled, randomized phase III clinical trial
Journal of Allergy and Clinical Immunology, Vol. 147, Núm. 3, pp. 1020-1030.e10
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Breast cancer risk genes - Association analysis in more than 113,000 women
New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439
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Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk
Journal of the National Cancer Institute, Vol. 113, Núm. 3, pp. 329-337
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Pituitary Neoplasm Nomenclature Workshop: Does Adenoma Stand the Test of Time?
Journal of the Endocrine Society, Vol. 5, Núm. 3
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TIPICO XI: report of the first series and podcast on infectious diseases and vaccines (aTIPICO)
Human Vaccines and Immunotherapeutics, Vol. 17, Núm. 11, pp. 4299-4327
2020
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A consensus on the diagnosis and treatment of acromegaly comorbidities: An update
Journal of Clinical Endocrinology and Metabolism, Vol. 105, Núm. 4, pp. E937-E946
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Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Scientific Reports, Vol. 10, Núm. 1
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Multidisciplinary management of acromegaly: A consensus
Reviews in Endocrine and Metabolic Disorders, Vol. 21, Núm. 4, pp. 667-678
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The tale in evolution: clarity, consistency and consultation, not contradiction and confusion
Pituitary
2019
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A tale of pituitary adenomas: to NET or not to NET: Pituitary Society position statement
Pituitary, Vol. 22, Núm. 6, pp. 569-573
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Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)
Nature Genetics
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Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Nature Genetics, Vol. 51, Núm. 3, pp. 414-430
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Genome-wide association study of germline variants and breast cancer-specific mortality
British Journal of Cancer, Vol. 120, Núm. 6, pp. 647-657
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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106
2017
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Association analysis identifies 65 new breast cancer risk loci
Nature, Vol. 551, Núm. 7678, pp. 92-94