Anatomía patolóxia
Servizo
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (9)
2023
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Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
Journal of Clinical Medicine, Vol. 12, Núm. 7
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Paediatric-onset generalized pustular psoriasis secondary to myeloperoxidase mutations
Clinical and experimental dermatology, Vol. 48, Núm. 2, pp. 130-132
2017
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Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer
Gastroenterology, Vol. 152, Núm. 5, pp. 983-986.e6
2016
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Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene
Brain and Development, Vol. 38, Núm. 1, pp. 167-172
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Erratum: Corrigendum to “Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene” (Brain and Development (2016) 38(1) (167–172) (S0387760415001023) (10.1016/j.braindev.2015.05.008))
Brain and Development
2015
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Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations
International Journal of Cancer, Vol. 137, Núm. 8, pp. 1870-1878
2014
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Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion
European Journal of Paediatric Neurology, Vol. 18, Núm. 6, pp. 796-800
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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
2011
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Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant
Journal of Child Neurology, Vol. 26, Núm. 6, pp. 734-737