Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Fundación Jiménez Díaz
Madrid, EspañaPublicacións en colaboración con investigadores/as de Fundación Jiménez Díaz (13)
2024
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SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
Database : the journal of biological databases and curation, Vol. 2024
2023
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Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
British Journal of Cancer, Vol. 128, Núm. 12, pp. 2283-2294
2022
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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
Clinical genetics, Vol. 101, Núm. 5-6, pp. 481-493
2018
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Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1
American Journal of Kidney Diseases, Vol. 72, Núm. 3, pp. 411-418
2015
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Translational value of animal models of kidney failure
European Journal of Pharmacology, Vol. 759, pp. 205-220
2014
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FAS system deregulation in T-cell lymphoblastic lymphoma
Cell Death and Disease, Vol. 5, Núm. 3
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Involvement of LCA5 in leber congenital amaurosis and retinitis pigmentosa in the Spanish population
Ophthalmology, Vol. 121, Núm. 1, pp. 399-407
2013
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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082
2011
2010
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Association study of 44 candidate genes with depressive and anxiety symptoms in post-partum women
Journal of Psychiatric Research, Vol. 44, Núm. 11, pp. 717-724
2009
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Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 150, Núm. 6, pp. 808-816
2003
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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
Human Mutation, Vol. 22, Núm. 4, pp. 301-312
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Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations
European Journal of Human Genetics