Publicacións en colaboración con investigadores/as de Fundación Jiménez Díaz (12)

2023

  1. 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

  1. 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

  1. 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

  1. Translational value of animal models of kidney failure

    European Journal of Pharmacology, Vol. 759, pp. 205-220

2014

  1. FAS system deregulation in T-cell lymphoblastic lymphoma

    Cell Death and Disease, Vol. 5, Núm. 3

  2. Involvement of LCA5 in leber congenital amaurosis and retinitis pigmentosa in the Spanish population

    Ophthalmology, Vol. 121, Núm. 1, pp. 399-407

2013

  1. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

    Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082

2011

  1. Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

    BMC Medical Genetics, Vol. 12

2010

  1. 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

  1. 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

  1. 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

  2. Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations

    European Journal of Human Genetics