Publicacions en col·laboració amb investigadors/es de Universidad del País Vasco/Euskal Herriko Unibertsitatea (29)

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2019

  1. Impaired proteostasis in rare neurological diseases

    Seminars in Cell and Developmental Biology, Vol. 93, pp. 164-177

2018

  1. Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: A case report 06 Biological Sciences 0604 Genetics

    BMC Medical Genomics, Vol. 11, Núm. 1

  2. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

  1. The p.R56* mutation in PTHLH causes variable brachydactyly type E

    American Journal of Medical Genetics, Part A

2012

  1. Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

    Clinical Endocrinology, Vol. 76, Núm. 5, pp. 719-724

2010

  1. Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype-genotype correlations

    American Journal of Medical Genetics, Part A

  2. Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

    Journal of Medical Genetics, Vol. 47, Núm. 4, pp. 276-280

  3. Heterozygous glucokinase mutations and birth weight in Spanish children

    Diabetic Medicine

  4. Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: Potential for misdiagnosis of pseudohypoparathyroidism type 1B

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 765-771

  5. Neonatal diabetes caused by mutations in sulfonylurea receptor 1: Interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 12

  6. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962

2007

  1. Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4

    Genes and Immunity, Vol. 8, Núm. 2, pp. 171-176

  2. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

    Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 6, pp. 2370-2373

  3. Mutations in GCK and HNF-1α explain the majority of cases with clinical diagnosis of MODY in Spain

    Clinical Endocrinology, Vol. 67, Núm. 4, pp. 538-546

  4. The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

    Diabetic Medicine, Vol. 24, Núm. 7, pp. 707-713

  5. Two-year follow-up of anti-transglutaminase autoantibodies among celiac children on gluten-free diet: Comparison of IgG and IgA

    Autoimmunity, Vol. 40, Núm. 2, pp. 117-121

2006

  1. Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease

    Genes and Immunity, Vol. 7, Núm. 7, pp. 550-554

  2. Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress

    Journal of Clinical Endocrinology and Metabolism, Vol. 91, Núm. 5, pp. 1832-1841