Publikationen in Zusammenarbeit mit Forschern von Hospital de Cruces (58)

2023

  1. Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

    Frontiers in Genetics, Vol. 14

2022

  1. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366

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

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

  2. Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

    Frontiers in Neurology, Vol. 11

2014

  1. Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation

    Neuromuscular Disorders, Vol. 24, Núm. 1, pp. 56-62

2013

  1. Endocrine profile and phenotype-(Epi)genotype correlation in Spanish patients with pseudohypoparathyroidism

    Journal of Clinical Endocrinology and Metabolism, Vol. 98, Núm. 5

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

  2. Familial hypocalciuric hypercalcemia: New mutation in the CASR gene converting valine 697 to methionine

    European Journal of Pediatrics, Vol. 171, Núm. 1, pp. 147-150

  3. 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

  4. Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene

    PLoS ONE, Vol. 7, Núm. 1

2011

  1. Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?

    Journal of Bone and Mineral Research, Vol. 26, Núm. 8, pp. 1854-1863

  2. Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

    Journal of Bone and Mineral Research, Vol. 26, Núm. 8, pp. 1864-1870

2010

  1. 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

  2. Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: Case report

    Journal of Pediatric Endocrinology and Metabolism, Vol. 23, Núm. 8, pp. 827-830

  3. 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

  4. 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

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

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

  6. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 7, pp. 3105-3110