Publications by the researcher in collaboration with GUIOMAR PÉREZ DE NANCLARES LEAL (70)

2023

  1. Variations and different perceptions in vitamin D supplementation in the pediatric age in Spain

    Pediatria de Atencion Primaria, Vol. 25, Núm. 97, pp. e1-e13

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

  3. Libro blanco de la Covid-19

2020

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

    Frontiers in Neurology, Vol. 11

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

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. Aspectos clínicos en dos casos de seudohipoparatiroidismo ( i a y i b) y estudio molecular del locus GNAS

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 79, Núm. 5, pp. 319-324

  2. Brachydactyly E: Isolated or as a feature of a syndrome

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

  3. 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

  3. Hipercalcemia hipocalciúrica familiar: a propósito de una nueva mutación

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 74, Núm. 1, pp. 47-50

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