Publications by the researcher in collaboration with GUIOMAR PÉREZ DE NANCLARES LEAL (71)

2023

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

    Frontiers in Genetics, Vol. 14

  2. 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

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

  3. Prenatal and foetal autopsy findings in glutaric aciduria type II

    Birth Defects Research, Vol. 112, Núm. 19, pp. 1738-1749

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. 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