Publicaciones en las que colabora con GUIOMAR PEREZ DE NANCLARES LEAL (76)

2024

  1. Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune–Albright Syndrome (FD/MAS)

    Genes, Vol. 15, Núm. 1

2023

  1. Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value

    Journal of neuropathology and experimental neurology, Vol. 82, Núm. 2, pp. 169-179

  2. Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2

    Frontiers in Endocrinology, Vol. 13

  3. New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

    Frontiers in Genetics, Vol. 14

  4. 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. Familial endometrial adenocarcinoma: MSH6 variant of unknown significance in the presence of phenocopy, what should be done?

    Revista Espanola de Patologia, Vol. 55, pp. S16-S20

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

  4. Sporadic Creutzfeldt–Jakob disease with extremely long 14-year survival period

    European Journal of Neurology, Vol. 28, Núm. 9, pp. 2901-2906

2020

  1. Glucose and galactose malabsorption: A new case in Spain

    Anales de Pediatria, Vol. 92, Núm. 2, pp. 104-105

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

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

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

2017

  1. Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene

    Pediatric Dermatology, Vol. 34, Núm. 1, pp. 84-89

2016

  1. Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation

    Revista Espanola de Cardiologia, Vol. 69, Núm. 5, pp. 520-521

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. Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas

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

  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