Publications en collaboration avec des chercheurs de Hospital Universitario La Paz (25)

2024

  1. The Human Phenotype Ontology in 2024: phenotypes around the world

    Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346

2023

  1. 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

2022

  1. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

    Clinical Epigenetics, Vol. 14, Núm. 1

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

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

  3. Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome

    Journal of Medical Genetics, Vol. 59, Núm. 3, pp. 253-261

  4. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

    Clinical Epigenetics, Vol. 14, 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. Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

    Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders

    Anales de Pediatria, Vol. 90, Núm. 2, pp. 125.e1-125.e12

2018

  1. Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement

    Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500

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

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

  1. Intratumoral activating GNAS (R201C) mutation in two unrelated patients with virilizing ovarian Leydig cell tumors

    Endocrinologia, Diabetes y Nutricion, Vol. 64, Núm. 6, pp. 335-337

2016

  1. Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 10, pp. 2740-2749

  2. From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

    European Journal of Endocrinology, Vol. 175, Núm. 6, pp. P1-P17

2015

  1. European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: An EQA study

    European Journal of Human Genetics, Vol. 23, Núm. 4, pp. 438-444

2014

  1. Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: Patient reclassification

    Journal of Pediatric Endocrinology and Metabolism, Vol. 27, Núm. 11-12, pp. 1089-1094

2013

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

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

  2. Genome-Wide Allelic Methylation Analysis Reveals Disease-Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes

    Human Mutation, Vol. 34, Núm. 4, pp. 595-602

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