Publications (24) Publications de LUCÍA SENTCHORDI MONTANE

2024

  1. Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects

    European Journal of Endocrinology, Vol. 191, Núm. 1, pp. 38-46

2023

  1. Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases

    Clinical Genetics, Vol. 104, Núm. 1, pp. 100-106

2022

  1. Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia

    Journal of Medical Genetics, Vol. 59, Núm. 1, pp. 28-38

2021

  1. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

    European Journal of Endocrinology, Vol. 185, Núm. 5, pp. 691-705

  2. Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice

    Clinical Genetics, Vol. 99, Núm. 2, pp. 309-312

2020

  1. Improvisation in times of pandemic, a reason for reflection

    International Journal of Infectious Diseases

2018

  1. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

    Clinical Endocrinology, Vol. 88, Núm. 6, pp. 820-829

  2. IHH gene mutations causing short stature with nonspecific skeletal abnormalities and response to growth hormone therapy

    Journal of Clinical Endocrinology and Metabolism, Vol. 103, Núm. 2, pp. 604-614

  3. Mutations in C-natriuretic peptide (NPPC): A novel cause of autosomal dominant short stature

    Genetics in Medicine, Vol. 20, Núm. 1, pp. 91-97

2017

  1. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia

    Clinical Genetics, Vol. 92, Núm. 1, pp. 91-98

  2. Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations

    Journal of Clinical Endocrinology and Metabolism, Vol. 102, Núm. 2, pp. 460-469

2016

  1. Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 1, pp. 210-216

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

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

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

2009

  1. Enfermedad de Kawasaki

    Acta pediátrica española, Vol. 67, Núm. 7, pp. 330-332

  2. Enfermedad de Kawasaki

    Acta Pediatrica Espanola, Vol. 67, Núm. 7, pp. 330-332

2008

  1. Colelitiasis como causa infrecuente de dolor abdominal en el niño

    Revista Espanola de Pediatria, Vol. 64, Núm. 4, pp. 286-288

  2. Lactante con hepatoesplenomegalia y alteraciones óseas

    Revista Espanola de Pediatria, Vol. 64, Núm. 4, pp. 292-294

  3. Vello escrotal en lactantes

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 68, Núm. 2, pp. 146-148