Publicacións (46) Publicacións de Jesús Barreiro Conde

2024

  1. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

    Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149

  2. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624

2018

  1. Management guidelines for disorders / different sex development (DSD)

    Anales de Pediatria, Vol. 89, Núm. 5, pp. 315.e1-315.e19

2017

  1. Acantosis nigricans in severe insulin resistance syndromes

    Anales de Pediatria, Vol. 86, Núm. 3, pp. 166-168

  2. Somapacitan, a once-weekly reversible albumin-binding GH derivative, in children with GH deficiency: A randomized dose-escalation trial

    Clinical Endocrinology, Vol. 87, Núm. 4, pp. 350-358

2011

  1. Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 3, Núm. 4, pp. 208-211

  2. Evolutionary analyses of entire genomes do not support the association of mtdna mutations with ras/mapk pathway syndromes

    PLoS ONE, Vol. 6, Núm. 4

  3. Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

    BMC Medical Genetics, Vol. 12

  4. Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: Prevalence, evolution of hormone dysfunction and genetic analysis

    Neuroendocrinology, Vol. 93, Núm. 3, pp. 181-188

2010

  1. Leydig cell testicular tumour presenting as isosexual precocious pseudopuberty in a 5 year-old boy with no palpable testicular mass

    Clinical Pediatric Endocrinology, Vol. 19, Núm. 1, pp. 19-23

2009

  1. Perspectivas actuales en el tratamiento del hiperinsulinismo congénito

    Acta pediátrica española, Vol. 67, Núm. 3, pp. 103-111

2008

  1. Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients

    Clinical Endocrinology, Vol. 68, Núm. 6, pp. 873-878

  2. Hypochondroplasia and acanthosis nigricans: A new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

    European Journal of Endocrinology, Vol. 159, Núm. 3, pp. 243-249

2007

  1. Hipoglucemia neonatal

    Anales de Pediatria

  2. Mutations in GCK and HNF-1α explain the majority of cases with clinical diagnosis of MODY in Spain

    Clinical Endocrinology, Vol. 67, Núm. 4, pp. 538-546

2006

  1. High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect

    Clinical Endocrinology, Vol. 64, Núm. 3, pp. 330-336

  2. Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

    Human mutation, Vol. 27, Núm. 2, pp. 214

2005

  1. Genetic basis of short stature

    Journal of Endocrinological Investigation

  2. Incidencia y características clínicas al manifestarse la diabetes mellitus tipo 1 en niños de Galicia (España, 2001-2002)

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 62, Núm. 2, pp. 123-127

  3. Incidencia y características clínicas al manifestarse la diabetes mellitus tipo 1 en niños de Galicia (España, 2001-2002)

    Anales de Pediatria, Vol. 62, Núm. 2, pp. 123-127