Fundación Pública Galega de Medicina Xenómica
Centro de investigación
Publicacións nas que colabora con Jesús Barreiro Conde (15)
2024
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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149
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Identification of copy-number variants in patients with overgrowth disorders
Clinical Genetics
2011
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Evolutionary analyses of entire genomes do not support the association of mtdna mutations with ras/mapk pathway syndromes
PLoS ONE, Vol. 6, Núm. 4
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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
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Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: Prevalence, evolution of hormone dysfunction and genetic analysis
Neuroendocrinology, Vol. 93, Núm. 3, pp. 181-188
2008
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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
2006
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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
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Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
Human mutation, Vol. 27, Núm. 2, pp. 214
2005
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Genetic basis of short stature
Journal of Endocrinological Investigation
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Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein
Journal of Pediatric Endocrinology and Metabolism, Vol. 18, Núm. 6, pp. 545-548
2004
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Therapeutic optimization of growth hormone deficiency in children and adolescents
Journal of Pediatric Endocrinology and Metabolism, Vol. 17, Núm. SUPPL. 3, pp. 401-410
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Tratamiento combinado con análogos de GnRH y GH
Anales de Pediatria, Vol. 60, pp. 15-23
2003
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Optimización terapéutica del déficit de hormona de crecimiento en niños y adolescentes
Anales de Pediatria, Vol. 58, Núm. SUPPL. 2, pp. 3-11
2002
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Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome
Journal of Pediatric Endocrinology and Metabolism, Vol. 15, Núm. 7, pp. 1041-1045
1999
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The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population [5]
Journal of Clinical Endocrinology and Metabolism