J. Barreiro

发表

Mutation spectra of ABCC8 gene in Spanish patients with hyperinsulinism of infancy (HI)

Á. Carracedo, A. Salas, A. Vega, 2006, Human mutation.

Papillary thyroid carcinoma after recombinant GH therapy for Turner syndrome.

R. Gallego, J. Barreiro, T. García-Caballero, 2005, European journal of endocrinology.

Evolutionary Analyses of Entire Genomes Do Not Support the Association of mtDNA Mutations with Ras/MAPK Pathway Syndromes

Á. Carracedo, A. Salas, M. Castro‐Gago, 2011, PloS one.

Pituitary Stalk Dysgenesis-Induced Hypopituitarism in Adult Patients: Prevalence, Evolution of Hormone Dysfunction and Genetic Analysis

F. Casanueva, M. Marazuela, F. Domínguez, 2011, Neuroendocrinology.

High serum leptin levels in children with type 1 diabetes mellitus: contribution of age, BMI, pubertal development and metabolic status

F. Casanueva, C. Diéguez, R. García-mayor, 1999, Clinical endocrinology.

Nocturnal rise of leptin in normal prepubertal and pubertal children and in patients with perinatal stalk-transection syndrome.

R. Considine, R. Hermida, C. Diéguez, 1997, The Journal of clinical endocrinology and metabolism.

Influence of sex, age and adrenergic pathways on the growth hormone response to GHRP‐6

F. Casanueva, C. Diéguez, J. Barreiro, 1993, Clinical endocrinology.

Absence of growth hormone (GH) secretion after the administration of either GH-releasing hormone (GHRH), GH-releasing peptide (GHRP-6), or GHRH plus GHRP-6 in children with neonatal pituitary stalk transection.

F. Casanueva, C. Diéguez, J. Barreiro, 1995, The Journal of clinical endocrinology and metabolism.

Plasma growth hormone response to growth hormone‐releasing hexapeptide (GH‐RP‐6) in children with short stature

F. Casanueva, C. Diéguez, J. Barreiro, 1995, Acta paediatrica.

Novel Mutation Involving the Translation Initiation Codon of the Growth Hormone Receptor Gene (GHR) in a Patient with Laron Syndrome

F. Domínguez, J. Barreiro, M. De la Fuente, 2002, Journal of pediatric endocrinology & metabolism : JPEM.

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

J. M. García-Sagredo, G. Ariceta, O. Moldovan, 2011, BMC Medical Genetics.

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

J. Costas, A. Sueiro, J. Cabezas-Agrícola, 2006, Clinical endocrinology.

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

A. Vidal, J. Barreiro, E. Rosón, 2008, European journal of endocrinology.

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Miguel Ángel Martínez, N. Rahman, Pablo I Alarcón, 2019, European Journal of Human Genetics.

Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH

Luis Antonio Castaño, M. Couce, J. Barreiro, 2011, Journal of clinical research in pediatric endocrinology.

Growth hormone releasing hexapeptide-6 (GHRP-6) test in the diagnosis of GH-deficiency.

F. Casanueva, C. Diéguez, J. Barreiro, 1996, Journal of Pediatric Endocrinology & Metabolism (JPEM).

Kallmann's Syndrome with a Novel Missense Mutation in the KALI Gene that Modifies the Major Cell Adhesion Site of the Anosmin-1 Protein

J. Barreiro, M. Pombo, L. Loidi, 2005, Journal of pediatric endocrinology & metabolism : JPEM.

Leydig Cell Testicular Tumour Presenting as Isosexual Precocious Pseudopuberty in a 5 Year-old Boy with No Palpable Testicular Mass

J. Barreiro, E. Estévez, A. Bautista, 2010, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.