Genomes and Genes
Affiliation: Hospital Universitari Vall d'Hebron
- Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex developmentL Audi
Unidad Investigación Endocrinología Pediátrica, Institut de Recerca, Hospital Vall d Hebron, Paseo Vall d Hebron 119, 08035 Barcelona, Spain
J Clin Endocrinol Metab 95:1876-88. 2010....
- The exon 3-deleted/full-length growth hormone receptor polymorphism does not influence the effect of puberty or growth hormone therapy on glucose homeostasis in short non-growth hormone-deficient small-for-gestational-age children: results from a two-yearL Audi
Servicio de Pediatria, Unidad de Endocrinologia, Hospital Maternoinfantil Vall d Hebron, Paseo Vall d Hebron 119, Barcelona, Spain
J Clin Endocrinol Metab 93:2709-15. 2008..However, its influence on glucose homeostasis, at baseline or under GH therapy, has not been investigated...
- Exon 3-deleted/full-length growth hormone receptor polymorphism genotype frequencies in Spanish short small-for-gestational-age (SGA) children and adolescents (n = 247) and in an adult control population (n = 289) show increased fl/fl in short SGALaura Audi
Department of Pediatrics, Hospital Vall d Hebron, Autonmous University, Barcelona, Spain
J Clin Endocrinol Metab 91:5038-43. 2006..A polymorphism in the human GH receptor gene (d3/fl-GHR) resulting in genomic deletion of exon 3 has been associated with the degree of height increase in response to GH therapy...
- Growth hormone (GH) dose, but not exon 3-deleted/full-length GH receptor polymorphism genotypes, influences growth response to two-year GH Therapy in Short Small-for-Gestational-Age ChildrenAntonio Carrascosa
Department of Pediatrics, Institut de Recerca, Hospital Vall d Hebron, Centre for Biomedical Research on Rare Diseases, Autonomous University, 08035, Barcelona, Spain
J Clin Endocrinol Metab 93:147-53. 2008..d); however, these results were not confirmed for higher GH doses (56-66 microg/kg.d). We hypothesized that higher doses would mask the lower dose differences...
- Human growth hormone (GH1) gene polymorphism map in a normal-statured adult populationCristina Esteban
Department of Pediatrics and Pediatric Endocrinology, Hospital Materno Infantil Vall d Hebron, Autonomous University of Barcelona, Barcelona, Spain
Clin Endocrinol (Oxf) 66:258-68. 2007..The aim of the study was to establish the complete map of GH1 gene SNPs in our control normal population and to analyse its association with adult height...
- Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese originMonica Fernandez-Cancio
Unidad Investigación Endocrinología y Nutrición Pediátricas, Hospital Vall d Hebron, Barcelona, Spain
J Androl 25:412-6. 2004..Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development...
- Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult heightNuria Camats
Departments of Paediatrics and Paediatric Endocrinology Research Unit, Vall d Hebron Institut de Recerca VHIR, Hospital Vall d Hebron, Autonomous University of Barcelona, CIBERER Centre for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain
Clin Endocrinol (Oxf) 77:564-74. 2012..The aim of this study was to analyse the contribution of growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to GH deficiency in a series of prepubertal ISGHD patients and to normal adult height...
- Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) geneJose I Labarta
Endocrinology Unit, Department of Pediatrics, Hospital Infantil Universitario Miguel Servet, Zaragoza, Spain
Clin Endocrinol (Oxf) 78:255-62. 2013..IGF-I is essential for normal human growth and mediates its effects through the IGF1R. IGF1R mutations have been associated with varying degrees of intrauterine and postnatal growth retardation...
- Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 geneMonica Fernandez-Cancio
Unidad Investigación Endocrinología y Nutrición Pediátricas, Hospital Vall d Hebron, Barcelona, Espana
Horm Res 62:259-64. 2004..Testis morphology showed that, during early infancy, the 5alpha-reductase deficiency may not have affected interstitial or tubular development...
- [Association of vitamin D receptor gene polymorphism with type 1 diabetes mellitus in two Spanish populations]Gertrudis Martí
Unidad de Investigación en Endocrinología y Nutrición Pediátricas, Servicio de Pediatria, Hospital Vall d Hebron, Barcelona, Spain
Med Clin (Barc) 123:286-90. 2004..In order to assess whether vitamin D receptor gene polymorphisms are involved in the genetic regulation of type 1 diabetes susceptibility, a case-control study was conducted in two Spanish populations with different genetic backgrounds...
- Fetal growth regulation and intrauterine growth retardationAntonio Carrascosa
Children s Hospital Vall d Hebron, Autonomous University of Barcelona, Spain
J Pediatr Endocrinol Metab 17:435-43. 2004..In addition children born SGA without postnatal catch-up are shorter and have higher weight than age-, height- and sex-matched controls born AGE...
- Genetically determined gonadal tumours in childrenLaura Audi
Unidad Investigación Endocrinología y Nutrición Pediátricas Hospital Vall d Hebron Paseo Vall d Hebron 119, Barcelona 08035, Spain
J Pediatr Endocrinol Metab 18:1215-25. 2005
- [Influence of the age at the start of pubertal growth on adult height]Antonio Carrascosa
Servicio de Pediatría y de Endocrinología Pediátrica, Hospital Universitario Materno Infantil Vall d Hebron, Universidad Autónoma de Barcelona CIBERER Instituto de Salud Carlos III, Barcelona, Espana
Med Clin (Barc) 130:645-9. 2008..However, little is known on the influence of this fact on normal adult height distribution. Our aim was to compare adult height reached in the 5 maturing groups, according to age at pubertal onset...
- ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutationDiego Yeste
Pediatric Endocrinology Department, Hospital Universitario Vall d Hebron, Autonomous University Barcelona, Paseo Vall d Hebron, 119 129, 08035, Barcelona, Spain
Eur J Pediatr 168:65-9. 2009....
- Areal bone mineral density of the lumbar spine in 80 premature newborns: a prospective and longitudinal studyDiego Yeste
Pediatric Endocrinology Unit and Neonatology Unit, Hospital Materno Infantil Vall d Hebron, Barcelona, Spain
J Pediatr Endocrinol Metab 17:959-66. 2004..Maximum bone mass accretion in the fetal skeleton is acquired during the third trimester of gestation, and may be compromised in premature newborns...
- Gender-associated differences of perforin polymorphisms in the susceptibility to multiple sclerosisMontse Camiña-Tato
Centre d esclerosi multiple de Catalunya, Unitat de Neuroimmunologia Clinica, Hospital Universitari Vall d Hebron, Barcelona, Spain
J Immunol 185:5392-404. 2010....
- Clinical and biochemical determinants of bone metabolism and bone mass in adolescent female patients with anorexia nervosaLaura Audi
Adolescent Endocrinology Unit and Pediatric Endocrinology and Nutrition Research Unit, Pediatric Hospital, Hospital Vall d Hebron, Barcelona, Spain
Pediatr Res 51:497-504. 2002..In addition to psychiatric and nutritional interventions, estrogen-deprivation periods must be shortened to less than 20 mo. Patients remaining osteopenic at full clinical recovery require additional follow-up studies...