M Fernández-Cancio

Summary

Affiliation: Hospital Universitari Vall d'Hebron
Country: Spain

Publications

  1. doi request reprint SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation
    M Fernández-Cancio
    Unidad Investigación Endocrinología y Nutrición Pediátricas, Institut de Recerca, Hospital Vall d Hebron, CIBERER Centro de Investigación Biomédica en Red, Instituto de Salud Carlos III, Universitat Autonoma de Barcelona, Barcelona, Spain
    Int J Androl 34:e526-35. 2011
  2. doi request reprint IGF-I and not IGF-II expression is regulated by glucocorticoids in human fetal epiphyseal chondrocytes
    M Fernández-Cancio
    Pediatric Endocrinology Research Unit, Hospital Vall d Hebron, Autonomous University, Barcelona, Spain
    Growth Horm IGF Res 18:497-505. 2008
  3. doi request reprint Vitamin D and growth hormone regulate growth hormone/insulin-like growth factor (GH-IGF) axis gene expression in human fetal epiphyseal chondrocytes
    M Fernández-Cancio
    Research Institute, Hospital Vall d Hebron, Autonomous University of Barcelona, CIBERER Centro de Investigación en Red de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain
    Growth Horm IGF Res 19:232-7. 2009
  4. doi request reprint Height gain at adult-height age in 184 short patients treated with growth hormone from prepubertal age to near adult-height age is not related to GH secretory status at GH therapy onset
    A Carrascosa
    Department of Pediatrics, Institut de Recerca, Hospital Vall d Hebron, Centre for Biomedical Research on Rare Diseases CIBERER, Autonomous University, Barcelona, Spain
    Horm Res Paediatr 79:145-56. 2013
  5. ncbi request reprint The exon 3-deleted/full-length growth hormone receptor polymorphism did not influence growth response to growth hormone therapy over two years in prepubertal short children born at term with adequate weight and length for gestational age
    A Carrascosa
    Department of Pediatrics, Institut de Recerca, Hospital Vall d Hebron, Centre for Biomedical Research on Rare Diseases, Autonomous University, Barcelona, Spain
    J Clin Endocrinol Metab 93:764-70. 2008
  6. doi request reprint Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development
    L 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
  7. doi request reprint Growth hormone secretory status evaluated by growth hormone peak after two pharmacological growth hormone release stimuli did not significantly influence the two-year catch-up growth induced by growth hormone therapy in 318 prepubertal short children with
    A Carrascosa
    Department of Paediatrics, Institut de Recerca, Hospital Vall d Hebron, Centre for Biomedical Research on Rare Diseases CIBERER, Autonomous University, Barcelona, Spain ancarrascosa vhebron net
    Horm Res Paediatr 75:106-14. 2011
  8. ncbi request reprint Growth hormone deficiency: an update
    L Audi
    Pediatric Endocrinology Research Unit, VHIR Vall d Hebron Research Institute, Pediatric Service, Vall d Hebron Hospital Autonomous University of Barcelona CIBERER Center for Biomedical Research on Rare Diseases Instituto de Salud Carlos III, Barcelona, Spain
    Minerva Endocrinol 38:1-16. 2013
  9. doi request reprint 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-year
    L 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
  10. doi request reprint Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals
    N Camats
    Pediatric Endocrinology Research Unit, Hospital Vall d Hebron, Passeig Vall d Hebron 119, Barcelona 08035, Spain
    J Clin Endocrinol Metab 97:E1294-306. 2012

Collaborators

Detail Information

Publications10

  1. doi request reprint SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation
    M Fernández-Cancio
    Unidad Investigación Endocrinología y Nutrición Pediátricas, Institut de Recerca, Hospital Vall d Hebron, CIBERER Centro de Investigación Biomédica en Red, Instituto de Salud Carlos III, Universitat Autonoma de Barcelona, Barcelona, Spain
    Int J Androl 34:e526-35. 2011
    ..SRD5A2 gene mutations may not be as infrequent as previously considered in 46,XY DSD patients with variable degrees of external genitalia virilization at birth and normal T production and appears to be the second aetiology in our series...
  2. doi request reprint IGF-I and not IGF-II expression is regulated by glucocorticoids in human fetal epiphyseal chondrocytes
    M Fernández-Cancio
    Pediatric Endocrinology Research Unit, Hospital Vall d Hebron, Autonomous University, Barcelona, Spain
    Growth Horm IGF Res 18:497-505. 2008
    ..To elucidate the involvement of IGF axis components and the potential effects of glucocorticoids (GCs) in human fetal growth regulation...
  3. doi request reprint Vitamin D and growth hormone regulate growth hormone/insulin-like growth factor (GH-IGF) axis gene expression in human fetal epiphyseal chondrocytes
    M Fernández-Cancio
    Research Institute, Hospital Vall d Hebron, Autonomous University of Barcelona, CIBERER Centro de Investigación en Red de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain
    Growth Horm IGF Res 19:232-7. 2009
    ....
  4. doi request reprint Height gain at adult-height age in 184 short patients treated with growth hormone from prepubertal age to near adult-height age is not related to GH secretory status at GH therapy onset
    A Carrascosa
    Department of Pediatrics, Institut de Recerca, Hospital Vall d Hebron, Centre for Biomedical Research on Rare Diseases CIBERER, Autonomous University, Barcelona, Spain
    Horm Res Paediatr 79:145-56. 2013
    ..GH release after stimuli classifies AGA patients as IIGHD or as idiopathic short stature (ISS)...
  5. ncbi request reprint The exon 3-deleted/full-length growth hormone receptor polymorphism did not influence growth response to growth hormone therapy over two years in prepubertal short children born at term with adequate weight and length for gestational age
    A Carrascosa
    Department of Pediatrics, Institut de Recerca, Hospital Vall d Hebron, Centre for Biomedical Research on Rare Diseases, Autonomous University, Barcelona, Spain
    J Clin Endocrinol Metab 93:764-70. 2008
    ..Consensus is lacking as to whether the exon 3-deleted (d3)/full-length (fl) GH receptor (GHR) polymorphism is associated with responsiveness to GH therapy...
  6. doi request reprint Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development
    L 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
    ....
  7. doi request reprint Growth hormone secretory status evaluated by growth hormone peak after two pharmacological growth hormone release stimuli did not significantly influence the two-year catch-up growth induced by growth hormone therapy in 318 prepubertal short children with
    A Carrascosa
    Department of Paediatrics, Institut de Recerca, Hospital Vall d Hebron, Centre for Biomedical Research on Rare Diseases CIBERER, Autonomous University, Barcelona, Spain ancarrascosa vhebron net
    Horm Res Paediatr 75:106-14. 2011
    ....
  8. ncbi request reprint Growth hormone deficiency: an update
    L Audi
    Pediatric Endocrinology Research Unit, VHIR Vall d Hebron Research Institute, Pediatric Service, Vall d Hebron Hospital Autonomous University of Barcelona CIBERER Center for Biomedical Research on Rare Diseases Instituto de Salud Carlos III, Barcelona, Spain
    Minerva Endocrinol 38:1-16. 2013
    ....
  9. doi request reprint 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-year
    L 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...
  10. doi request reprint Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals
    N Camats
    Pediatric Endocrinology Research Unit, Hospital Vall d Hebron, Passeig Vall d Hebron 119, Barcelona 08035, Spain
    J Clin Endocrinol Metab 97:E1294-306. 2012
    ..NR5A1 mutations have been detected in 46,XY individuals with disorders of sexual development (DSD) but apparently normal adrenal function and in 46,XX women with normal sexual development yet primary ovarian insufficiency (POI)...