136 results on '"Audí, L."'
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2. IGF-I and not IGF-II expression is regulated by glucocorticoids in human fetal epiphyseal chondrocytes
3. Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals
4. SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation
5. 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 Controlled Prospective Study
6. 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
7. The d3/fl-Growth Hormone (GH) Receptor Polymorphism Does Not Influence the Effect of GH Treatment (66 μg/kg per Day) or the Spontaneous Growth in Short Non-GH-Deficient Small-for-Gestational-Age Children: Results from a Two-Year Controlled Prospective Study in 170 Spanish Patients
8. VDR gene polymorphism at exon 2 start codon (FokI) may have influenced Type 1 diabetes mellitus susceptibility in two Spanish populations
9. Vitreous levels of vascular endothelial growth factor are not influenced by its serum concentrations in diabetic retinopathy
10. GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’
11. Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 'DSDnet'.
12. Longitudinal Pubertal Growth According to Age at Pubertal Growth Spurt Onset: Data from a Spanish Study Including 458 Children (223 Boys and 235 Girls)
13. Vitamin D Stimulates Growth Hormone-Insulin-Like Growth Factor (GH-IGF) Gene Axis Expression and Potentiates GH Effect to Reverse the Inhibition Produced by Glucocorticoids in Human Growth Plate Chondrocytes
14. Genetically Determined Gonadal Tumours in Children
15. Long-Term GH Therapy: Epidemiology and Auxologic Outcome
16. Spontaneous, But Not Induced, Puberty Permits Adequate Bone Mass Acquisition in Adolescent Turner Syndrome Patients
17. Peptídeos derivados do colágeno: novos marcadores bioquímicos do metabolismo ósseo
18. Bone mass acquisition during infancy, childhood and adolescence
19. 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.
20. Human Studies on the Biological Actions of IGF-1. Evidence Suggesting that Human Fetal and Postnatal Epiphyseal Cartilage is a Target Tissue for IGF-1 Action
21. Male pseudohermaphroditism due to Leydig cell agenesia and absence of testicular LH receptors
22. Assay-Dependent Results of Immunoassayable Spontaneous 24-Hour Growth Hormone Secretion in Short Children
23. Effect of Chronic Clonidine Treatment on Urinary Growth Hormone Excretion and Linear Growth in Children with Short Stature
24. Letters VDR gene polymorphism at exon 2 start codon ( FokI) may have influenced Type 1 diabetes mellitus susceptibility in two Spanish populations.
25. Growth hormone/insulin-like growth factors axis in children undergoing cardiac surgery.
26. Clinical, Biochemical and Morphologic Diagnostic Markers in an Infant Male Pseudohermaphrodite Patient with Compound Heterozygous Mutations (G115D/R246W) in SRD5A2 Gene
27. 17-ketosteroid reductase deficiency in an adult patient without gynaecomastia but with female psychosexual orientation
28. Growth hormone deficiency: An update
29. The sixth ESPE Growth Plate Working Group Symposium (EUROGROP), June 30th, Rotterdam, the Netherlands, 'A multidisciplinary approach to growth plate biology'
30. 40 INTEGRATED CONCENTRATIONS OF GH IN CHILDREN WITH CONSTITUTIONAL GROWTH DELAY. RESULTS FROM SEVEN DIFFERENT RIAs
31. Insulin levels after injection by jet stream and disposable syringe.
32. Ambiguous Genitalia, Gonadoblastoma, Aniridia and Mental Retardation with Deletion of Chromosome 11
33. Broad phenotypes of disorders/differences of sex development in MAMLD1 patients through oligogenic disease
34. Broad phenotypes of disorders/differences of sex development in MAMLD1 patients through oligogenic disease
35. Five-alpha-reductase type 2 deficiency in Spain.
36. The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): I) Physiology, classification, approach, and methodologyII) Biochemical and genetic markers in 46,XX DSD.
37. The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): III) Biochemical and genetic markers in the 46,XYIV) Proposals for the differential diagnosis of DSD.
38. El laboratorio en el diagnóstico multidisciplinar del desarrollo sexual anómalo o diferente (DSD): III) Marcadores bioquímicos y genéticos en los 46,XY IV) Propuestas para el diagnóstico diferencial de los DSD.
39. Molecular Aspects of Sex Development in Mammals: New Insight for Practice.
40. Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.
41. Oligogenic Origin of Differences of Sex Development in Humans.
42. Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.
43. A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome.
44. Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
45. Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency.
46. Transient hyperandrogenism in 2 preterm twins with exposure to antiretrovirals.
47. Development of Laboratory Investigations in Disorders of Sex Development.
48. Nutritional rickets: vitamin D, calcium, and the genetic make-up.
49. Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.
50. Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.
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