L. Audí

Publications176
h-index31
Citations3,003
Highly Influential Citations81
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Rickets in the Middle East: role of environment and genetic predisposition.
CONTEXT The Middle East has a high incidence of rickets, and it is also common in Europe-dwelling children of Middle Eastern origin. OBJECTIVE The objective of the study was to explore the… Expand
  • 116
  • 8
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Personalized Approach to Growth Hormone Treatment: Clinical Use of Growth Prediction Models
The goal of growth hormone (GH) treatment in a short child is to attain a fast catch-up growth toward the target height (TH) standard deviation score (SDS), followed by a maintenance phase, a proper… Expand
  • 48
  • 6
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The d3/fl-growth hormone (GH) receptor polymorphism does not influence the effect of GH treatment (66 microg/kg per day) or the spontaneous growth in short non-GH-deficient small-for-gestational-age…
CONTEXT The d3/fl-GH receptor (d3/fl-GHR, exon 3-deleted/full-length GHR) has recently been associated with responsiveness to GH therapy. OBJECTIVE The objective of the study was to evaluate… Expand
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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…
CONTEXT 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. OBJECTIVE Our objective was to… Expand
  • 49
  • 4
Vitreous levels of vascular endothelial growth factor are not influenced by its serum concentrations in diabetic retinopathy
Summary Vascular endothelial growth factor (VEGF) plays a major role in the development of neovascularization in proliferative diabetic retinopathy (PDR). The source of intravitreous VEGF is… Expand
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Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
BACKGROUND Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women… Expand
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  • 3
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Clinical and Biochemical Determinants of Bone Metabolism and Bone Mass in Adolescent Female Patients with Anorexia Nervosa
Among pathologies prevalent in western societies, anorexia nervosa has increased over the last decade. Its effects on bone mass need to be defined, and prognostic factors, either clinical or… Expand
  • 114
  • 3
Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia
Context Steroidogenic acute regulatory protein (StAR) is crucial for transport of cholesterol to mitochondria where biosynthesis of steroids is initiated. Loss of StAR function causes lipoid… Expand
  • 55
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Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.
CONTEXT Steroidogenic factor-1 (SF-1/NR5A1) is a nuclear receptor that regulates adrenal and reproductive development and function. NR5A1 mutations have been detected in 46,XY individuals with… Expand
  • 93
  • 3
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Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry
  • K. Cox, J. Bryce, +21 authors S. Ahmed
  • Medicine, Biology
  • The Journal of clinical endocrinology and…
  • 3 December 2013
Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority… Expand
  • 59
  • 3
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