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L. Audı́ · SciRah

Researcher profile · Semantic Scholar

L. Audı́

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L. Audı́ — researcher profile on SciRah

h-index: 35
Works: 150
Citations: 3,647

Most-cited papers

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
L. Audı́, M. Fernández-Cancio, A. Carrascosa, P. Andaluz +40 more
2010Journal of Clinical Endocrinology and Metabolism145 citations Open access
Semantic Scholar
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’
L. Audı́, S. F. Ahmed, N. Krone, M. Cools +8 more
2018European Journal of Endocrinology139 citations Open access
Semantic Scholar
Rickets in the Middle East: role of environment and genetic predisposition.
G. Baroncelli, A. Bereket, Mohamed El Kholy, L. Audı́ +7 more
2008Journal of Clinical Endocrinology and Metabolism135 citations Open access
Semantic Scholar
Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.
N. Camats, A. Pandey, M. Fernández-Cancio, P. Andaluz +14 more
2012Journal of Clinical Endocrinology and Metabolism130 citations Open access
Semantic Scholar
Clinical and Biochemical Determinants of Bone Metabolism and Bone Mass in Adolescent Female Patients with Anorexia Nervosa
L. Audı́, D. Vargas, M. Gussinyé, D. Yeste +2 more
2002Pediatric Research119 citations
Semantic Scholar
Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry
Kathryn Cox, J. Bryce, Ji-Pu Jiang, M. Rodie +20 more
2013Journal of Clinical Endocrinology and Metabolism107 citations Open access
Semantic Scholar
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 children: results from a two-year controlled prospective study in 170 Spanish patients.
Antonio Carrascosa, C. Esteban, R. Espadero, M. Fernández-Cancio +6 more
2006Journal of Clinical Endocrinology and Metabolism86 citations
Semantic Scholar
Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia
C. Flück, A. Pandey, B. Dick, N. Camats +6 more
2011PLoS ONE79 citations Open access
Semantic Scholar
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 SGA.
L. Audı́, C. Esteban, A. Carrascosa, R. Espadero +6 more
2006Journal of Clinical Endocrinology and Metabolism76 citations Open access
Semantic Scholar
Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity
N. Hornig, M. Ukat, H. Schweikert, O. Hiort +21 more
2016Journal of Clinical Endocrinology and Metabolism68 citations Open access
Semantic Scholar
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
N. Camats, M. Fernández-Cancio, L. Audı́, A. Schaller +1 more
2018European Journal of Human Genetics56 citations Open access
Semantic Scholar
Management of Gonads in Adults with Androgen Insensitivity: An International Survey
L. Tack, E. Maris, L. Looijenga, Sabine E. Hannema +23 more
2018Hormone Research in Paediatrics53 citations Open access
Semantic Scholar
Decreased cell proliferation and higher oxidative stress in fibroblasts from Down Syndrome fetuses. Preliminary study.
A. Gimeno, J. García-Giménez, L. Audı́, N. Torán +4 more
2014Biochimica et Biophysica Acta53 citations Open access
Semantic Scholar
A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation
N. Hornig, C. D. de Beaufort, Friederike Denzer, M. Cools +10 more
2016PLoS ONE52 citations Open access
Semantic Scholar
Intracellular Oxidant Activity, Antioxidant Enzyme Defense System, and Cell Senescence in Fibroblasts with Trisomy 21
V. Rodríguez-Sureda, Ángel Vilches, O. Sánchez, L. Audı́ +1 more
2015Oxidative Medicine and Cellular Longevity52 citations Open access
Semantic Scholar
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.
Antonio Carrascosa, L. Audı́, M. Fernández-Cancio, C. Esteban +6 more
2008Journal of Clinical Endocrinology and Metabolism51 citations
Semantic Scholar
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 Children.
A. Carrascosa, L. Audı́, C. Esteban, M. Fernández-Cancio +5 more
2008Journal of Clinical Endocrinology and Metabolism48 citations
Semantic Scholar
Oligogenic Origin of Differences of Sex Development in Humans
N. Camats, C. Flück, L. Audı́
2020International Journal of Molecular Sciences46 citations Open access
Semantic Scholar
Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.
M. Fernández-Cancio, M. Nistal, R. Gracía, M. A. Molina +4 more
2004Journal of Andrology44 citations
Semantic Scholar
Longitudinal Pubertal Growth According to Age at Pubertal Growth Spurt Onset: Data from a Spanish Study Including 458 Children (223 Boys and 235 Girls)
Á. Ferrández, A. Carrascosa, L. Audı́, Luis Baguer +9 more
2009Journal of Pediatric Endocrinology & Metabolism (JPEM)40 citations
Semantic Scholar
Addressing gaps in care of people with conditions affecting sex development and maturation
O. Hiort, Martine Cools, A. Springer, K. McElreavey +11 more
2019Nature Reviews Endocrinology39 citations Open access
Semantic Scholar
GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes
Idoia Martínez de Lapiscina, Carmen de Mingo, S. Riedl, Amaia Rodríguez +7 more
2018Frontiers in Endocrinology39 citations Open access
Semantic Scholar
SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.
M. Fernández-Cancio, L. Audı́, P. Andaluz, N. Torán +14 more
2011International Journal of Andrology39 citations Open access
Semantic Scholar
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
M. Fernández-Cancio, N. Camats, C. Flück, A. Zalewski +6 more
2018Pharmaceuticals34 citations Open access
Semantic Scholar
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, L. Audı́, A. Carrascosa, N. Torán +3 more
2009Growth Hormone & IGF Research34 citations
Semantic Scholar
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease
C. Flück, L. Audı́, M. Fernández-Cancio, K. Sauter +4 more
2019Frontiers in Genetics33 citations Open access
Semantic Scholar
Human growth hormone (GH1) gene polymorphism map in a normal-statured adult population
C. Esteban, L. Audı́, A. Carrascosa, M. Fernández-Cancio +8 more
2007Clinical Endocrinology33 citations Open access
Semantic Scholar
Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF‐I receptor (IGF1R) gene
J. Labarta, E. Barrio, L. Audı́, M. Fernández-Cancio +7 more
2013Clinical Endocrinology32 citations Open access
Semantic Scholar
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.
L. Audı́, Antonio Carrascosa, C. Esteban, M. Fernández-Cancio +6 more
2008Journal of Clinical Endocrinology and Metabolism32 citations
Semantic Scholar
Systematic Reviews and Meta-and Pooled Analyses Growth Hormone Receptor Polymorphism and Growth Hormone Therapy Response in Children : A Bayesian Meta-Analysis
A. Renehan, M. Solomon, M. Zwahlen, R. Morjaria +13 more
201231 citations
Semantic Scholar
Gender-Associated Differences of Perforin Polymorphisms in the Susceptibility to Multiple Sclerosis
Montserrat Camiña-Tato, C. Morcillo-Suarez, M. F. Bustamante, I. Ortega +12 more
2010Journal of Immunology28 citations
Semantic Scholar
Clinical, Biochemical and Morphologic Diagnostic Markers in an Infant Male Pseudohermaphrodite Patient with Compound Heterozygous Mutations (G115D/R246W) in SRD5A2 Gene
M. Fernández-Cancio, J. Rodó, P. Andaluz, M. J. Martínez de Osaba +4 more
2004Hormone Research in Paediatrics27 citations
Semantic Scholar
Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes
D. Tiosano, L. Audı́, S. Climer, Wei-Xiong Zhang +6 more
2016G3: Genes, Genomes, Genetics25 citations Open access
Semantic Scholar
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
Antonio Carrascosa, L. Audı́, M. Fernández-Cancio, D. Yeste +10 more
2013Hormone Research in Paediatrics25 citations
Semantic Scholar
Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype
N. Camats, M. Fernández-Cancio, L. Audı́, P. Mullis +7 more
2015PLoS ONE23 citations Open access
Semantic Scholar
Growth hormone deficiency: an update.
L. Audı́, M. Fernández-Cancio, N. Camats, Antonio Carrascosa
2013Minerva Endocrinologica23 citations
Semantic Scholar
Determinant factors of gender identity: a commentary.
Lih M. Liao, L. Audı́, Ellie Magritte, H. Meyer-Bahlburg +1 more
2012Journal of Pediatric Urology23 citations
Semantic Scholar
Regional Variations in the Management of Testicular or Ovotesticular Disorders of Sex Development
N. Josso, L. Audı́, G. Shaw
2011Sexual Development23 citations
Semantic Scholar
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 Idiopathic Growth Retardation
Antonio Carrascosa, L. Audı́, M. Fernández-Cancio, D. Yeste +10 more
2010Hormone Research in Paediatrics23 citations
Semantic Scholar
Molecular basis of CYP19A1 deficiency in a 46, XX patient with R550W mutation in POR: Expanding the PORD phenotype.
Shaheena Parween, M. Fernández-Cancio, S. Benito-Sanz, N. Camats +7 more
2020Journal of Clinical Endocrinology and Metabolism22 citations Open access
Semantic Scholar
Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop
C. Sanders, Joanne Hall, A. Dessens, J. Bryce +16 more
2018Sexual Development22 citations Open access
Semantic Scholar
Retinol-Binding Protein 4 Levels in Obese Children and Adolescents with Glucose Intolerance
D. Yeste, J. Vendrell, R. Tomasini, L. Gallart +6 more
2010Hormone Research in Paediatrics22 citations
Semantic Scholar
A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness
A. Dauber, Y. Meng, L. Audı́, S. Vedantam +10 more
2020Journal of Clinical Endocrinology and Metabolism21 citations Open access
Semantic Scholar
Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency.
Marcela M. França, A. Jorge, Kyriaki S. Alatzoglou, L. Carvalho +5 more
2011Journal of Clinical Endocrinology and Metabolism21 citations
Semantic Scholar
IGF-I and not IGF-II expression is regulated by glucocorticoids in human fetal epiphyseal chondrocytes.
M. Fernández-Cancio, C. Esteban, A. Carrascosa, N. Torán +2 more
2008Growth Hormone & IGF Research21 citations
Semantic Scholar
Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis
J. Malíková, N. Camats, M. Fernández-Cancio, K. Heath +7 more
2014PLoS ONE20 citations Open access
Semantic Scholar
[Association of vitamin D receptor gene polymorphism with type 1 diabetes mellitus in two Spanish populations].
G. Martí, L. Audı́, C. Esteban, M. Oyarzábal +6 more
2004Medicina clínica (Ed. impresa)20 citations
Semantic Scholar
Complete Androgen Insensitivity Syndrome Associated with Male Gender Identity or Female Precocious Puberty in the Same Family
J. A. Bermúdez de la Vega, M. Fernández-Cancio, S. Bernal, L. Audı́
2015Sexual Development18 citations
Semantic Scholar
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases
N. Camats, A. Pandey, M. Fernández-Cancio, Juan M. Fernández +5 more
2014Clinical Endocrinology18 citations
Semantic Scholar
Pubertal Growth and Adult Height According to Age at Pubertal Growth Spurt Onset: Data from a Spanish Study Including 540 Subjects (281 Boys and 259 Girls)
A. Carrascosa, Á. Ferrández, L. Audı́, Elena Sánchez
201218 citations
Semantic Scholar

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M. Fernández-Cancio×30
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M. Fernández-Cancio — researcher profile on SciRah
A. Carrascosa×18
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A. Carrascosa — researcher profile on SciRah
P. Andaluz×15
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M. Gussinyé×12
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D. Yeste — researcher profile on SciRah

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Antonio Carrascosa — researcher profile on SciRah

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M. Cools — researcher profile on SciRah