L. Audí

发表

Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

B. Dick, C. Flück, A. Pandey, 2011, PloS one.

Oligogenic Origin of Differences of Sex Development in Humans

C. Flück, N. Camats, L. Audí, 2020, International journal of molecular sciences.

Suppressive therapy with levothyroxinefor solitary thyroid nodules

L. Audí, A. Lucas, I. Salinas, 1992, Clinical endocrinology.

Promoter-Dependent Activity on Androgen Receptor N-Terminal Domain Mutations in Androgen Insensitivity Syndrome

N. Mongan, I. McEwan, Rosalind S. Brown, 2014, Sexual Development.

A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

C. de Beaufort, R. Siebert, M. Wabitsch, 2016, PloS one.

Spontaneous, But Not Induced, Puberty Permits Adequate Bone Mass Acquisition in Adolescent Turner Syndrome Patients

M. Gussinyé, A. Carrascosa, L. Audí, 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness

J. Hirschhorn, Y. Meng, S. Vedantam, 2020, The Journal of clinical endocrinology and metabolism.

Clinical and Biochemical Determinants of Bone Metabolism and Bone Mass in Adolescent Female Patients with Anorexia Nervosa

M. Gussinyé, A. Carrascosa, L. Audí, 2002, Pediatric Research.

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.

H. Wollmann, M. Fernández-Cancio, A. Carrascosa, 2008, The Journal of clinical endocrinology and metabolism.

Gender-Associated Differences of Perforin Polymorphisms in the Susceptibility to Multiple Sclerosis

X. Montalban, A. Navarro, Roland Martin, 2010, The Journal of Immunology.

Rickets in the Middle East: role of environment and genetic predisposition.

Z. Hochberg, G. Saggese, M. Fernández-Cancio, 2008, The Journal of clinical endocrinology and metabolism.

Bone mass acquisition during infancy, childhood and adolescence

M. Gussinyé, A. Carrascosa, L. Audí, 1995, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Comparative effects of captopril versus nifedipine on proteinuria and renal function of type 2 diabetic patients.

L. Audí, R. Romero, A. Lucas, 1992, Diabetes research and clinical practice.

Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry

F. Darendeliler, S. Ahmed, P. Wieacker, 2013, The Journal of clinical endocrinology and metabolism.

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

P. Lapunzina, M. Campo, J. Calaf, 2010, The Journal of clinical endocrinology and metabolism.

Retinol-Binding Protein 4 Levels in Obese Children and Adolescents with Glucose Intolerance

L. Gallart, I. Simón, M. Clemente, 2010, Hormone Research in Paediatrics.

Anomalous Costochondral Cartilage in Fetal Anencephaly

M. García-Ramírez, A. Carrascosa, L. Audí, 2000, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)

L. Audí, M. Granada, 2021, Advances in laboratory medicine.

Systematic Reviews and Meta-and Pooled Analyses Growth Hormone Receptor Polymorphism and Growth Hormone Therapy Response in Children : A Bayesian Meta-Analysis

M. Zwahlen, G. Binder, P. Clayton, 2012 .

Personalized Approach to Growth Hormone Treatment: Clinical Use of Growth Prediction Models

S. van Buuren, P. Clayton, J. Wit, 2013, Hormone Research in Paediatrics.

Genetic Determinants of Bone Mass

M. García-Ramírez, A. Carrascosa, L. Audí, 1999, Hormone Research in Paediatrics.

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

A. Carrascosa, L. Audí, 1993, The Journal of pediatric endocrinology.

Genetically Determined Gonadal Tumours in Children

M. Gussinyé, L. Audí, N. Torán, 2005, Journal of pediatric endocrinology & metabolism : JPEM.

Insulin Levels After Injection by Jet Stream and Disposable Syringe

L. Audí, A. Lucas, I. Salinas, 1988, Diabetes Care.

Effects of triiodothyronine (T3) and identification of specific nuclear T3-binding sites in cultured human fetal epiphyseal chondrocytes.

A. Carrascosa, L. Audí, Á. Ballabriga, 1992, The Journal of clinical endocrinology and metabolism.

Biological effects of androgens and identification of specific dihydrotestosterone-binding sites in cultured human fetal epiphyseal chondrocytes.

A. Carrascosa, L. Audí, Á. Ballabriga, 1990, The Journal of clinical endocrinology and metabolism.

Androgen binding protein is tissue-specifically expressed and biologically active in transgenic mice

H. Gérard, A. Gérard, J. Reventós, 1995, The Journal of Steroid Biochemistry and Molecular Biology.

Reduced androgen receptor expression in genital skin fibroblasts from patients with 45,X/46,XY mosaicism.

O. Ammerpohl, A. Caliebe, O. Hiort, 2019, The Journal of clinical endocrinology and metabolism.

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

R. Siebert, C. Seif, T. Reinehr, 2016, The Journal of clinical endocrinology and metabolism.

Decreased cell proliferation and higher oxidative stress in fibroblasts from Down Syndrome fetuses. Preliminary study.

F. Pallardó, J. Viña, F. Dasí, 2014, Biochimica et biophysica acta.

IGF-I and not IGF-II expression is regulated by glucocorticoids in human fetal epiphyseal chondrocytes.

M. Fernández-Cancio, A. Carrascosa, L. Audí, 2008, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

L. Looijenga, K. Kluivers, S. Ahmed, 2018, Hormone Research in Paediatrics.

Nutritional rickets: vitamin D, calcium, and the genetic make-up

M. Fernández-Cancio, L. Audí, H. Elsedfy, 2017, Pediatric Research.

AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity

M. Fernández-Cancio, L. Audí, T. Akçay, 2014, Andrology.

A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.

J. Bilbao, L. Audí, L. Castaño, 1998, European journal of endocrinology.

Analytical performance and clinical usefulness of two binding assays for growth hormone binding protein (GHBP) measurement: high performance liquid chromatography (HPLC)-gel filtration and dextran-coated charcoal adsorption.

L. Audí, J. Bel, X. Formiguera, 1997, Clinica chimica acta; international journal of clinical chemistry.

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, A. Carrascosa, L. Audí, 2009, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.

J. Martínez-Mora, M. Fernández-Cancio, M. Clemente, 2011, International journal of andrology.

SRD5A2 gene Q126R exon 2 point mutation in unrelated Spanish male pseudohermaphrodite patients.

M. Fernández-Cancio, A. Carrascosa, L. Audí, 2005 .

Clinical, Biochemical and Morphologic Diagnostic Markers in an Infant Male Pseudohermaphrodite Patient with Compound Heterozygous Mutations (G115D/R246W) in SRD5A2 Gene

M. Fernández-Cancio, A. Carrascosa, L. Audí, 2004, Hormone Research in Paediatrics.

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

E. Tizzano, G. Guerra‐Júnior, E. García-Arumí, 2017, Sexual Development.

Male pseudohermaphroditism due to Leydig cell agenesia and absence of testicular LH receptors

J. Martínez-Mora, L. Audí, N. Torán, 1991, Clinical endocrinology.

Assay‐Dependent Results of Immunoassayable Spontaneous 24‐Hour Growth Hormone Secretion in Short Children

A. Carrascosa, L. Audí, A. Lucas, 1990, Acta paediatrica Scandinavica. Supplement.

Clinical usefulness of growth hormone secretion elicited by acute stimulation tests

A. Carrascosa, L. Audí, 2013, Clinical endocrinology.

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

M. Fernández-Cancio, M. Clemente, M. Gussinyé, 2013, Hormone Research in Paediatrics.

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

M. Fernández-Cancio, M. Clemente, M. Gussinyé, 2010, Hormone Research in Paediatrics.

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.

M. Fernández-Cancio, M. Clemente, M. Gussinyé, 2008, The Journal of clinical endocrinology and metabolism.

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.

M. Fernández-Cancio, M. Clemente, M. Gussinyé, 2008, The Journal of clinical endocrinology and metabolism.

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.

H. Wollmann, M. Fernández-Cancio, M. Clemente, 2006, The Journal of clinical endocrinology and metabolism.

Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.

M. Nistal, M. Fernández-Cancio, A. Carrascosa, 2004, Journal of andrology.

WARFARIN TO PREVENT THROMBOEMBOLISM IN CHRONIC ATRIAL FIBRILLATION

M. Monreal, L. Audí, M. Foz, 1989, The Lancet.

Occult Thyrotoxicosis in Patients with Atrial Fibrillation and an Acute Arterial Embolism

M. Monreal, E. Lafoz, L. Audí, 1988, Angiology.

GNAS1 Mutation and Cbfa1 Misexpression in a Child with Severe Congenital Platelike Osteoma Cutis

L. Audí, S. Mathur, F. Gannon, 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Molecular basis of CYP19A1 deficiency in a 46, XX patient with R550W mutation in POR: Expanding the PORD phenotype.

N. Kagawa, C. Flück, A. Pandey, 2020, The Journal of clinical endocrinology and metabolism.

Clinical Usefulness of Urinary Growth Hormone Measurements in Normal and Short Children According to Different Expressions of Urinary Growth Hormone Data

A. Carrascosa, L. Audí, A. Lucas, 1992, Pediatric Research.

Longitudinal Pubertal Growth According to Age at Pubertal Growth Spurt Onset: Data from a Spanish Study Including 458 Children (223 Boys and 235 Girls)

M. Fernández-Cancio, M. Clemente, M. Gussinyé, 2009, Journal of pediatric endocrinology & metabolism : JPEM.

Growth hormone/insulin-like growth factors axis in children undergoing cardiac surgery

A. Carrascosa, L. Audí, J. Balcells, 2001, Critical care medicine.

Hypothalamo‐Hypophyseal‐Testicular Function in Prepubertal Boys with Acute Lymphoblastic Leukemia following Chemotherapy and Testicular Radiotherapy

A. Carrascosa, L. Audí, N. Torán, 1984, Acta paediatrica Scandinavica.

Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.

M. Nistal, C. Flück, A. Pandey, 2012, The Journal of clinical endocrinology and metabolism.

Intracellular Oxidant Activity, Antioxidant Enzyme Defense System, and Cell Senescence in Fibroblasts with Trisomy 21

V. Rodríguez-Sureda, C. Domínguez, L. Audí, 2015, Oxidative medicine and cellular longevity.

STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases

C. Flück, A. Pandey, N. Camats, 2014, Clinical endocrinology.

17-ketosteroid reductase deficiency in an adult patient without gynaecomastia but with female psychosexual orientation.

J. Martínez-Mora, L. Audí, E. Esmatjes, 1983, Acta endocrinologica.

Gonadectomy In Conditions Affecting Sex Development - A Registry-Based Cohort Study.

K. Lachlan, S. Poyrazoglu, F. Darendeliler, 2021, European journal of endocrinology.

Development of Laboratory Investigations in Disorders of Sex Development

N. Camats, M. Fernández-Cancio, L. Audí, 2017, Sexual Development.

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

C. Flück, N. Camats, M. Fernández-Cancio, 2019, Front. Genet..

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

J. A. Blanco, C. Flück, N. Camats, 2015, PloS one.

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’

R. McGowan, K. McElreavey, A. Greenfield, 2018, European journal of endocrinology.

Morphologic and Metabolic Development of Human Fetal Epiphyseal Chondrocytes in Primary Culture

A. Carrascosa, L. Audí, Á. Ballabriga, 1985, Pediatric Research.

Regional Variations in the Management of Testicular or Ovotesticular Disorders of Sex Development

G. Shaw, L. Audí, N. Josso, 2011, Sexual Development.

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".

Andy Greenfield, Olaf Hiort, Nils Krone, 2018, European journal of endocrinology.

Leptin in relation to resumption of menses in women with anorexia nervosa

C. Mantzoros, A. Vidal-Puig, M. Gussinyé, 1998, Molecular Psychiatry.

Multiple Sclerosis Polymorphisms in the Susceptibility to Gender-Associated Differences of Perforin

X. Montalban, A. Navarro, A. Muntasell, 2010 .

Human growth hormone (GH1) gene polymorphism map in a normal-statured adult population

M. Fernández-Cancio, M. Clemente, M. Gussinyé, 2007, Clinical endocrinology.

Down's Syndrome: Altered Chondrogenesis in Fetal Rib

M. García-Ramírez, A. Carrascosa, L. Audí, 1998, Pediatric Research.

Methods to study cartilage and bone development.

L. Audí, D. Chrysis, O. Nilsson, 2011, Endocrine development.

Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity.

C. Flück, A. Pandey, M. Fernández-Cancio, 2010, The Journal of clinical endocrinology and metabolism.

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

B. Frey, B. Dick, C. Flück, 2018, Pharmaceuticals.

Androgen metabolism by human fetal epiphyseal cartilage and its chondrocytes in primary culture.

A. Carrascosa, L. Audí, Á. Ballabriga, 1984, The Journal of clinical endocrinology and metabolism.

Vascular Endothelial Growth Factor Is Expressed in Human Fetal Growth Cartilage

M. García-Ramírez, A. Carrascosa, L. Audí, 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Molecular Basis of Aromatase Deficiency in a 46, XX Patient with Mutation of Arginine 550 to Tryptophan in POR: Expanding the Endocrine Phenotype in PORD

N. Kagawa, C. Flück, A. Pandey, 2019 .

The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)

L. Audí, M. Granada, 2021, Advances in laboratory medicine.

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop

M. Krawczyński, V. Iotova, O. Hiort, 2018, Sexual Development.

Determinant factors of gender identity: a commentary.

H. Meyer-Bahlburg, C. Quigley, L. Audí, 2012, Journal of pediatric urology.

Addressing gaps in care of people with conditions affecting sex development and maturation

M. Maghnie, M. Dattani, K. McElreavey, 2019, Nature Reviews Endocrinology.

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

C. Flück, N. Camats, M. Fernández-Cancio, 2014, PloS one.

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

A. Schaller, C. Flück, N. Camats, 2018, European Journal of Human Genetics.

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

A. Sinclair, Amaia Rodríguez, C. Flück, 2018, Front. Endocrinol..

Transient hyperandrogenism in 2 preterm twins with exposure to antiretrovirals.

L. Audí, Lola Falcón-Neyra, E. García García, 2017, Medicina clinica.

Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency.

M. Dattani, A. Carrascosa, L. Audí, 2011, The Journal of clinical endocrinology and metabolism.

Areal Bone Mineral Density of the Lumbar Spine in 80 Premature Newborns. A Prospective and Longitudinal Study

M. Clemente, A. Carrascosa, L. Audí, 2004, Journal of pediatric endocrinology & metabolism : JPEM.

ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation

A. Carrascosa, L. Audí, L. Castaño, 2008, European Journal of Pediatrics.

Long-Term GH Therapy: Epidemiology and Auxologic Outcome

C. Martí-henneberg, L. Audí, S. Webb, 2002, Hormone Research in Paediatrics.

Response to Letter to the Editor: “A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness”

J. Hirschhorn, S. Vedantam, A. Dauber, 2020, The Journal of clinical endocrinology and metabolism.

Woman with virilizing congenital adrenal hyperplasia and leydig cell tumor of the ovary

L. Audí, R. Yahyaoui, I. Esteva, 2014, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes

Weixiong Zhang, A. Templeton, R. Gershoni-baruch, 2016, G3: Genes, Genomes, Genetics.

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.

H. Wollmann, M. Clemente, A. Carrascosa, 2006, The Journal of clinical endocrinology and metabolism.

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, L. Audí, Á. Ferrández, 2012 .

The Dosage Dependency of Growth and Maturity in Growth Hormone Deficiency Treated with Human Growth Hormone

L. Audí, N. Potau, E. Vicens-Calvet, 1984, Acta paediatrica Scandinavica.

Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF‐I receptor (IGF1R) gene

M. Fernández-Cancio, A. Carrascosa, L. Audí, 2013, Clinical endocrinology.

LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study

C. Flück, N. Camats, M. Fernández-Cancio, 2015, Sexual Development.