Laura Audí

Laura Audí

UNVERIFIED PROFILE

Are you Laura Audí?   Register this Author

Register author
Laura Audí

Laura Audí

Publications by authors named "Laura Audí"

Are you Laura Audí?   Register this Author

51Publications

763Reads

21Profile Views

Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism.

J Clin Endocrinol Metab 2019 Oct;104(10):4630-4638

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2019-00108DOI Listing
October 2019

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

Nat Rev Endocrinol 2019 Oct 12;15(10):615-622. Epub 2019 Aug 12.

Growth and Development Research Unit, Vall d'Hebron Research Institute (VHIR), Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41574-019-0238-yDOI Listing
October 2019

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

Front Genet 2019 29;10:746. Epub 2019 Aug 29.

Growth and Development Research Unit, Vall d'Hebron Research Institute (VHIR), Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2019.00746DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6726737PMC
August 2019

Development of Laboratory Investigations in Disorders of Sex Development.

Sex Dev 2018 13;12(1-3):7-18. Epub 2017 Sep 13.

Paediatric Endocrinology Unit, Vall d'Hebron Research Institute and Hospital, Centre for Biomedical Research Network on Rare Diseases (CIBERER), Barcelona, Spain.

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/479719
Publisher Site
http://dx.doi.org/10.1159/000479719DOI Listing
November 2018

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

Eur J Hum Genet 2018 09 11;26(9):1329-1338. Epub 2018 Jun 11.

Pediatric Endocrinology and Diabetology, Department of Pediatrics and Department of Biomedical Research, University Children's Hospital Bern, 3010, Bern, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-018-0202-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117353PMC
September 2018

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".

Eur J Endocrinol 2018 Jul 4. Epub 2018 Jul 4.

R McGowan, Department of Clinical Genetics, Queen Elizabeth University Hospital Campus, Glasgow, United Kingdom of Great Britain and Northern Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-18-0256DOI Listing
July 2018

Transient hyperandrogenism in 2 preterm twins with exposure to antiretrovirals.

Med Clin (Barc) 2018 01 31;150(2):81-82. Epub 2017 Aug 31.

Unidad de Endocrinología Pediátrica, Hospital Vall d'Hebron, Barcelona, España.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.medcli.2017.07.005DOI Listing
January 2018

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

Pediatr Res 2017 02 3;81(2):356-363. Epub 2016 Nov 3.

Pediatric Endocrinology Research Unit, VHIR (Vall d'Hebron Institut de Recerca), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, CIBERER (Center for Biomedical Research on Rare Diseases), Instituto de Salud Carlos III, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/pr.2016.222DOI Listing
February 2017

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

Sex Dev 2015 17;9(3):144-54. Epub 2015 Apr 17.

Department of Pediatrics and Clinical Research, University Children's Hospital, Bern, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000381575DOI Listing
July 2016

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

G3 (Bethesda) 2016 05 3;6(5):1251-66. Epub 2016 May 3.

Rappaport Family Faculty of Medicine, The Technion - Israel Institute of Technology, Haifa 30196, Israel, Haifa, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1534/g3.115.026773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856077PMC
May 2016

Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family.

Sex Dev 2015 29;9(2):75-9. Epub 2015 Jan 29.

Paediatric Endocrinology, Department of Paediatrics, Virgen Macarena University Hospital, Sevilla, Spain.

View Article

Download full-text PDF

Source
http://www.naspag.org/resource/resmgr/Mini_Reviews/Complete_
Web Search
http://dx.doi.org/10.1159/000371617DOI Listing
February 2016

Intracellular oxidant activity, antioxidant enzyme defense system, and cell senescence in fibroblasts with trisomy 21.

Oxid Med Cell Longev 2015 17;2015:509241. Epub 2015 Mar 17.

Center for Biomedical Network Research on Rare Diseases (CIBERER), 08028 Barcelona, Spain ; Biochemistry and Molecular Biology Research Center for Nanomedicine, Vall d'Hebron Research Institute, 08035 Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2015/509241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380103PMC
December 2015

Promoter-dependent activity on androgen receptor N-terminal domain mutations in androgen insensitivity syndrome.

Sex Dev 2014 6;8(6):339-49. Epub 2014 Dec 6.

Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/369266
Publisher Site
http://dx.doi.org/10.1159/000369266DOI Listing
September 2015

Past experiences of adults with disorders of sex development.

Authors:
Laura Audí

Endocr Dev 2014 12;27:138-48. Epub 2014 Sep 12.

Vall d'Hebron Research Institute (VHIR), Paediatric Endocrinology Research Group, Hospital Vall d'Hebron, Centre for Biomedical Research Network on Rare Diseases (CIBERER), Autonomous University of Barcelona, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000363639DOI Listing
June 2015

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

Gynecol Endocrinol 2014 Aug 7;30(8):549-52. Epub 2014 Apr 7.

Endocrinology Department, Andalusian Gender Team, IBIMA, Carlos Haya Hospital , Malaga , Spain .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/09513590.2014.907260DOI Listing
August 2014

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

Clin Endocrinol (Oxf) 2014 Feb 17;80(2):191-9. Epub 2013 Aug 17.

Pediatric Endocrinology, Department of Pediatrics and Department of Clinical Research, University Children's Hospital Bern, Bern, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cen.12293DOI Listing
February 2014

Novel associations in disorders of sex development: findings from the I-DSD Registry.

J Clin Endocrinol Metab 2014 Feb 3;99(2):E348-55. Epub 2013 Dec 3.

University of Glasgow (K.C., J.B., J.J., M.R., R.S., S.F.A.), Child Health, School of Medicine, Royal Hospital for Sick Children, Yorkhill, and National eScience Centre, Glasgow G3 8SJ, United Kingdom; University of Melbourne (R.S.), eResearch, Melbourne, Parkville VIC 3010, Australia; Al-Amiri Hospital (M.A.), Paediatric Department, MOH, Safat 13015, Kuwait; University of Birmingham (W.A., N.K.), Centre for Endocrinology, Diabetes and Metabolism, School of Clinical & Experimental Medicine, Birmingham B15 2TT, United Kingdom; Vall d'Hebron Research Institute (L.A.) and CIBERER, Barcelona, 08035 Spain; University of Bologna (A.B.), Department of Gynecologic, Obstetric and Pediatric Sciences, Operative Unit Pediatrics, 40138, Bologna, Italy; University Hospital Pisa (S.B.), Servizio di Medicina dell'Adolescenza - UO Pediatria, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy; University Hospital Ghent & University of Ghent (M.C.), Department of Pediatric and Adolescent Endocrinology and Diabetology, 185-9000 Gent, Belgium; Istanbul University (F.D.), Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, 34452 İstanbul, Turkey; Sophia Children's Hospital/Erasmus MC (S.D.), Division of Pediatric Endocrinology, Department of Pediatrics, Rotterdam, The Netherlands; Al-Neelain Medical Research Centre (M.E.), Faculty of Medicine and Health Sciences, Al-Neelain University and Biotechnology Lab, Ahfad University for Women, 00249 Khartoum, Sudan; Marmara University Hospital (T.G.), Istanbul, Pediatric Endocrinology and Diabetes, Fevzi Cakmak Mh. 34899 Ustkaynarca/Pendik-Istanbul-Turkey; University of Lübeck (O.H.), Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, 23560 Lübeck, Germany; University Hospital of Schleswig Holstein (P.-M. H.), Department of General Pediatrics, University of Kiel, 24105 Kiel, Germany; University of Cambridge (I.H.), Department of Paediatri

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2013-2918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3955252PMC
February 2014

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

Biochim Biophys Acta 2014 Jan 31;1842(1):116-25. Epub 2013 Oct 31.

Department of Anatomy and Human Embryology, Faculty of Medicine, University of Valencia, Av/Blasco Ibáñez, 15, E46010 Valencia, Spain; Fundación Investigación Hospital Clínico Universitario de Valencia, Instituto de Investigación INCLIVA, Avda. Blasco Ibáñez 17, E46010 Valencia, Spain. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2013.10.014DOI Listing
January 2014

Clinical usefulness of growth hormone secretion elicited by acute stimulation tests.

Clin Endocrinol (Oxf) 2013 Aug 20;79(2):168-9. Epub 2013 May 20.

Paediatric Endocrinology Research Unit, VHIR (Vall d'Hebron Research Institute), Paediatric Service, Vall d'Hebron Hospital, CIBERER (Centre for Biomedical Research on Rare Diseases), Instituto de Salud Carlos III, Autonomous University of Barcelona, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cen.12173DOI Listing
August 2013

Determinant factors of gender identity: a commentary.

J Pediatr Urol 2012 Dec 14;8(6):597-601. Epub 2012 Nov 14.

University College London Hospitals, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpurol.2012.09.009DOI Listing
December 2012

Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.

Clin Endocrinol (Oxf) 2012 Oct;77(4):564-74

Departments of Paediatrics and Paediatric Endocrinology Research Unit, Vall d'Hebron Institut de Recerca (VHIR), Hospital Vall d'Hebron, Autonomous University of Barcelona, CIBERER (Centre for Biomedical Research on Rare Diseases), Instituto de Salud Carlos III, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/j.1365-2265.2012.04410.x
Publisher Site
http://dx.doi.org/10.1111/j.1365-2265.2012.04410.xDOI Listing
October 2012

Methods to study cartilage and bone development.

Endocr Dev 2011 22;21:52-66. Epub 2011 Aug 22.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000328127DOI Listing
December 2011

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

J Clin Endocrinol Metab 2011 Sep 29;96(9):E1457-60. Epub 2011 Jun 29.

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular, LIM/42, Disciplina de Endocrinologia, Hospital das Clinicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-900, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2011-0170DOI Listing
September 2011

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

J Clin Endocrinol Metab 2011 Jan 20;96(1):E65-72. Epub 2010 Oct 20.

Pediatric Endocrinology and Diabetology, University Children's Hospital Bern, Bern, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2010-1056DOI Listing
January 2011

Gender-associated differences of perforin polymorphisms in the susceptibility to multiple sclerosis.

J Immunol 2010 Nov 4;185(9):5392-404. Epub 2010 Oct 4.

Centre d'Esclerosi Múltiple de Catalunya, Unitat de Neuroimmunologia Clínica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4049/jimmunol.1000102DOI Listing
November 2010

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

Eur J Pediatr 2009 Jan 15;168(1):65-9. Epub 2008 Apr 15.

Pediatric Endocrinology Department, Hospital Universitario Vall d'Hebron, Autonomous University Barcelona, Paseo Vall d'Hebron, 119-129, 08035, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-008-0710-5DOI Listing
January 2009

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

J Clin Endocrinol Metab 2008 May 19;93(5):1743-50. Epub 2008 Feb 19.

Department of Pediatrics, University of Pisa, Via Roma 67, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2007-1413DOI Listing
May 2008

[Influence of the age at the start of pubertal growth on adult height].

Med Clin (Barc) 2008 May;130(17):645-9

Servicio de Pediatría y de Endocrinología Pediátrica, Hospital Universitario Materno-Infantil Vall d'Hebron, Universidad Autónoma de Barcelona. CIBERER Instituto de Salud Carlos III, Barcelona, España.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1157/13120692DOI Listing
May 2008

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.

J Clin Endocrinol Metab 2008 Jan 9;93(1):147-53. Epub 2007 Oct 9.

Department of Pediatrics, Institut de Recerca, Hospital Vall d'Hebron, Centre for Biomedical Research on Rare Diseases, Autonomous University, 08035, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2007-1182DOI Listing
January 2008

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

Clin Endocrinol (Oxf) 2007 Feb;66(2):258-68

Department of Pediatrics and Pediatric Endocrinology, Hospital Materno-Infantil Vall d'Hebron, Autonomous University of Barcelona, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-2265.2006.02718.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1859974PMC
February 2007

Genetically determined gonadal tumours in children.

J Pediatr Endocrinol Metab 2005 Dec;18 Suppl 1:1215-25

Unidad Investigación Endocrinología y Nutrición Pediátricas Hospital Vall d'Hebron Paseo Vall d'Hebron 119, Barcelona 08035, Spain

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem.2005.18.s1.1215DOI Listing
December 2005

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

J Androl 2004 May-Jun;25(3):412-6

Unidad Investigación Endocrinología y Nutrición Pediátricas, Hospital Vall d'Hebron, Barcelona, Spain.

View Article

Download full-text PDF

Source
November 2004

[Association of vitamin D receptor gene polymorphism with type 1 diabetes mellitus in two Spanish populations].

Med Clin (Barc) 2004 Sep;123(8):286-90

Unidad de Investigación en Endocrinología y Nutrición Pediátricas, Servicio de Pediatría, Hospital Vall d'Hebron, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0025-7753(04)74494-2DOI Listing
September 2004

Areal bone mineral density of the lumbar spine in 80 premature newborns: a prospective and longitudinal study.

J Pediatr Endocrinol Metab 2004 Jul;17(7):959-66

Pediatric Endocrinology Unit and Neonatology Unit, Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem.2004.17.7.959DOI Listing
July 2004

Fetal growth regulation and intrauterine growth retardation.

J Pediatr Endocrinol Metab 2004 Mar;17 Suppl 3:435-43

Children 's Hospital Vall d'Hebron, Autonomous University of Barcelona, Spain.

View Article

Download full-text PDF

Source
March 2004

Clinical and biochemical determinants of bone metabolism and bone mass in adolescent female patients with anorexia nervosa.

Pediatr Res 2002 Apr;51(4):497-504

Adolescent Endocrinology Unit and Pediatric Endocrinology and Nutrition Research Unit, Pediatric Hospital, Hospital Vall d'Hebron, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1203/00006450-200204000-00016DOI Listing
April 2002