Page 87 - MEMOCiberer014-ENG

Most relevant scientific articles
• maliKoVa J, camats n, FernánDez-cancio m, HeatH K, González i, caimarí m, Del campo m, albisu m, KolousKoVa s, auDí l, FlücK ce . Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic fac- tor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis . PLoS One . 2014 Aug 14;9(8):e104838 . doi: 10 .1371/journal .pone .0104838 . eCollection 2014 . PubMed PMID: 25122490; PubMed Central PMCID: PMC4133263 .
• aKcay t, FernanDez-cancio m, turan s, Güran t, auDi l, bereKet a . AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity . Andrology . 2014 Jul;2(4):572-8 . doi: 10 .1111/j .2047-2927 .2014 .00215 .x . Epub 2014 Apr 16 . PubMed PMID: 24737579 .
• cox K, bryce J, JianG J, roDie m, sinnott r, alKHaWari m, arlt W, auDi l, balsamo a, bertelloni s, cools m, DarenDeliler F, Drop s, ellaitHi m, Guran t, et al . Novel associations in disorders of sex development: findings from the I-DSD Registry . J Clin Endocrinol Metab . 2014 Feb;99(2):E348-55 . doi: 10 .1210/jc .2013-2918 . Epub 2013 Dec 3 . Pub- Med PMID: 24302751; PubMed Central PMCID: PMC3955252 .
• Gimeno a, García-Giménez Jl, auDí l, toran n, anDaluz p, Dasí F, Viña J, pallarDó FV . Decreased cell proliferation and higher oxidative stress in fibroblasts from Down Syndrome fetuses . Preliminary study . Biochim Biophys Acta . 2014 Jan;1842(1):116-25 . doi: 10 .1016/j .bbadis .2013 .10 .014 . Epub 2013 Oct 31 . PubMed PMID: 24184606 .
• camats n, panDey aV, FernánDez-cancio m, FernánDez Jm, orteGa am, uDHane s, anDaluz p, auDí l, Flück CE . STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a no- vel splice mutation and review of reported cases . Clin Endocrinol (Oxf) . 2014 Feb;80(2):191-9 . doi: 10 .1111/ cen .12293 . Epub 2013 Aug 17 . Review . PubMed PMID: 23859637 .casteràs a, KratzscH J, FerránDez a, zaFón c, carrascosa a, mesa J. Clinical challenges in the management of isolated GH deficiency type IA in adulthood . En- docrinol Diabetes Metab Case Rep . 2014;2014:130057 . doi: 10 .1530/EDM-13-0057 . Epub 2014 Feb 1 . PubMed PMID: 24683479; PubMed Central PMCID: PMC3965272 .
Highlights
Institution: Fundación Hospital Universitario Vall D´hebron - Institut de Recerca (VHIR) Contact: Hospital Valle Hebrón · Passeig Vall D’hebron, 119-129 . 08035 Barcelona Tel .: (+34) 93 489 30 64 / 93 489 40 30 (Dra . Audí)
Translational activities: Specialized paediatric endocrinology consultations on skeletal growth, disorders of sex development (DSD), familial glucocorticoid deficiency and factors predisposing to rickets .
Vall d’Hebron Institut de Recerca (VHIR) Biobank: paediatric endocrinology colection .
Colaborations: Spanish Societies (SEEP, SEEN and SEQC), European Society (ESPE) for clinical, biochemical and genetic Guidance and Recommendations .
Reference Centre for Congenital Hypothyroidism Diagnosis and Therapy . Catalan Advisory Commission for GH therapy . European Project COST BM1303 for DSD international studies .
Transfer activities: auxological growth data informatization (Auxolog Programme) . Databases: 1) DSD in the ISCIII, coordinated by the Group; 2) International DSD Registry .
CIBERER Activities: Orphanet advisory for paediatric endocrinology . CIBER advisory for paediatric endocrinology .
Colaboration with paediatric groups in our hospital (neumology, neurology and metabolic diseases, clinical ge- netics and immunodeficiencies .
www .ciberer .es 87