Page 63 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
camats n, FernándeZ-cancio m, audí l, mullis Pe, moreno F, gonZáleZ casado i, lóPeZ-siguero JP, cor- riPio r, BermúdeZ de la Vega Ja, Blanco Ja, FlücK ce. Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype. PLoS One. 2015 Nov 16;10(11):e0142831. doi: 10.1371/journal.pone.0142831. eCollection 2015. PubMed PMID: 26580071; PubMed Central PMCID: PMC4646284.
camats n, audí l, FernándeZ-cancio m, andaluZ P, mullis
with trisomy 21. Oxid Med Cell Longev. 2015;2015:509241. doi: 10.1155/2015/509241. Epub 2015 Mar 17. PubMed PMID: 25852816; PubMed Central PMCID: PMC4380103.
BermúdeZ de la Vega Ja, FernándeZ-cancio m, Bernal s, audí l. Complete androgen insensitivity syndrome as- sociated with male gender identity or female precocious puberty in the same family. Sex Dev. 2015;9(2):75-9. doi: 10.1159/000371617. Epub 2015 Jan 29. PubMed PMID: 25633053.
Pe, carrascosa a, Flück CE. LRH-1 May Rescue SF-1 De- ficiency for Steroidogenesis: An in vitro and in vivo Study. Sex Dev. 2015;9(3):144-54. doi: 10.1159/000381575. Epub 2015 Apr 17. PubMed PMID: 25896302.
rodrígueZ-sureda V, Vilches á, sáncheZ o, audí l, domíngueZ c. Intracellular oxidant activity, antioxidant en- zyme defense system, and cell senescence in fibroblasts
Highlights
During 2015, Group activity has been oriented to- wards translational medicine in the aspects of pa- tient management, diagnoses and specialized con- sultations on RD related to pediatric endocrinology. Of major impact are fields related to skeletal growth, disorders of sex development, familial glucocorti- coid deficiency and rickets predisposing factors. Collaborative actions with SEEP, SEEN, SEQC and ESPE were active for the creation and revision of Recommendations and Guidelines for protocols of clinical, biochemical and genetic diagnoses.
Our centre is the reference centre for the Pro- grammme of Neonatal Screening of Congenital Hy- pothyroidism in Catalunya. The Group collaborates with the Working Groups in the SEEP, the SEEN and ESPE for the study and databases of Disorders of Sex Development (DSD) Registries. Our Group also collaborates with the International database (I-DSD) and the COST Project BM1303 for the collaboraive study of DSD.
candel Pau J, castillo salinas F, PeraPoch lóPeZ J, carrascosa leZcano a, sáncheZ garcía o, llurBa oliVé e. [Perinatal outcome and cardiac dysfunction in preterm growth-restricted neonates in relation to placental impair- ment severity]. An Pediatr (Barc). 2015 May 13. pii: S1695- 4033(15)00119-8. doi: 10.1016/j.anpedi.2015.03.014. [Epub ahead of print] Spanish. PubMed PMID: 25982472.
L. Audí is member of the Orphanet Spanish Scien- tific Committee. Our Group has a collection of Pedi- atric Endocrinology samples in the Vall d’Hebron Research Institute Biobank (BBHUVH).
In 2015, we have implemented new techniques of next generation sequencing which afforded obtain- ing molecular diagnoses in paediatric endocrinology patients previously lacking it.
We maintained clinical and research collaborations with other pediatric groups in our hospital that also work on RD (pediatric neumology, neurology, immu- nology, metabolic and other genetic diseases).
Institution: Fundación Hospital Universitario Vall d’Hebron - Institut de Recerca (VHIR) Contact: Hospital Vall d’Hebron · Passeig Vall d’Hebron, 119-129. 08035 Barcelona Tel.:934893064/934894030(Dr.Audí)
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