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ozkinay F, rauch a, renieri a, tinschert s, utine Ge, Vilain c, ViVarelli r, zWeier c, nürnberG
P, r s, V J, l hJ, z M, W b. A comprehensive molecular
ahMannerMeeschüdeckeeschniGkollnik
study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and
clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013 Dec
20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1. (FI:7.69).

• G-n e, s-i s, d-J r, V b, r-r a, r
uillénaVarroánchezGlesiasoMinGoiMénezictoriauiziquelMeábano
a, loidi l, beiras a, González-Méndez b, raMos a, lóPez-González V, ballesta-Martínez MJ,
Garrido-PuMar M, aGuiar P, ruibal a, requena Jr, araúJo-Vilar d. A new seipin-associated
neurodegenerative síndrome. J Med Genet. 2013 Jun;50(6):401-9. doi: 10.1136/

jmedgenet-2013-101525. (FI: 5.7).

• Vera-carbonell a, lóPez-González V, baFalliu Ja, Piñero-Fernández J, susMozas J, sorli M, lóPez-
Pérez r, Fernández a, Guillén-naVarro e, lóPez-eXPósito i. Pre- and postnatal findings in a patient

with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome. Am
J Med Genet A. 2013 Sep;161(9):2369-75. doi: 10.1002/ajmg.a.36103. Epub 2013 Jul 25.

Highlights
RESEARCH GRANTS óéééá
• “Clinical phenotype and molecular mechanism of a new neurodegenerative síndrome

associated to R265X mutation in the seipin gene”. FIS PI10/02873. From 2010 to 2013.
Funding: 102.850,00 euros. PI: Jesús Requena. CI: MR Domingo Jiménez and E Guillén

Navarro.
• “From the channel to the classical arrhythmia. Clinical, genetics and functional study of

channelopathies”. FIS. PI11/02459. From 2012 to 2014. Funding: 56.000 euros. PI: Juan
Ramn Gimeno Blanes
ó
ñ
• ”Genetic approach to the Rett síndrome and its variants: clinical and molecular characte-
rization of the overlapping neuropsychiatrics phenotypes” Departamento de Sanidad del

Pais Vasco. Fundacin vasca de Innovación e Investigación sanitarias. Project number: ó
2011111090. From 2012 to 2015. Funding: 61.500,00 euros. PI: M. Isabel Tejada; CI: E ó

Guilln Navarro and MR Domingo Jiménez

CLINICAL TRIALS
• A randomized, double blind, 12-week, parallel group, placebo-controlled study of the effi-

cacy and safety of RO4917523 in patients with Fragile X Syndrome. NP27936. Sponsor:
F-Hoffmann-La Roche, LTD.

• Ranol-MCH “Effect study of Ranolazine in the myocardial ischemic in patients with hyper-
trophic cardiomyopathy” Sponsor: Menarini. EPA-SP. RGB-RAN 2013-01.
á
• “Tolerance and safety of dronedarone and other antiarrhythmic treatment of atrial fibrilla-
tion in hypertrophic cardiomyopathy”. Sponsor: Sanofi.

ORGANIZED ACTIVITIES

• Annual Meeting of the Working group of Family Heart Disease of the Spanish Society of
Cardiology. 22-23 March 2013 Hotel Silken Siete Coronas. Murcia.

• II Cardiogenetic day. 29 November 2013 Hospital Universitario Virgen de la Arrixaca. Accre-
dited by University Hospital Virgen de la Arrixaca and University of Murcia.

• Achondroplasia and Motherhood day. University Hospital Virgen de la Arrixaca. Murcia,

December 5, 2013.
13
CLINICAL PRACTICE GUIDELINES
20
T
• Guilln-naVarro e, blasco aJ, Gutierrez-solana lG, couce Ml, cancho-candela r, lázaro P; Gru- OR
h e. [Clinical practice guideline for the management of Hunter syndro- P
Po de trabaJo untersPaaRE
me]. Med Clin (Barc). 2013 Nov 16;141(10):453.e1-13. doi: 10.1016/j.medcli.2013.07.010. L
Epub 2013 Sep 21. Presentacin: Hotel Abba Garden. Barcelona September 3rd 2013.
A
éNU
BOOK CHAPTER N
A
• Guilln-naVarro e. What is the achondroplasia and how is it diagnosed? In: Guilln-naVarro R /
E
e, hernndez Morcuende i, coneJero casares a, Gonzlez VieJo Ma. I have a child with achondro- ER
plasia and now what?. Asociacin Crecer (eds). Diciembre de 2013. Murcia. ISBN: 84-695- B
CI
8637-8; pp.7-13

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