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Most relevant scientific articles
• Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific struc- tural phenotypes in the tectorial membrane . leGan pK, GooDyear rJ, morín m, mencia a, pollarD H, olaVa- rrieta l, KorcHaGina J, moDamio-HoybJor s, mayo F, moreno F, moreno-pelayo ma, ricHarDson Gp . Hum Mol Genet; 2014 May 15 . 23(10):2551-68 .
• Mutations in PRPS1 causing syndromic or non-syndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counselling . marta GanDía, Joaquín FernánDez-toral, Juan solanellas, maría Do- mínGuez-ruiz, elena Gómez-rosas, Francisco J. Del castillo, manuela Villamar, miGuel a. moreno-pelayo, iGnacio Del castillo . Pediatric Research; 2014 .
• Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families . sáncHez-alcuDia r, cortón m, áVila-FernánDez a, zurita o, tatu sD, pérez-carro r, Fernan- Dez-san Jose p, lopez-martinez má, Del castillo FJ, millan Jm, blanco-Kelly F, García-sanDoVal b, lopez-molina mi, riVeiro-alVarez r, ayuso c. Invest Ophthalmol Vis Sci; 2014 Nov . 55(11):7562-71 .
• Similar phenotypes caused by mutations in OTOG and OTOGL . oonK am, leiJenDecKers Jm, HuyGen pl, scHra- Ders m, Del campo m, Del castillo i, teKin m, Feenstra i, beynon aJ, Kunst Hp, sniK aF, Kremer H, aDmiraal rJ, penninGs rJ . Ear Hear; 2014 35(3):e84-91 .
• Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5 . seco cz, oonK am, DomínGuez-ruiz m, Draaisma Jm, GanDía m, oostriK J, neVelinG K, Kunst Hp, HoeFsloot lH, Del castillo i, penninGs rJ, Kremer H, aDmiraal rJ, scHraDers m . Eur J Hum Genet; 2014 en prensa .
Highlights
Institution: Servicio Madrileño de Salud Contact: Hospital Ramón y Cajal · Ctra . Colmenar, km 9 . 28034 Madrid Phone: (+34) 91 336 85 41 / 91 336 89 66 · E .mail: mmorenop@salud .madrid .org
• It has been activated the regularization procedure on group size that is currently composed of 11 members .
• We are picking up the publication pace by means of 5 manuscripts currently in preparation / publication . To emphasize the identification of the first gene associated with unilateral deafness in collaboration with the team of Prof . Hannie Kremer .
• Attempt to establish new collaborations both within the program Sensorineural pathology (reference group ACCI with Isabel Varela) as the gestation of SPÄNEX project (IPs . Pablo Lapunzina and Miguel Angel Mo- reno) as an example of leadership of a project resulting the benefit of the consortium and the rest of the extramural scientific community .
• Organization of an international symposium in collaboration with Professor Isabel Varela within the Ramón Areces Foundation due to scheduling conflicts has been taken place on 5-6 March 2015 .
• We have received in the last annual two researchers from the University of Campinas (CNPQ program) . This program (visitor Pesquisador) allowed in this case my shift at the University of Campinas for 1 month for the implementation of the latest techniques in the field of hearing loss (OTO-NGS-panel and OTO-array-CGH) we have generated in our laboratory .
• Fund raising in the last call of FIS with projects (PI14 / 1162; IP Ignacio del Castillo and PI14 / 0948, IP: Miguel Angel Moreno) .
• As a consolidated group I lead in our research institute IRYCIS, we are part of consoricio IRYCIS who has received one of the projects of excellence granted to research institutes call 2013 (PE13 / 00040) . In the field of innovation we hane renovated the innovation platform ITEMAS (node IRYCIS, PT13 / 0006/0002) of which I am IP in the Ramón y Cajal Hospital .
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