Page 51 - CIBERER2016-ENG

Most relevant scientific articles
• Perez-Cerda C., Giros M.L., Serrano M., Ecay M.J., Gort L., Perez Duenas B. et al. A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis. Journal of Pediatrics. 2016.
• Yubero D., Brandi N., Ormazabal A., Garcia-Cazorla A., Perez-Duenas B., Campistol J. et al. Targeted next generation sequencing in patients with inborn errors of metabolism. PLoS ONE. 2016;11(5).
• Sanchez-Diaz G., Arias-Merino G., Villaverde-Hueso A., Morales-Piga A., Abaitua-Borda I., Hens M. et al. Monitoring Huntington’s Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns. Neuroepidemiology. 2016;155-163.
• Garcia Teresa M.A., Porto Abal R., Rodriguez Torres S., Garcia Urabayen D., Garcia Martinez S., Trang H. et al. Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data. Anales de Pediatria. 2016.
• Arroyo-Carrera I., De Zaldivar-Tristancho M.S., Martin-Fernandez R., Vera-Torres M., De Buitrago- Amigo J.F.G., Botet-Rodriguez J.. RIT1: A novel gene associated with Noonan syndrome. Revista de Neurologia. 2016;63(8):358-362.
Hightlights
• Maintainance of ECEMC’s Clinical Network (Spanish Collaborative Study of Congenital Malformations - more than 400 physicians).
• Clinical-dysmorphological assessment: 932 newborns or fetuses with birth defects (BD).
• Epidemiological surveillance of BD: Spain (in ECEMC), Worldwide (with ICBDSR www.icbdsr.org), Europe (with
EUROCAT www.eurocat-network.eu), and Establishment in ICBDSR of guidelines for worldwide surveillance
of BD related to Zika virus.
• Cytogenetics laboratory: 194 studies (ECEMC’s setting).
• SITTE (Spanish Teratology Information Service): 692 physician’s consultations.
• SITE (Telephon Information Service for Pregnant Women): 2,527 consultations.
• Confirmation as Chair of ICBDSR’s Executive Committee (Eva Bermejo-Sánchez).
• Doctoral Thesis of the CIBERER’s hired personnel.
• Project: “Research on the clinicla and etiological aspects of congenital atypical cranio-facial clefts”. PI: E.
Bermejo-Sánchez. PI12/00759.
• Participation in 17 subprojects of the “Collaborative project on the mortality/survival of selected non-cardiac
defects” of ICBDSR.
• Participation in the international Project “ICBDSR-Global Epidemiology of Gastroschisis Project”.
• Co-authorship of the book “Enfermedades Raras” (M. Posada, V. Alonso, E Bermejo. Ed. Catarata-ISCIII. ISBN
978-84-9097-224-3).
• Teaching: Official Magisters “Conocimiento actual de las Enfermedades Raras” (UNIA), “Máster de
Farmacoepidemiología y Farmacovigilancia” (Fac. Medicina. UAH), and “IX Curso de Especialista en
Discapacidad Infantil, Diagnóstico y Rehabilitación” (Título Propio UCM).
• Invited speaker: 3 international congresses, 2 national.
• 15 teaching activities. Several national and international congresses on BD.
• Eva Bermejo participated as Invited Expert designated by MSSSI, in the “Meeting on RD Research”. Brussels.
• Organization of: “XXXIX Reunión Anual del ECEMC” and “Curso de Actualización sobre la Investigación de los
DC” (2.2 credits); “43 Annual Meeting of the International Clearinghouse for Birth Defects Surveillance and Research”, Germany; Second “World Birth Defects Day”, together with worldwide health organizations, on March 3, 2016; Two editions of the “Jornada sobre Teratología Clínica”. Consejería de Sanidad de Castilla y León, Avila and Zamora.
• Publication of 1 “Propositus: Hoja Informativa del ECEMC” (http://www.fundacion1000.es/boletines-ecemc)
ER
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