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Most relevant scientific articles
• A new overgrowth syndrome is due to mutations in RNF125 . tenorio J, mansilla a, Valencia m, martí- nez-Glez V, romanelli V, arias p, castreJón n, poletta F, Guillén-naVarro e, GorDo G, mansilla e, García- santiaGo F, González-casaDo i et al . Hum Mutat . 2014 Dec;35(12):1436-41 . doi: 10 .1002/humu .22689 . PMID: 25196541
• European recommendations for primary prevention of congenital anomalies: a joined effort of EU- ROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans . taruscio D, arriola l, balDi F, barisic i, bermeJo-sáncHez e, biancHi F, calzolari e, carbone p, curran r, et al . . Public Health Genomics . 2014;17(2):115-23 . doi: 10 .1159/000360602 . Epub 2014 Apr 3 . PMID: 24714026
• Interstitial deletion 14q22 .3-q23 .2: genotype-phenotype correlation . martínez-Frías ml, oceJo-Vinyals JG, arteaGa r, martínez-FernánDez ml, macDonalD a, pérez-belmonte e, bermeJo-sáncHez e, martínez s . Am J Med Genet A . 2014 Mar;164A(3):639-47 . doi: 10 .1002/ajmg .a .36330 . Epub 2013 Dec 19 . PMID: 24357464
• Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome . martínez-FernánDez ml, bermeJo-sáncHez e, FernánDez b, macDonalD a, FernánDez-toral J, martínez-Frías ml. am J meD Genet a. 2014 Feb;164A(2):338-45 . doi: 10 .1002/ajmg .a .36224 . Epub 2013 Dec 5 . Review . PMID: 24311462
Highlights
Institution: Asoc . Española para el Registro y Estudio de las Malformaciones Congénitas (ASEREMAC) Contact: Ctro . de Investigación sobre Anomalías Congénitas (CIAC) Centro mixto ISCIII - ASEREMAC Instituto de Salud Carlos III . Madrid ECEMC-CIAC · Av . de Monforte de Lemos no 3-5 . Pabellón 3-1a pl . Phone: (+34) 91 822 24 24 · E .mail: mlmartinez .frias@isciii .es · Website: www .fundacion1000 .es
• Maintenance of Clinical Network of ECEMC (> 400 physicians throughout Spain). • Clinical-dysmor- phological evaluation of 757 newborns with congenital defects (CD) in Spain. • Cytogenetic study (high resolution and molecular): 215 samples from ECEMC network. • Attending 538 medical consul- tations to SITTE (Teratology Information Service, Spain) and 3,988 calls to SITE (Teratology Information Service for general public). • Epidemiological Surveillance of CD in Spain. • European Surveillance of CD in the EUROCAT network (www.eurocat-network.eu). • Worldwide epidemiological surveillance of CD in the ICBDSR network (www.icbdsr.org). • Continuation of work developed in the WP7 of “EUROCAT Joint Action (2011-2013)”, EAHC, EU Health Programme 2008-2013 . IP: Helen Dolk . Ref.2010 22 04. • Development of the Project: “Research on the clinical and etiological aspects of atypical congenital craniofacial clefts”. IP: E. Bermejo-Sánchez. PI12 /00759. • Vice-Chair of the Exe- cutive Committee of ICBDSR. • Publication of 5 “Propositus: ECEMC Information Factsheets” (16,613 downloads in http://www.fundacion1000.es/boletines-ecemc). • Professor of the Official Master “Cu- rrent knowledge on Rare Diseases”. Universidad Internacional de Andalucía. • Professor of “Specialist Course in Childhood Disability” Universidad Complutense de Madrid • Multiple teaching activities and attendance of national and international conferences in the CD field. • Organisation of the “XXXVII Annual ECEMC Meeting” and “Update Course of CD Investigation” . Toledo, 23 to 25 October 2014 [2,2 CME credits Madrid-NHS. File: 07-AFOC-04934.1 / 2014]. • Participation and organisation of the “41st Annual Meeting of the International Clearinghouse for Birth Defects, Surveillance and Re- search”, Helsinki (Finland), 14-16 September 2014. • Four meetings of the “Clinical Teratology Con- ference” . Organised by the Training Service of the General Directorate (GD) of Human Resources and the Public Health Observatory of the Public Health GD, Health Administration of Castilla and Leon, and the Research Center on Congenital Anomalies (CIAC) . Valladolid, Leon, Burgos and Segovia .
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