Page 87 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
martíneZ-FernándeZ ml, FernándeZ-toral J, llano-riVas i, BermeJo-sáncheZ e, martíneZ-Frías ml. Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date. Am J Med Genet A. 2015 Apr; 167A(9):2034- 41. doi: 10.1002/ajmg.a.37117. PMID: 25899082.
arroYo-carrera i, de ZaldíVar tristancho ms, Berme- Jo-sáncheZ e, martíneZ-FernándeZ ml, lóPeZ-laFuente a, macdonald a, Zúñiga á, luis gómeZ-sKarmeta J, luisa martíneZ-Frías m. Deletion 1q43-44 in a patient with clini-
BermeJo-sáncheZ e, BrooKs BP, maduro V, dallaPiccola B, ramos FJ, chung hY, le caignec c, martins F, JacYK WK, maZZanti l, Brunner hg, BaKKers J, lin s, malicdan mc, BoerKoel cF, gahl Wa, de Vries BB, Van haelst mm, ZenKer m, marKello tc. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet. 2015 Jul;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. PMID: 26119818.
martíneZ F, marín-reina P, sanchis-calVo a, PereZ-aY- tés a, oltra s, roselló m, maYo s, monFort s, PantoJa
cal diagnosis of Warburg-Micro syndrome. Am J Med Genet A. 2015 Jun;167(6): 1243-51. doi: 10.1002/ajmg.a.36878. PMID: 25899426.
marchegiani s, daVis t, tessadori F, Van haaFten g, Brancati F, hoischen a, huang h, ValKanas e, PuseY B, schanZe d, Venselaar h, Vulto-Van silFhout at, WolFe la, tiFFt cJ, ZerFas Pm, ZamBruno g, KarimineJad a, saB- Bagh-Kermani F, lee J, tsoKos mg, lee cc, FerraZ V, da silVa em, steVens ca, roche n, Bartsch o, Farndon P,
Highlights
• Maintenance of ECEMC (Spanish Collaborative Study of Congenital Malformations) Clinical Net- work (> 400 physicians throughout Spain) • Clinical- dysmorphological evaluation of 1,016 newborns and fetuses with congenital defects (CD) in Spain • Cytogenetic study (high resolution and molecular): 155 samples from ECEMC • Attending medical consultations by telephone:501 to SITTE (Teratol- ogy Information Service, Spain) and 2,148 to SITE (Teratology Information Service for general public) • Epidemiological Surveillance of CD in Spain • Eu- ropean Surveillance of CD in the EUROCAT network (www.eurocat-network.eu) • Worldwide epidemio- logical surveillance of CD in the ICBDSR network (www.icbdsr.org) • Chair of the Executive Commit- tee of ICBDSR • Participation in the constitution of the EUROCAT Association of European Registries of Congenital Anomalies • Participation in activities of the Joint Research Centre-EUROCAT • Participa- tion in the organisation of World Birth Defects Day • Start of a research project on descriptive aspects and genotype-phenotype correlation in patients with 5p- syndrome. Sponsored by the “Fundación 5p-“. PI: M.L. Martínez-Frías • Development of the
J, orellana c. Novel mutations of NFIX gene causing Mar- shall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. Pediatr Res. 2015 Nov;78(5):533-9. doi: 10.1038/pr.2015.135. PMID: 26200704.
arroYo carrera i, de ZaldíVar ms, martín r, Begemann m, soellner l, eggermann t. Microdeletions of the 7q32.2 im- printed region are associated with Silver-Russell syndrome features. Am J Med Genet A. 2015 Dec 10. doi: 10.1002/ ajmg.a.37492. [Epub ahead of print] PMID: 26663145.
research project: “Research on the clinical and eti- ological aspects of atypical congenital craniofa- cial clefts”. IP: E. Bermejo-Sánchez. PI12/00759 • Teaching part of the Official Master “Current knowl- edge on Rare Diseases”. Universidad Internacional de Andalucía • Teaching activities and attendance of national and international conferences in the CD field • Organisation of the “XXXVIII ECEMC Annual Meeting” and “Update Course in research on CD”. Aviles, 15-17 October 2015 [2,2 CME cred- its Madrid-NHS. File: 07-AFOC-04710.2/2015] • Participation and organisation of the “42nd Annu- al Meeting of the International Clearinghouse for Birth Defects, Surveillance and Research”, Spoleto (Italy), 10-14 September 2015 • Two editions of the “Clinical Teratology Conference”. Organised by the Training Service of the General Directorate (GD) of Human Resources and the Public Health Observa- tory of the Public Health GD, Health Administration of Castilla and Leon, and the Research Centre on Congenital Anomalies (CIAC).Valladolid and Palen- cia • Publication of 3 “Propositus: ECEMC Informa- tion Factsheets” http://www.fundacion1000.es/ boletines-ecemc.
Institution: Asociación Española para el Registro y Estudio de las Malformaciones Congénitas (ASEREMAC) Contact: Centro de Investigación Sobre Anomalias Congenitas · Avda. Monforte de Lemos, 5. Pabellón 3, 1a planta. 28029 Madrid · Tel.: 91 822 24 24. FAX : 91 387 75 41. E.mail: [email protected]
Website: http://www.fundacion1000.es
CIBERER I Annual report 2015 I 87