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www.ciberer.es
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Most relevant Martínez-Frías Ml, Martínez-Fernández Ml. A highly specific coding system for the different
structural chromosomal alterations. Am J Med Genet A. 2013 Apr, 161A:732–736. PMID:
scientific
23495121. doi: 10.1002/ajmg.a.35787. Epub 2013 Mar 12.
articles
• c-r Mc, s J, P F JM , b-s e, V c a, Md-
arrascosaoMerouelaardalernándezerMeJoánchezidaloMPanyaco
nald a, tébar Gil r, Martínez-Fernández Ml, Martínez-Frías Ml. A 2.84 Mb deletion at 21q22.11
in a patient clinically diagnosed with Marden-Walker syndrome. Am J Med Genet A. 2013
Sep; 161(9): 2281-2290. PMID: 23894067. doi: 10.1002/ajmg.a.35862. Epub 2013 Jul 25.
• V oG, b s M c, c cs, o Jd, r J Ji, b-s
alleJoenítezánchezdel ánoVasntiVerosuiziMénezerMeJoánchez
e, Martínez-Frías Ml. Patient with disorganization syndrome: surgical procedures, pathology,
and potential causes. Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):781-785. PMID:
24307594. doi: 10.1002/bdra.23203. Epub 2013 Dec 4.
•
Report: “Primary Prevention of Congenital Anomalies: Recommendations on Policies to be
considered for the primary prevention of congenital anomalies in National Plans and Strate-
gies on Rare Diseases”. Autores: d t eurocat P P W
oMenicaaruscioand riMaryreVentionorkinG
GrouP, 2013. http://www.eurocat-network.eu/content/EUROCAT-EUROPLAN-Primary-Pre-
ventions-Reccomendations.pdf
ó
• sanchis calVo a, roselló-sastre e, Marcos PuiG b, balanzá chancosa r, Pérez ebri Ml, alcoVer ba-
rrachina i, caMarasa lillo n, berMeJo-sánchez e, escandón alVarez J. [Evolution of the frequency
of congenital defects in newborn infants and fetuses from terminations of pregnancy after
prenatal diagnosis in the period 1982-2009]. Med Clin (Barc). 2013 Aug 17;141(4):152-8.
PMID: 22841468. doi: 10.1016/j.medcli.2012.05.021. Epub 2012 Jul 28. Spanish.
í
• ECEMC’s Clinical Network (Spanish Collaborative Study of Congenital Malformations)
Highlights
(more than 400 physicians from all over Spain).
• Clinical-dysmorphologic assessment of 850 newborn infants with congenital defects (CD)
á
in Spain.
• Cytogenetic studies (high-resolution and molecular): 225 samples in ECEMC’s frame.
• 474 consultations from physicians to SITTE (Spanish Teratology Information Service by
í
Phone).
• 3,737 consultations to SITE (Phone Information Service for Pregnant Women).
• Epidemiological Surveillance of CD in Spain. á
íé
• European Surveillance of CD in EUROCAT (www.eurocat-network.eu)
• World epidemiological surveillance of CD in ICBDSR (www.icbdsr.org)
• “EUROCAT Joint Action (2011-2013)”, EAHC, EU Health Programme 2008-2013. PI: Helen
Dolk. Ref.2010 22 04.
• Project: “Clinical and etiological research on congenital atypical craniofacial clefts
(CACFC)”. PI: E. Bermejo-Snchez. PI12/00759. í
• Agreement ISCIII-ASEREMAC 2013. “Research on the clinical-etiological and epidemiolo-
í
gical aspects of the infants born with malformations and oter CD”. PI: M.L. Martínez-Frías.
• Agreements ASEREMAC-Health Administration of different Autonomous Communities.
“Clinica, epidemiological, cytogenetic and teratological research on infants with malforma-
tions and other CD”. PI: M.L. Martnez-Fras.
• Vice-Chair of ICBDSR’s Executive Committee.
• Participation in ENTIS (http://www.entis-org.eu/) and OTIS (https://www.mothertobaby.org). 13
20
• Clinical guidances: Publication of 6 “Propositus”. T
• Edicin del “Boletn del ECEMC: Revista de Dismorfologa y Epidemiología” VI, 2 (2012)
OR
P
(http://revistas.isciii.es/revistas.jsp?id=ECEMC ). RE
• Teaching at Master Early Attention (Mlaga) and Oficial Master “Current knowledge on
L
Rare Diseases”. Universidad Internacional de Andaluca. A
NU
• Organization of:
N
- “XXXVI ECEMC’s Annual Meeting” and “Up-date Course on the research of CD”. Estepona. A
R /
2.2 credits CFCPS Comunidad de Madrid-SNS. Ref.13/7653. E
- “Conference on Dysmorphology. Definition of the different concepts and their utility ER
B
for clinical practice in the molecular era”. 0.7 credits CFCPS Comunidad de Madrid-SNS. CI
Ref.13/9556). ENS, Madrid.
- “40th Annual Meeting ICBDSR”. San Jos (Costa Rica)
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