martes, 8 de abril de 2014
BIBLIOGRAFÍA
Aquí os dejamos las fuentes de las que nos hemos ayudado para poder elaborar nuestro blog, así si tenéis alguna duda o queréis información extra podéis consultarlas:
- SAVVA, G.M.; WALKER, K. y MORRIS, J.K. (2010).
The maternal age-specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 (Down syndrome).
Prenat Diagn 30, 57-64. - J.H. Edwards, D.G. Harnden, A.H. Cameron, M.V. Crosse, O.H. Wolff
A new trisomic syndrome
Lancet, 1 (1960), pp. 787–789 - PETEK, E.; PERTL, B.; TSCHERNIGG, M.; BAUER, M.; MAYR, J.; WAGNER, K. y KROISEL, P.M. (2003).
Characterisation of a 19-year-old “long-term survivor” with Edwards syndrome.
Genet Couns 14, 239-244. - TENNAKOON, J.; KANDASAMY, Y.; ALCOCK, G. y KOH, T.H.H.G. (2008).
Edwards syndrome with double trisomy.
Singapore Med J 49, e190. - http://www.orpha.net/consor/cgibin/ResearchTrials_ResearchProjects.php?lng=ES&data_id=102426&Nombre%20del%20proyecto%20de%20investigaci%F3n=NIPSIGEN---Clinical-translation-of-non-invasive-prenatal-diagnosis--NIPD--for-single-gene-disorders--Health-Innovation-Challenge-Fund-&title=NIPSIGEN---Clinical-translation-of-non-invasive-prenatal-diagnosis--NIPD--for-single-gene-disorders--Health-Innovation-Challenge-Fund-&search=ResearchTrials_ResearchProjects_Simple
- Extrapolation of maternal weight in sequential aneuploidy screening.
Krantz DA, Cuckle HS.
Prenat Diagn. 2014 Mar 19. doi: 10.1002/pd.4360. [Epub ahead of print]
PMID:24648373 - Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA.
Porreco RP, Garite TJ, Maurel K, Marusiak B; for the Obstetrix Collaborative Research Network, Ehrich M, VAN Den Boom D, Deciu C, Allan Bombard; for Sequenom, Inc.
PMID:24657131 - Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome).
- Pruszewicz A, Wiskirska-Woźnica B, Wojnowski W, Czerniejewska H, Jackowska J, Jarmuż M, Szyfter K, Leszczyńska M.
- The trisomy 18 syndrome. Cereda A, Carey JC.
- Prevalence of aneuploidies in products of spontaneous abortion: Interest of FISH and MLPA.
- Analysis of Cell-Free DNA in Maternal Blood in Screening for Aneuploidies: Meta-Analysis.
- Gil MM, Akolekar R, Quezada MS, Bregant B, Nicolaides KH.
- Genética humana: fundamentos y aplicaciones en medicina. Solari. Paranamericana.
- Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects. Rosa RF, Rosa RC, Zen PR, Graziadio C, Paskulin GA.
- The trisomy 18 syndrome. Cereda A, Carey JC.
- http://centros5.pntic.mec.es/ies.victoria.kent/Rincon-C/Curiosid2/rc-147.pdf(investigaciones)
- http://zl.elsevier.es/es/revista/anales-pediatria-37/tratamiento-rehabilitador-paciente-sindrome-edwards-larga-supervivencia-13116721-cartas-al-editor-2008
- http://sindrome.info/edwards/
- http://www.nlm.nih.gov/medlineplus/spanish/ency/article/001661.HTML
- http://centros5.pntic.mec.es/ies.victoria.kent/Rincon-C/Curiosid2/rc-147.pdf
- http://www.trisomia18.cl/es-para-padres
- http://www.ecured.cu/index.php/S%C3%ADndrome-de-Edwards
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