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| (especial para SIIC © Derechos reservados) |
| Irene Mademont-Soler* Autor invitado por SIIC |
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 Profundizar Referencias bibliográficas |
| Cai G, Edelmann L, Goldsmith JE, Cohen N, Nakamine A, Reichert JG, Hoffman EJ, Zurawiecki DM, Silverman JM, Hollander E, Soorya L, Anagnostou E, Betancur C, Buxbaum JD. Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. BMC Med Genomics 1:50, 2008. Chagnon P, Schneider R, Hébert J, Fortin PR, Provost S, Belisle C, Gingras M, Bolduc V, Perreault C, Silverman E, Busque L. Identification and characterization of an Xp22.33;Yp11.2 translocation causing a triplication of several genes of the pseudoautosomal region 1 in an XX male patient with severe systemic lupus erythematosus. Arthritis Rheum 54(4):1270-1278, 2006. Faas BH, Nillesen W, Vermeer S, Weghuis DO, de Leeuw N, Smits AP, van Ravenswaaij-Arts CM. Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities. Eur J Med Genet 51(6):511-519, 2008. Gignac J, Danis K, Tihy F, Lemyre E. Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations. Am J Med Genet A 140A:2768-2775, 2006. Johnson B, Simpson LL. Screening for congenital heart disease: a move toward earlier echocardiography. Am J Perinatol 24(8):449-456, 2007. Kleeman L, Bianchi DW, Shaffer LG, Rorem E, Cowan J, Craigo SD, Tighiouart H, Wilkins-Haug LE. Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype. Prenat Diagn 29(13):1213-1217, 2009. Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM. Detection of genomic imbalances by array based comparative genomic hybridization in fetuses with multiple malformations. J Med Genet 42:121-128, 2005. Mademont-Soler I, Morales C, Madrigal I, Margarit E, Bruguera J, Clusellas N, Martínez JM, Borrell A, Sánchez A, Soler A. Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation. Am J Med Genet A 149A(12):2820-2823, 2009. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43(6):478-489, 2006. Schneider A, Benzacken B, Guichet A, Verloes A, Bonneau D, Collot N, Dastot-Le-Moal F, Goossens M, Taine L, Landais E, Gaillard D, Doco-Fenzy M. Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia. Eur J Hum Genet 16(6):680-687, 2008. Shaffer LG, Coppinger J, Alliman S, Torchia BA, Theisen A, Ballif BC, Bejjani BA. Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens. Prenat Diagn 28(9):789-795, 2008. Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, Cheung SW. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A 146A(17):2242-51, 2008. Stegmann AP, Jonker LM, Engelen JJ. Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements. Eur J Med Genet 51(2):93-105, 2008. Van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC. Further delineation of the chromosome 14q terminal deletion syndrome. Am J Med Genet 110(1):65-72, 2002. Vialard F, Molina Gomes D, Leroy B, Quarello E, Escalona A, Le Sciellour C, Serazin V, Roume J, Ville Y, de Mazancourt P, Selva J. Array comparative genomic hybridization in prenatal diagnosis: another experience. Fetal Diagn Ther 25(2):277-284, 2009. Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 1:42, 2006. |
| Otros artículos de Irene Mademont-Soler |
| Mademont-Soler I, Morales C, Armengol L, Soler A, Sánchez A. Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32). Am J Med Genet A 152A(9):2308-12, 2010. Morales C, Cuatrecasas E, Mademont-Soler I, Clusellas N, Peruga E, Català V, Garrido C, Milà M, Soler A, Sánchez A. Non-mosaic trisomy 20 of paternal origin in chorionic villus and amniotic fluid also detected in fetal blood and other tissues. Eur J Med Genet 53(4):197-200, 2010. Mademont-Soler I, Morales C, Madrigal I, Margarit E, Bruguera J, Clusellas N, Martínez JM, Borrell A, Sánchez A, Soler A. Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation. Am J Med Genet Part A 149:2820-23, 2009. Morales C, Mademont-Soler I, Armengol L, Milà M, Badenas C, Andrés S, Soler A, Sánchez A. Characterization of a 5.8 Mb de novo interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalities. Cytogenet Genome Res 125:334-40, 2009. Soler A, Clusellas N, Mademont-Soler I, Morales C, Margarit E, Sánchez A. El diagnóstico citogenética prenatal aquí y ahora. Validez actual y futura del cariotipo. Prog Diag Trat Prenat 21:187-92, 2009. Morales C, Soler A, Badenas C, Rodríguez-Revenga L, Nadal A, Martínez JM, Mademont-Soler I, Borrell A, Milà M, Sánchez A. Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcome. Fertil Steril 92(1):393, 2009. Mademont-Soler I, Morales C, Sánchez A. Retraso mental autosómico dominante. Sociedad Iberoamericana de Información Científica (SIIC), www.siicsalud.com, 2009. |
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Acerca del trabajo completo |
| CONDICIONAN LA UTILIDAD DE LA MLPA SUBTELOMERICA EN EL DIAGNOSTICO PRENATAL |
| Título original en castellano LA MLPA SUBTELOMÉRICA ES REALMENTE ÚTIL EN EL DIAGNÓSTICO PRENATAL? |
| Autores Irene Mademont-Soler1, Anna Soler2, Carme Morales3, Aurora Sánchez4, Núria Clusellas5 |
| 1 Bióloga, Hospital Clínic de Barcelona, Spain, Especialista 2 Bióloga, Hospital Clínic de Barcelona, Especialista 3 Bióloga, Hospital Clínic de Barcelona, Especialista 4 Médico, Hospital Clínic de Barcelona, Consultor 5 Bióloga, Hospital Clínic de Barcelona, Especialista |
| Acceso a la fuente original Prenatal Diagnosis |
| http://www3.interscience.wiley.com/cgi-bin/jhome/2252 |
| El artículo se relaciona estrictamente con las especialidades de siicsalud | |
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ua90911 |
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