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Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype.
Gouas L, Kémény S, Beaufrère AM, Eymard-Pierre E, Pebrel-Richard C, Tchirkov A, Lemery D, Laurichesse-Delmas H, Vago P, Goumy C. Gouas L, et al. Among authors: vago p. Cytogenet Genome Res. 2015;146(1):28-32. doi: 10.1159/000435865. Epub 2015 Jul 21. Cytogenet Genome Res. 2015. PMID: 26201711
Prenatal ultrasound diagnosis of a 48,XXYY syndrome.
Kemeny S, Pebrel-Richard C, Gouas L, Veronese L, Lemery D, Tchirkov A, Goumy C, Vago P. Kemeny S, et al. Among authors: vago p. Morphologie. 2013 Jun;97(317):65-7. doi: 10.1016/j.morpho.2013.01.001. Epub 2013 Mar 7. Morphologie. 2013. PMID: 23473874
De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.
Goumy C, Gay-Bellile M, Eymard-Pierre E, Kemeny S, Gouas L, Déchelotte P, Gallot D, Véronèse L, Tchirkov A, Pebrel-Richard C, Vago P. Goumy C, et al. Among authors: vago p. Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):507-11. doi: 10.1002/bdra.23246. Epub 2014 Apr 18. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24753315
142 results