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Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.
Tosca L, Brisset S, Petit FM, Lecerf L, Rousseau G, Bas C, Laroudie M, Maurin ML, Tapia S, Picone O, Prevot S, Goossens M, Labrune P, Tachdjian G. Tosca L, et al. Eur J Hum Genet. 2010 Aug;18(8):882-8. doi: 10.1038/ejhg.2010.46. Epub 2010 Apr 28. Eur J Hum Genet. 2010. PMID: 20424646 Free PMC article.
Genotype-phenotype correlation in 13q13.3-q21.3 deletion.
Tosca L, Brisset S, Petit FM, Metay C, Latour S, Lautier B, Lebas A, Druart L, Picone O, Mas AE, Prévot S, Tardieu M, Goossens M, Tachdjian G. Tosca L, et al. Eur J Med Genet. 2011 Sep-Oct;54(5):e489-94. doi: 10.1016/j.ejmg.2011.06.004. Epub 2011 Jun 21. Eur J Med Genet. 2011. PMID: 21741501
Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility.
Guediche N, Tosca L, Kara Terki A, Bas C, Lecerf L, Young J, Briand-Suleau A, Tou B, Bouligand J, Brisset S, Misrahi M, Guiochon-Mantel A, Goossens M, Tachdjian G. Guediche N, et al. Among authors: tosca l. Reprod Biomed Online. 2012 Jan;24(1):72-82. doi: 10.1016/j.rbmo.2011.08.014. Epub 2011 Sep 10. Reprod Biomed Online. 2012. PMID: 22116069
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.
Young J, Metay C, Bouligand J, Tou B, Francou B, Maione L, Tosca L, Sarfati J, Brioude F, Esteva B, Briand-Suleau A, Brisset S, Goossens M, Tachdjian G, Guiochon-Mantel A. Young J, et al. Among authors: tosca l. Hum Reprod. 2012 May;27(5):1460-5. doi: 10.1093/humrep/des022. Epub 2012 Mar 12. Hum Reprod. 2012. PMID: 22416012
SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.
Briand-Suleau A, Martinovic J, Tosca L, Tou B, Brisset S, Bouligand J, Delattre V, Giurgea I, Bachir J, Folliot P, Goumy C, Francannet C, Guiochon-Mantel A, Benachi A, Vermeesch J, Tachdjian G, Vago P, Goossens M, Métay C. Briand-Suleau A, et al. Among authors: tosca l. Eur J Med Genet. 2014 Mar;57(4):174-80. doi: 10.1016/j.ejmg.2013.12.013. Epub 2014 Jan 29. Eur J Med Genet. 2014. PMID: 24486774 Free article.
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23.
Brisset S, Slamova Z, Dusatkova P, Briand-Suleau A, Milcent K, Metay C, Simandlova M, Sumnik Z, Tosca L, Goossens M, Labrune P, Zemankova E, Lebl J, Tachdjian G, Sedlacek Z. Brisset S, et al. Among authors: tosca l. Mol Cytogenet. 2014 Feb 28;7(1):17. doi: 10.1186/1755-8166-7-17. Mol Cytogenet. 2014. PMID: 24581273 Free PMC article.
Messenger RNA- versus retrovirus-based induced pluripotent stem cell reprogramming strategies: analysis of genomic integrity.
Steichen C, Luce E, Maluenda J, Tosca L, Moreno-Gimeno I, Desterke C, Dianat N, Goulinet-Mainot S, Awan-Toor S, Burks D, Marie J, Weber A, Tachdjian G, Melki J, Dubart-Kupperschmitt A. Steichen C, et al. Among authors: tosca l. Stem Cells Transl Med. 2014 Jun;3(6):686-91. doi: 10.5966/sctm.2013-0158. Epub 2014 Apr 15. Stem Cells Transl Med. 2014. PMID: 24736403 Free PMC article.
84 results