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Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder.
Schneider A, Puechberty J, Ng BL, Coubes C, Gatinois V, Tournaire M, Girard M, Dumont B, Bouret P, Magnetto J, Baghdadli A, Pellestor F, Geneviève D. Schneider A, et al. Among authors: pellestor f. Am J Med Genet A. 2015 Dec;167A(12):3031-7. doi: 10.1002/ajmg.a.37350. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26333717
Complex chromosomal rearrangements: origin and meiotic behavior.
Pellestor F, Anahory T, Lefort G, Puechberty J, Liehr T, Hédon B, Sarda P. Pellestor F, et al. Hum Reprod Update. 2011 Jul-Aug;17(4):476-94. doi: 10.1093/humupd/dmr010. Epub 2011 Apr 11. Hum Reprod Update. 2011. PMID: 21486858 Review.
148 results