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15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J. Vanlerberghe C, et al. Among authors: puechberty j. Eur J Med Genet. 2015 Mar;58(3):140-7. doi: 10.1016/j.ejmg.2015.01.002. Epub 2015 Jan 14. Eur J Med Genet. 2015. PMID: 25596525
Analysis of sperm aneuploidy by PRINS.
Pellestor F, Andréo B, Puechberty J, Lefort G, Sarda P. Pellestor F, et al. Among authors: puechberty j. Methods Mol Biol. 2006;334:49-59. doi: 10.1385/1-59745-068-5:49. Methods Mol Biol. 2006. PMID: 16861752
Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions.
Bhatt S, Moradkhani K, Mrasek K, Puechberty J, Manvelyan M, Hunstig F, Lefort G, Weise A, Lespinasse J, Sarda P, Liehr T, Hamamah S, Pellestor F. Bhatt S, et al. Among authors: puechberty j. Eur J Hum Genet. 2009 Jan;17(1):44-50. doi: 10.1038/ejhg.2008.144. Epub 2008 Aug 6. Eur J Hum Genet. 2009. PMID: 18685557 Free PMC article.
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. Among authors: puechberty j. 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.
66 results