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Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.
Jacquemont ML, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, Heron D, de Blois MC, Prieur M, Vekemans M, Carter NP, Munnich A, Colleaux L, Philippe A. Jacquemont ML, et al. Among authors: sanlaville d. J Med Genet. 2006 Nov;43(11):843-9. doi: 10.1136/jmg.2006.043166. Epub 2006 Jul 13. J Med Genet. 2006. PMID: 16840569 Free PMC article.
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR. Maas NM, et al. Among authors: sanlaville d. J Med Genet. 2007 Sep;44(9):562-9. doi: 10.1136/jmg.2007.049510. Epub 2007 Jun 23. J Med Genet. 2007. PMID: 17586838 Free PMC article.
Pure proximal deletion of chromosome 21 and kyphosis.
Keren B, Bernardin C, Toutain A, Heron D, Fouquet B, Laudier B, Telvi L, Romana SP, Vekemans M, Sanlaville D. Keren B, et al. Among authors: sanlaville d. Eur J Med Genet. 2007 Nov-Dec;50(6):469-74. doi: 10.1016/j.ejmg.2007.08.001. Epub 2007 Aug 15. Eur J Med Genet. 2007. PMID: 17890169
TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.
Schluth-Bolard C, Till M, Labalme A, Rey C, Banquart E, Fautrelle A, Martin-Denavit T, Le Lorc'h M, Romana SP, Lazar V, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: sanlaville d. Eur J Med Genet. 2008 Mar-Apr;51(2):156-64. doi: 10.1016/j.ejmg.2007.12.003. Epub 2007 Dec 24. Eur J Med Genet. 2008. PMID: 18255367
[New chromosomal syndromes].
Schluth-Bolard C, Till M, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: sanlaville d. Pathol Biol (Paris). 2008 Sep;56(6):380-7. doi: 10.1016/j.patbio.2008.03.006. Epub 2008 May 7. Pathol Biol (Paris). 2008. PMID: 18467039 Review. French.
Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.
Schluth-Bolard C, Till M, Rafat A, Labalme A, Le Lorc'h M, Banquart E, Angei C, Cordier MP, Romana SP, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: sanlaville d. Eur J Med Genet. 2008 Nov-Dec;51(6):622-30. doi: 10.1016/j.ejmg.2008.06.009. Epub 2008 Jul 12. Eur J Med Genet. 2008. PMID: 18674648
296 results