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Page 1
[New technologies for the human genome exploration].
Keren B, Schluth-Bolard C, Egea G, Sanlaville D. Keren B, et al. Among authors: sanlaville d. Arch Pediatr. 2010 Nov;17(11):1605-8. doi: 10.1016/j.arcped.2010.06.015. Epub 2010 Sep 16. Arch Pediatr. 2010. PMID: 20843672 French.
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.
Borck G, Rio M, Sanlaville D, Redon R, Molinari F, Bacq D, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, de Blois MC, Prieur M, Vekemans M, Carter NP, Munnich A, Colleaux L. Borck G, et al. Among authors: sanlaville d. Clin Genet. 2004 Aug;66(2):122-7. doi: 10.1111/j.1399-0004.2004.00288.x. Clin Genet. 2004. PMID: 15253762
[Microarray CGH: principle and use for constitutional disorders].
Sanlaville D, Lapierre JM, Coquin A, Turleau C, Vermeesch J, Colleaux L, Borck G, Vekemans M, Aurias A, Romana SP. Sanlaville D, et al. Arch Pediatr. 2005 Oct;12(10):1515-20. doi: 10.1016/j.arcped.2005.07.014. Epub 2005 Sep 8. Arch Pediatr. 2005. PMID: 16153813 French.
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
Distal Xq duplication and functional Xq disomy.
Sanlaville D, Schluth-Bolard C, Turleau C. Sanlaville D, et al. Orphanet J Rare Dis. 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. Orphanet J Rare Dis. 2009. PMID: 19232094 Free PMC article. Review.
Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype.
Schluth-Bolard C, Sanlaville D, Labalme A, Till M, Michel-Calemard L, Rafat A, Zabot MT, Nicolino M, Guibaud L, Edery P. Schluth-Bolard C, et al. Among authors: sanlaville d. Am J Med Genet A. 2009 Nov;149A(11):2584-7. doi: 10.1002/ajmg.a.32772. Am J Med Genet A. 2009. PMID: 19504602 No abstract available.
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J. Schluth-Bolard C, et al. Among authors: sanlaville d. Eur J Med Genet. 2009 Sep-Oct;52(5):291-6. doi: 10.1016/j.ejmg.2009.05.011. Epub 2009 Jun 6. Eur J Med Genet. 2009. PMID: 19505601 Free article.
298 results