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Page 1
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.
Andrieux J, Villenet C, Quief S, Lignon S, Geffroy S, Roumier C, de Leersnyder H, de Blois MC, Manouvrier S, Delobel B, Benzacken B, Bitoun P, Attie-Bitach T, Thomas S, Lyonnet S, Vekemans M, Kerckaert JP. Andrieux J, et al. Among authors: kerckaert jp. J Med Genet. 2007 Aug;44(8):537-40. doi: 10.1136/jmg.2006.048736. Epub 2007 Apr 27. J Med Genet. 2007. PMID: 17468296 Free PMC article.
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frébourg T, Dubourg C, Andrieux J, Bonneau D. Le Meur N, et al. Among authors: kerckaert jp. J Med Genet. 2010 Jan;47(1):22-9. doi: 10.1136/jmg.2009.069732. Epub 2009 Jul 9. J Med Genet. 2010. PMID: 19592390 Free PMC article.
Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.
Houeijeh A, Andrieux J, Saugier-Veber P, David A, Goldenberg A, Bonneau D, Fouassier M, Journel H, Martinovic J, Escande F, Devisme L, Bisiaux S, Chaffiotte C, Baux M, Kerckaert JP, Holder-Espinasse M, Manouvrier-Hanu S. Houeijeh A, et al. Among authors: kerckaert jp. Eur J Med Genet. 2011 Sep-Oct;54(5):e471-7. doi: 10.1016/j.ejmg.2011.05.001. Epub 2011 May 13. Eur J Med Genet. 2011. PMID: 21635976
Repression of the RHOH gene by JunD.
Delestré L, Berthon C, Quesnel B, Figeac M, Kerckaert JP, Galiègue-Zouitina S, Shelley CS. Delestré L, et al. Among authors: kerckaert jp. Biochem J. 2011 Jul 1;437(1):75-88. doi: 10.1042/BJ20100829. Biochem J. 2011. PMID: 21473742
SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes.
Mutez E, Leprêtre F, Le Rhun E, Larvor L, Duflot A, Mouroux V, Kerckaert JP, Figeac M, Dujardin K, Destée A, Chartier-Harlin MC. Mutez E, et al. Among authors: kerckaert jp. Hum Mutat. 2011 Apr;32(4):E2079-90. doi: 10.1002/humu.21459. Epub 2011 Feb 8. Hum Mutat. 2011. PMID: 21412942
1q12 chromosome translocations form aberrant heterochromatic foci associated with changes in nuclear architecture and gene expression in B cell lymphoma.
Fournier A, McLeer-Florin A, Lefebvre C, Duley S, Barki L, Ribeyron J, Alboukadel K, Hamaidia S, Granjon A, Gressin R, Lajmanovich A, Bonnefoix T, Chauvelier S, Debernardi A, Rousseaux S, de Fraipont F, Figeac M, Kerckaert JP, De Vos J, Usson Y, Delaval K, Grichine A, Vourc'h C, Khochbin S, Feil R, Leroux D, Callanan MB. Fournier A, et al. Among authors: kerckaert jp. EMBO Mol Med. 2010 May;2(5):159-71. doi: 10.1002/emmm.201000067. EMBO Mol Med. 2010. PMID: 20432501 Free PMC article.
Transcriptional profile of Parkinson blood mononuclear cells with LRRK2 mutation.
Mutez E, Larvor L, Leprêtre F, Mouroux V, Hamalek D, Kerckaert JP, Pérez-Tur J, Waucquier N, Vanbesien-Mailliot C, Duflot A, Devos D, Defebvre L, Kreisler A, Frigard B, Destée A, Chartier-Harlin MC. Mutez E, et al. Among authors: kerckaert jp. Neurobiol Aging. 2011 Oct;32(10):1839-48. doi: 10.1016/j.neurobiolaging.2009.10.016. Epub 2010 Jan 22. Neurobiol Aging. 2011. PMID: 20096956
Waved aCGH: to smooth or not to smooth.
Leprêtre F, Villenet C, Quief S, Nibourel O, Jacquemin C, Troussard X, Jardin F, Gibson F, Kerckaert JP, Roumier C, Figeac M. Leprêtre F, et al. Among authors: kerckaert jp. Nucleic Acids Res. 2010 Apr;38(7):e94. doi: 10.1093/nar/gkp1215. Epub 2010 Jan 13. Nucleic Acids Res. 2010. PMID: 20071741 Free PMC article.
99 results