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Page 1
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
Dharmadhikari AV, Gambin T, Szafranski P, Cao W, Probst FJ, Jin W, Fang P, Gogolewski K, Gambin A, George-Abraham JK, Golla S, Boidein F, Duban-Bedu B, Delobel B, Andrieux J, Becker K, Holinski-Feder E, Cheung SW, Stankiewicz P. Dharmadhikari AV, et al. Among authors: andrieux j. BMC Med Genet. 2014 Dec 4;15:128. doi: 10.1186/s12881-014-0128-z. BMC Med Genet. 2014. PMID: 25472632 Free PMC article.
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. 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.
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).
Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR. Maas NM, et al. Among authors: andrieux j. J Med Genet. 2008 Feb;45(2):71-80. doi: 10.1136/jmg.2007.052910. Epub 2007 Sep 14. J Med Genet. 2008. PMID: 17873117
Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.
Andrieux J, Lepretre F, Cuisset JM, Goldenberg A, Delobel B, Manouvrier-Hanu S, Holder-Espinasse M. Andrieux J, et al. Eur J Med Genet. 2008 Mar-Apr;51(2):172-7. doi: 10.1016/j.ejmg.2007.12.002. Epub 2008 Jan 14. Eur J Med Genet. 2008. PMID: 18222743
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: andrieux j. 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.
Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.
Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, Mathieu M, Journel H, Copin H, Blondeel E, Doco-Fenzy M, Landais E, Delobel B, Odent S, Manouvrier-Hanu S, Holder-Espinasse M. Andrieux J, et al. Am J Med Genet A. 2009 Dec;149A(12):2813-9. doi: 10.1002/ajmg.a.33097. Am J Med Genet A. 2009. PMID: 19921647 Free PMC article.
224 results