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Page 1
Clinical utility gene card for: 16p12.2 microdeletion.
Pizzo L, Andrieux J, Amor DJ, Girirajan S. Pizzo L, et al. Among authors: andrieux j. Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.158. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848943 Free PMC article. No abstract available.
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
Dubourg C, Sanlaville D, Doco-Fenzy M, Le Caignec C, Missirian C, Jaillard S, Schluth-Bolard C, Landais E, Boute O, Philip N, Toutain A, David A, Edery P, Moncla A, Martin-Coignard D, Vincent-Delorme C, Mortemousque I, Duban-Bedu B, Drunat S, Beri M, Mosser J, Odent S, David V, Andrieux J. Dubourg C, et al. Among authors: andrieux j. Eur J Med Genet. 2011 Mar-Apr;54(2):144-51. doi: 10.1016/j.ejmg.2010.11.003. Epub 2010 Nov 20. Eur J Med Genet. 2011. PMID: 21094706 Free article.
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.
Ghoumid J, Andrieux J, Sablonnière B, Odent S, Philippe N, Zanlonghi X, Saugier-Veber P, Bardyn T, Manouvrier-Hanu S, Holder-Espinasse M. Ghoumid J, et al. Among authors: andrieux j. Eur J Hum Genet. 2011 Nov;19(11):1198-201. doi: 10.1038/ejhg.2011.95. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654727 Free PMC article.
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
Thevenon J, Callier P, Andrieux J, Delobel B, David A, Sukno S, Minot D, Mosca Anne L, Marle N, Sanlaville D, Bonnet M, Masurel-Paulet A, Levy F, Gaunt L, Farrell S, Le Caignec C, Toutain A, Carmignac V, Mugneret F, Clayton-Smith J, Thauvin-Robinet C, Faivre L. Thevenon J, et al. Among authors: andrieux j. Eur J Hum Genet. 2013 Jan;21(1):82-8. doi: 10.1038/ejhg.2012.116. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713806 Free PMC article.
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.
Boudry-Labis E, Demeer B, Le Caignec C, Isidor B, Mathieu-Dramard M, Plessis G, George AM, Taylor J, Aftimos S, Wiemer-Kruel A, Kohlhase J, Annerén G, Firth H, Simonic I, Vermeesch J, Thuresson AC, Copin H, Love DR, Andrieux J. Boudry-Labis E, et al. Among authors: andrieux j. Eur J Med Genet. 2013 Mar;56(3):163-70. doi: 10.1016/j.ejmg.2012.12.006. Epub 2012 Dec 29. Eur J Med Genet. 2013. PMID: 23279911
Clinical comparison of overlapping deletions of 19p13.3.
Risheg H, Pasion R, Sacharow S, Proud V, Immken L, Schwartz S, Tepperberg JH, Papenhausen P, Tan TY, Andrieux J, Plessis G, Amor DJ, Keitges EA. Risheg H, et al. Among authors: andrieux j. Am J Med Genet A. 2013 May;161A(5):1110-6. doi: 10.1002/ajmg.a.35923. Am J Med Genet A. 2013. PMID: 23610052
Clinical utility gene card for: 16p13.11 microdeletion syndrome.
Tropeano M, Andrieux J, Collier DA. Tropeano M, et al. Among authors: andrieux j. Eur J Hum Genet. 2014 May;22(5). doi: 10.1038/ejhg.2013.230. Epub 2013 Oct 9. Eur J Hum Genet. 2014. PMID: 24105370 Free PMC article. No abstract available.
Clinical utility gene card for: 15q13.3 microdeletion syndrome.
Tropeano M, Andrieux J, Vassos E, Collier DA. Tropeano M, et al. Among authors: andrieux j. Eur J Hum Genet. 2014 Nov;22(11):1338. doi: 10.1038/ejhg.2014.88. Epub 2014 May 14. Eur J Hum Genet. 2014. PMID: 24824131 Free PMC article. No abstract available.
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: andrieux 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
225 results