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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, Grégoire MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M. Leroy C, et al. Among authors: leheup b. Eur J Hum Genet. 2013 Jun;21(6):602-12. doi: 10.1038/ejhg.2012.230. Epub 2012 Oct 17. Eur J Hum Genet. 2013. PMID: 23073310 Free PMC article.
Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.
Béri-Deixheimer M, Gregoire MJ, Toutain A, Brochet K, Briault S, Schaff JL, Leheup B, Jonveaux P. Béri-Deixheimer M, et al. Among authors: leheup b. Eur J Hum Genet. 2007 Apr;15(4):446-52. doi: 10.1038/sj.ejhg.5201784. Epub 2007 Feb 7. Eur J Hum Genet. 2007. PMID: 17290276
Terminal deletion of the long arm of chromosome 10.
Scigliano S, Grégoire MJ, Schmitt M, Jonveaux PH, LeHeup B. Scigliano S, et al. Among authors: leheup b. Clin Genet. 2004 Apr;65(4):294-8. doi: 10.1111/j.1399-0004.2004.00218.x. Clin Genet. 2004. PMID: 15025722 Review.
Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability.
Beneteau C, Landais E, Doco-Fenzy M, Gavazzi C, Philippe C, Béri-Dexheimer M, Bonnet C, Vigneron J, Walrafen P, Motte J, Leheup B, Jonveaux P. Beneteau C, et al. Among authors: leheup b. J Med Genet. 2011 Sep;48(9):635-9. doi: 10.1136/jmedgenet-2011-100008. Epub 2011 May 26. J Med Genet. 2011. PMID: 21617255
222 results