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Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
Delphin N, Hanein S, Taie LF, Zanlonghi X, Bonneau D, Moisan JP, Boyle C, Nitschke P, Pruvost S, Bonnefont JP, Munnich A, Roche O, Kaplan J, Rozet JM. Delphin N, et al. Among authors: bonneau d. Eur J Hum Genet. 2012 Mar;20(3):352-6. doi: 10.1038/ejhg.2011.217. Epub 2011 Nov 30. Eur J Hum Genet. 2012. PMID: 22126752 Free PMC article.
Phenotype-genotype correlations in X linked retinitis pigmentosa.
Kaplan J, Pelet A, Martin C, Delrieu O, Aymé S, Bonneau D, Briard ML, Hanauer A, Larget-Piet L, Lefrançois P, et al. Kaplan J, et al. Among authors: bonneau d. J Med Genet. 1992 Sep;29(9):615-23. doi: 10.1136/jmg.29.9.615. J Med Genet. 1992. PMID: 1357178 Free PMC article.
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.
Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, Dollfus H, Ghazi I, Dufier JL, Frézal J, et al. Kaplan J, et al. Among authors: bonneau d. Genomics. 1992 Dec;14(4):979-87. doi: 10.1016/s0888-7543(05)80120-x. Genomics. 1992. PMID: 1478676
A gene for Leber's congenital amaurosis maps to chromosome 17p.
Camuzat A, Dollfus H, Rozet JM, Gerber S, Bonneau D, Bonnemaison M, Briard ML, Dufier JL, Ghazi I, Leowski C, et al. Camuzat A, et al. Among authors: bonneau d. Hum Mol Genet. 1995 Aug;4(8):1447-52. doi: 10.1093/hmg/4.8.1447. Hum Mol Genet. 1995. PMID: 7581387
437 results