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Page 1
Costello syndrome and neurological abnormalities.
Delrue MA, Chateil JF, Arveiler B, Lacombe D. Delrue MA, et al. Am J Med Genet A. 2003 Dec 15;123A(3):301-5. doi: 10.1002/ajmg.a.20330. Am J Med Genet A. 2003. PMID: 14608654 Review.
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.
Vu PY, Toutain J, Cappellen D, Delrue MA, Daoud H, El Moneim AA, Barat P, Montaubin O, Bonnet F, Dai ZQ, Philippe C, Tran CT, Rooryck C, Arveiler B, Saura R, Briault S, Lacombe D, Taine L. Vu PY, et al. Among authors: delrue ma. Am J Med Genet A. 2012 Nov;158A(11):2849-56. doi: 10.1002/ajmg.a.35694. Epub 2012 Oct 3. Am J Med Genet A. 2012. PMID: 23034868
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Thierry G, Bénéteau C, Pichon O, Flori E, Isidor B, Popelard F, Delrue MA, Duboscq-Bidot L, Thuresson AC, van Bon BW, Cailley D, Rooryck C, Paubel A, Metay C, Dusser A, Pasquier L, Béri M, Bonnet C, Jaillard S, Dubourg C, Tou B, Quéré MP, Soussi-Zander C, Toutain A, Lacombe D, Arveiler B, de Vries BB, Jonveaux P, David A, Le Caignec C. Thierry G, et al. Among authors: delrue ma. Am J Med Genet A. 2012 Jul;158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678713 Free article.
79 results