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Characterization of sSMC by FISH and molecular techniques.
Sheth F, Andrieux J, Ewers E, Kosyakova N, Weise A, Sheth H, Romana SP, LeLorc'h M, Delobel B, Theisen O, Liehr T, Nampoothiri S, Sheth J. Sheth F, et al. Eur J Med Genet. 2011 May-Jun;54(3):247-55. doi: 10.1016/j.ejmg.2011.01.011. Epub 2011 Mar 3. Eur J Med Genet. 2011. PMID: 21316495
Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes.
Mégarbané A, Le Lorc'H M, Elghezal H, Joly G, Gosset P, Souraty N, Samaras L, Prieur M, Vekemans M, Turleau C, Romana SP. Mégarbané A, et al. J Med Genet. 2001 Mar;38(3):178-82. doi: 10.1136/jmg.38.3.178. J Med Genet. 2001. PMID: 11303510 Free PMC article. No abstract available.
A CGH study of 27 patients with CHARGE association.
Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M. Sanlaville D, et al. Clin Genet. 2002 Feb;61(2):135-8. doi: 10.1034/j.1399-0004.2002.610208.x. Clin Genet. 2002. PMID: 11940088
Classical West "syndrome" phenotype with a subtelomeric 4p trisomy.
Gérard-Blanluet M, Romana S, Munier C, Le Lorc'h M, Kanafani S, Sinico M, Touboul C, Levaillant JM, Haddad B, Lopez N, Lelong F, De Villemeur TB, Verloes A, Borghi E. Gérard-Blanluet M, et al. Am J Med Genet A. 2004 Oct 15;130A(3):299-302. doi: 10.1002/ajmg.a.30314. Am J Med Genet A. 2004. PMID: 15378535
38 results