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Page 1
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Passemard S, et al. Among authors: de villemeur tb. Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. Neurology. 2009. PMID: 19770472
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.
Passemard S, Gelot A, Fogli A, N'Guyen S, Barnerias C, Niel F, Doummar D, Arbues AS, Mignot C, de Villemeur TB, Ponsot G, Boespflug-Tanguy O, Rodriguez D. Passemard S, et al. Among authors: de villemeur tb. Neurology. 2007 Jul 24;69(4):400-2. doi: 10.1212/01.wnl.0000266388.02772.f8. Neurology. 2007. PMID: 17646634 No abstract available.
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Afenjar A, Moutard ML, Doummar D, Guët A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, Thioulouse E, de Villemeur TB, Campion D, Rodriguez D. Afenjar A, et al. Among authors: de villemeur tb. Brain Dev. 2007 Oct;29(9):547-52. doi: 10.1016/j.braindev.2007.01.008. Epub 2007 Apr 6. Brain Dev. 2007. PMID: 17412540
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D. Burglen L, et al. Among authors: de villemeur tb. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. Orphanet J Rare Dis. 2012. PMID: 22452838 Free PMC article.
Microcephaly: a radiological review.
Tarrant A, Garel C, Germanaud D, de Villemeur TB, Mignot C, Lenoir M, le Pointe HD. Tarrant A, et al. Among authors: de villemeur tb. Pediatr Radiol. 2009 Aug;39(8):772-80; quiz 888-9. doi: 10.1007/s00247-009-1266-x. Epub 2009 May 13. Pediatr Radiol. 2009. PMID: 19437006 Review.
Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports.
Galliani E, Burglen L, Kadlub N, Just W, Sznajer Y, de Villemeur TB, Soupre V, Picard A, Vazquez MP. Galliani E, et al. Among authors: de villemeur tb. Cleft Palate Craniofac J. 2012 May;49(3):357-64. doi: 10.1597/10-203. Epub 2011 May 3. Cleft Palate Craniofac J. 2012. PMID: 21539471
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. Among authors: de villemeur tb. 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
First cryptic balanced reciprocal translocation mosaicism and familial transmission.
Dupont C, Delahaye A, Burglen L, Tabet AC, Aboura A, Kanafani S, Baverel F, de Villemeur TB, Benzacken B, Pipiras E. Dupont C, et al. Among authors: de villemeur tb. Am J Med Genet A. 2008 Nov 15;146A(22):2971-4. doi: 10.1002/ajmg.a.32547. Am J Med Genet A. 2008. PMID: 18925677 No abstract available.
53 results