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Page 1
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.
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
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
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
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.
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
Type 2 Gaucher disease: 15 new cases and review of the literature.
Mignot C, Doummar D, Maire I, De Villemeur TB; French Type 2 Gaucher Disease Study Group. Mignot C, et al. Among authors: de villemeur tb. Brain Dev. 2006 Jan;28(1):39-48. doi: 10.1016/j.braindev.2005.04.005. Brain Dev. 2006. PMID: 16485335 Review.
[Management of acute visual loss in children].
Doummar D, Roussat B, Pelosse B, Le Pointe HD, Iba-Zizen M, Roubergue A, Rodriguez D, de Villemeur TB. Doummar D, et al. Among authors: de villemeur tb. Arch Pediatr. 2004 Nov;11(11):1384-8. doi: 10.1016/j.arcped.2004.04.005. Arch Pediatr. 2004. PMID: 15519841 Review. French.
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.
Roubergue A, Apartis E, Mesnage V, Doummar D, Trocello JM, Roze E, Taieb G, De Villemeur TB, Vuillaumier-Barrot S, Vidailhet M, Levy R. Roubergue A, et al. Among authors: de villemeur tb. J Inherit Metab Dis. 2011 Apr;34(2):483-8. doi: 10.1007/s10545-010-9264-6. Epub 2011 Jan 13. J Inherit Metab Dis. 2011. PMID: 21229316
53 results