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Page 1
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
Germanaud D, Rossi M, Bussy G, Gérard D, Hertz-Pannier L, Blanchet P, Dollfus H, Giuliano F, Bennouna-Greene V, Sarda P, Sigaudy S, Curie A, Vincent MC, Touraine R, des Portes V. Germanaud D, et al. Among authors: des portes v. Clin Genet. 2011 Mar;79(3):225-35. doi: 10.1111/j.1399-0004.2010.01551.x. Epub 2010 Oct 18. Clin Genet. 2011. PMID: 20950397
[MRI morphometry, an insight into brain function].
Curie A, Guibaud L, Des Portes V. Curie A, et al. Among authors: des portes v. Arch Pediatr. 2006 Jun;13(6):674-7. doi: 10.1016/j.arcped.2006.03.099. Epub 2006 May 12. Arch Pediatr. 2006. PMID: 16697610 French. No abstract available.
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
Lion-François L, Cheillan D, Pitelet G, Acquaviva-Bourdain C, Bussy G, Cotton F, Guibaud L, Gérard D, Rivier C, Vianey-Saban C, Jakobs C, Salomons GS, des Portes V. Lion-François L, et al. Among authors: des portes v. Neurology. 2006 Nov 14;67(9):1713-4. doi: 10.1212/01.wnl.0000239153.39710.81. Neurology. 2006. PMID: 17101918 No abstract available.
Implicit procedural learning in fragile X and Down syndrome.
Bussy G, Charrin E, Brun A, Curie A, des Portes V. Bussy G, et al. Among authors: des portes v. J Intellect Disabil Res. 2011 May;55(5):521-8. doi: 10.1111/j.1365-2788.2011.01410.x. Epub 2011 Mar 15. J Intellect Disabil Res. 2011. PMID: 21418366
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: des portes v. 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.
168 results