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168 results

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Page 1
[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.
Extracerebellar ectopic brain tissue in the posterior fossa.
Guibaud L, Devonec S, Des Portes V, Roth P, Gaucherand P, Pracros JP. Guibaud L, et al. Among authors: des portes v. Ultrasound Obstet Gynecol. 2005 Nov;26(6):687-9. doi: 10.1002/uog.2611. Ultrasound Obstet Gynecol. 2005. PMID: 16254877 Free article. 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.
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.
Saillour Y, Zanni G, Des Portes V, Heron D, Guibaud L, Iba-Zizen MT, Pedespan JL, Poirier K, Castelnau L, Julien C, Franconnet C, Bonthron D, Porteous ME, Chelly J, Bienvenu T. Saillour Y, et al. Among authors: des portes v. J Med Genet. 2007 Nov;44(11):739-44. doi: 10.1136/jmg.2007.051334. Epub 2007 Jul 6. J Med Genet. 2007. PMID: 17617514 Free PMC article.
[Acute hemiparesis revealing a neuroborreliosis in a child].
Rénard C, Marignier S, Gillet Y, Roure-Sobas C, Guibaud L, Des Portes V, Lion-François L. Rénard C, et al. Among authors: des portes v. Arch Pediatr. 2008 Jan;15(1):41-4. doi: 10.1016/j.arcped.2007.10.008. Epub 2007 Dec 26. Arch Pediatr. 2008. PMID: 18155890 French.
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
168 results