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Page 1
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
Holder-Espinasse M, Marie S, Bourrouillou G, Ceballos-Picot I, Nassogne MC, Faivre L, Amiel J, Munnich A, Vincent MF, Cormier-Daire V. Holder-Espinasse M, et al. J Med Genet. 2002 Jun;39(6):440-2. doi: 10.1136/jmg.39.6.440. J Med Genet. 2002. PMID: 12070256 Free PMC article. No abstract available.
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N. Gitiaux C, et al. Eur J Hum Genet. 2009 Jan;17(1):133-6. doi: 10.1038/ejhg.2008.174. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830228 Free PMC article.
Adenine phosphoribosyltransferase deficiency in children.
Harambat J, Bollée G, Daudon M, Ceballos-Picot I, Bensman A; APRT Study Group. Harambat J, et al. Pediatr Nephrol. 2012 Apr;27(4):571-9. doi: 10.1007/s00467-011-2037-0. Epub 2012 Jan 3. Pediatr Nephrol. 2012. PMID: 22212387
Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders.
Flamand-Rouvière C, Guettard E, Moreau C, Bahi-Buisson N, Valayannopoulos V, Grabli D, Motte J, Rodriguez D, Roubertie A, Maintigneux L, Kemlin I, Ceballos-Picot I, Adams D, Vidailhet M, Roze E. Flamand-Rouvière C, et al. Mov Disord. 2010 Aug 15;25(11):1605-11. doi: 10.1002/mds.23134. Mov Disord. 2010. PMID: 20629163
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S. Mercati O, et al. Among authors: ceballos picot i. Eur J Med Genet. 2020 Nov;63(11):104033. doi: 10.1016/j.ejmg.2020.104033. Epub 2020 Aug 8. Eur J Med Genet. 2020. PMID: 32781272 Review.
78 results