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Page 1
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Rivière JB. Thevenon J, et al. Among authors: darmency stamboul v. Am J Hum Genet. 2014 Jul 3;95(1):113-20. doi: 10.1016/j.ajhg.2014.06.006. Am J Hum Genet. 2014. PMID: 24995870 Free PMC article.
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
Masurel-Paulet A, Kalscheuer VM, Lebrun N, Hu H, Levy F, Thauvin-Robinet C, Darmency-Stamboul V, El Chehadeh S, Thevenon J, Chancenotte S, Ruffier-Bourdet M, Bonnet M, Pinoit JM, Huet F, Desportes V, Chelly J, Faivre L. Masurel-Paulet A, et al. Among authors: darmency stamboul v. Am J Med Genet A. 2014 Mar;164A(3):789-95. doi: 10.1002/ajmg.a.36348. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357419
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
Thevenon J, Duffourd Y, Masurel-Paulet A, Lefebvre M, Feillet F, El Chehadeh-Djebbar S, St-Onge J, Steinmetz A, Huet F, Chouchane M, Darmency-Stamboul V, Callier P, Thauvin-Robinet C, Faivre L, Rivière JB. Thevenon J, et al. Among authors: darmency stamboul v. Clin Genet. 2016 Jun;89(6):700-7. doi: 10.1111/cge.12732. Epub 2016 Apr 26. Clin Genet. 2016. PMID: 26757139
C5orf42 is the major gene responsible for OFD syndrome type VI.
Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T. Lopez E, et al. Among authors: darmency stamboul v. Hum Genet. 2014 Mar;133(3):367-77. doi: 10.1007/s00439-013-1385-1. Epub 2013 Nov 1. Hum Genet. 2014. PMID: 24178751
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.
Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attié-Bitach T, Thauvin-Robinet C. Darmency-Stamboul V, et al. Eur J Med Genet. 2013 Jun;56(6):301-8. doi: 10.1016/j.ejmg.2013.03.004. Epub 2013 Mar 21. Eur J Med Genet. 2013. PMID: 23523602
Angelman syndrome: a case series assessing neurological issues in adulthood.
Giroud M, Daubail B, Khayat N, Chouchane M, Berger E, Muzard E, Medeiros de Bustos E, Thauvin-Robinet C, Faivre L, Masurel A, Darmency-Stamboul V, Huet F, Béjot Y, Giroud M, Moulin T. Giroud M, et al. Among authors: darmency stamboul v. Eur Neurol. 2015;73(1-2):119-25. doi: 10.1159/000369454. Epub 2014 Nov 29. Eur Neurol. 2015. PMID: 25472600
[Stroke in children: a medical emergency].
Hervieu-Bégue M, Jacquin A, Kazemi A, Nezzal N, Darmency-Stamboul V, Souchane M, Huet F, Giroud M, Osseby GV, Béjot Y. Hervieu-Bégue M, et al. Among authors: darmency stamboul v. Presse Med. 2012 May;41(5):518-24. doi: 10.1016/j.lpm.2011.06.027. Epub 2012 Feb 10. Presse Med. 2012. PMID: 22326664 Review. French.
Antenatal factors associated with perinatal arterial ischemic stroke.
Darmency-Stamboul V, Chantegret C, Ferdynus C, Mejean N, Durand C, Sagot P, Giroud M, Bejot Y, Gouyon JB. Darmency-Stamboul V, et al. Stroke. 2012 Sep;43(9):2307-12. doi: 10.1161/STROKEAHA.111.642181. Epub 2012 Jun 26. Stroke. 2012. PMID: 22738921
[Neonatal arterial ischemic stroke: Review of the current guidelines].
Saliba E, Debillon T; Recommandations accident vasculaire cérébral (AVC) néonatal; Auvin S, Baud O, Biran V, Chabernaud JL, Chabrier S, Cneude F, Cordier AG, Darmency-Stamboul V, Diependaele JF, Debillon T, Dinomais M, Durand C, Ego A, Favrais G, Gruel Y, Hertz-Pannier L, Husson B, Marret S, N'Guyen The Tich S, Perez T, Saliba E, Valentin JB, Vuillerot C. Saliba E, et al. Among authors: darmency stamboul v. Arch Pediatr. 2017 Feb;24(2):180-188. doi: 10.1016/j.arcped.2016.11.005. Epub 2016 Dec 20. Arch Pediatr. 2017. PMID: 28011082 Free article. French.