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583 results

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Page 1
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.
Solé G, Coupry I, Rooryck C, Guérineau E, Martins F, Devés S, Hubert C, Souakri N, Boute O, Marchal C, Faivre L, Landré E, Debruxelles S, Dieux-Coeslier A, Boulay C, Chassagnon S, Michel V, Routon MC, Toutain A, Philip N, Lacombe D, Villard L, Arveiler B, Goizet C. Solé G, et al. Among authors: philip n. J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1394-8. doi: 10.1136/jnnp.2008.162263. J Neurol Neurosurg Psychiatry. 2009. PMID: 19917821
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
Villard L, Bonino MC, Abidi F, Ragusa A, Belougne J, Lossi AM, Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C, Fontés M. Villard L, et al. Among authors: philip n. J Med Genet. 1999 Mar;36(3):183-6. J Med Genet. 1999. PMID: 10204841 Free PMC article.
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Le Merrer M, Tanaka H, Till M, Touraine R, Toutain A, Vekemans M, Munnich A, Lyonnet S. Amiel J, et al. Among authors: philip n. Am J Hum Genet. 2001 Dec;69(6):1370-7. doi: 10.1086/324342. Epub 2001 Oct 10. Am J Hum Genet. 2001. PMID: 11595972 Free PMC article.
Behavioral and temperamental features of children with Costello syndrome.
Galéra C, Delrue MA, Goizet C, Etchegoyhen K, Taupiac E, Sigaudy S, Arveiler B, Philip N, Bouvard M, Lacombe D. Galéra C, et al. Among authors: philip n. Am J Med Genet A. 2006 May 1;140(9):968-74. doi: 10.1002/ajmg.a.31169. Am J Med Genet A. 2006. PMID: 16575889
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J. Bahi-Buisson N, et al. Among authors: philip n. J Med Genet. 2008 Oct;45(10):647-53. doi: 10.1136/jmg.2008.058073. Epub 2008 Aug 26. J Med Genet. 2008. PMID: 18728072
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N. Saillour Y, et al. Among authors: philip n. Arch Neurol. 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. Arch Neurol. 2009. PMID: 19667223
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
El Chehadeh S, Aral B, Gigot N, Thauvin-Robinet C, Donzel A, Delrue MA, Lacombe D, David A, Burglen L, Philip N, Moncla A, Cormier-Daire V, Rio M, Edery P, Verloes A, Bonneau D, Afenjar A, Jacquette A, Heron D, Sarda P, Pinson L, Doray B, Vigneron J, Leheup B, Frances-Guidet AM, Dienne G, Holder M, Masurel-Paulet A, Huet F, Teyssier JR, Faivre L. El Chehadeh S, et al. Among authors: philip n. J Med Genet. 2010 Aug;47(8):549-53. doi: 10.1136/jmg.2009.075028. J Med Genet. 2010. PMID: 20656880 Free article.
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
Dubourg C, Sanlaville D, Doco-Fenzy M, Le Caignec C, Missirian C, Jaillard S, Schluth-Bolard C, Landais E, Boute O, Philip N, Toutain A, David A, Edery P, Moncla A, Martin-Coignard D, Vincent-Delorme C, Mortemousque I, Duban-Bedu B, Drunat S, Beri M, Mosser J, Odent S, David V, Andrieux J. Dubourg C, et al. Among authors: philip n. Eur J Med Genet. 2011 Mar-Apr;54(2):144-51. doi: 10.1016/j.ejmg.2010.11.003. Epub 2010 Nov 20. Eur J Med Genet. 2011. PMID: 21094706 Free article.
583 results