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Page 1
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Among authors: sanlaville d. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.
Schluth-Bolard C, Till M, Rafat A, Labalme A, Le Lorc'h M, Banquart E, Angei C, Cordier MP, Romana SP, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: sanlaville d. Eur J Med Genet. 2008 Nov-Dec;51(6):622-30. doi: 10.1016/j.ejmg.2008.06.009. Epub 2008 Jul 12. Eur J Med Genet. 2008. PMID: 18674648
Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype.
Schluth-Bolard C, Sanlaville D, Labalme A, Till M, Michel-Calemard L, Rafat A, Zabot MT, Nicolino M, Guibaud L, Edery P. Schluth-Bolard C, et al. Among authors: sanlaville d. Am J Med Genet A. 2009 Nov;149A(11):2584-7. doi: 10.1002/ajmg.a.32772. Am J Med Genet A. 2009. PMID: 19504602 No abstract available.
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.
Lesca G, Rudolf G, Labalme A, Hirsch E, Arzimanoglou A, Genton P, Motte J, de Saint Martin A, Valenti MP, Boulay C, De Bellescize J, Kéo-Kosal P, Boutry-Kryza N, Edery P, Sanlaville D, Szepetowski P. Lesca G, et al. Among authors: sanlaville d. Epilepsia. 2012 Sep;53(9):1526-38. doi: 10.1111/j.1528-1167.2012.03559.x. Epub 2012 Jun 27. Epilepsia. 2012. PMID: 22738016 Free article.
Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report.
Rossi M, Labalme A, Cordier MP, Till M, Blanchard G, Dubois R, Guibaud L, Heissat S, Javouhey E, Lachaux A, Mure PY, Ville D, Edery P, Sanlaville D. Rossi M, et al. Among authors: sanlaville d. Am J Med Genet A. 2012 Dec;158A(12):3174-81. doi: 10.1002/ajmg.a.35588. Epub 2012 Nov 19. Am J Med Genet A. 2012. PMID: 23165966
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.
Schluth-Bolard C, Labalme A, Cordier MP, Till M, Nadeau G, Tevissen H, Lesca G, Boutry-Kryza N, Rossignol S, Rocas D, Dubruc E, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: sanlaville d. J Med Genet. 2013 Mar;50(3):144-50. doi: 10.1136/jmedgenet-2012-101351. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315544
295 results