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Page 1
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Allou L, Balzano S, Magg A, Quinodoz M, Royer-Bertrand B, Schöpflin R, Chan WL, Speck-Martins CE, Carvalho DR, Farage L, Lourenço CM, Albuquerque R, Rajagopal S, Nampoothiri S, Campos-Xavier B, Chiesa C, Niel-Bütschi F, Wittler L, Timmermann B, Spielmann M, Robson MI, Ringel A, Heinrich V, Cova G, Andrey G, Prada-Medina CA, Pescini-Gobert R, Unger S, Bonafé L, Grote P, Rivolta C, Mundlos S, Superti-Furga A. Allou L, et al. Nature. 2021 Apr;592(7852):93-98. doi: 10.1038/s41586-021-03208-9. Epub 2021 Feb 10. Nature. 2021. PMID: 33568816
Noncoding copy-number variations are associated with congenital limb malformation.
Flöttmann R, Kragesteen BK, Geuer S, Socha M, Allou L, Sowińska-Seidler A, Bosquillon de Jarcy L, Wagner J, Jamsheer A, Oehl-Jaschkowitz B, Wittler L, de Silva D, Kurth I, Maya I, Santos-Simarro F, Hülsemann W, Klopocki E, Mountford R, Fryer A, Borck G, Horn D, Lapunzina P, Wilson M, Mascrez B, Duboule D, Mundlos S, Spielmann M. Flöttmann R, et al. Among authors: allou l. Genet Med. 2018 Jun;20(6):599-607. doi: 10.1038/gim.2017.154. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29236091 Free article.
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C. Mignot C, et al. Among authors: allou l. J Med Genet. 2015 Jan;52(1):61-70. doi: 10.1136/jmedgenet-2014-102748. Epub 2014 Nov 19. J Med Genet. 2015. PMID: 25411445
MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.
Lambert L, Bienvenu T, Allou L, Valduga M, Echenne B, Diebold B, Mignot C, Héron D, Roth V, Saunier A, Moustaïne A, Jonveaux P, Philippe C. Lambert L, et al. Among authors: allou l. Clin Genet. 2012 Nov;82(5):499-501. doi: 10.1111/j.1399-0004.2012.01861.x. Epub 2012 Mar 26. Clin Genet. 2012. PMID: 22449245 No abstract available.
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