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Page 1
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Žnidarič M, Alibeu O, Fritz AK, Wolfer DP, Schröter A, Bosshard G, Rudin M, Koester C, Crestani F, Seebeck P, Boddaert N, Prescott K; DDD Study; Hines R, Moss SJ, Fritschy JM, Munnich A, Amiel J, Brown SA, Tyagarajan SK, Colleaux L. Mircsof D, et al. Among authors: alibeu o. Nat Neurosci. 2015 Dec;18(12):1731-6. doi: 10.1038/nn.4169. Epub 2015 Nov 16. Nat Neurosci. 2015. PMID: 26571461 Free PMC article.
Somatic genetic rescue of a germline ribosome assembly defect.
Tan S, Kermasson L, Hilcenko C, Kargas V, Traynor D, Boukerrou AZ, Escudero-Urquijo N, Faille A, Bertrand A, Rossmann M, Goyenechea B, Jin L, Moreil J, Alibeu O, Beaupain B, Bôle-Feysot C, Fumagalli S, Kaltenbach S, Martignoles JA, Masson C, Nitschké P, Parisot M, Pouliet A, Radford-Weiss I, Tores F, de Villartay JP, Zarhrate M, Koh AL, Phua KB, Reversade B, Bond PJ, Bellanné-Chantelot C, Callebaut I, Delhommeau F, Donadieu J, Warren AJ, Revy P. Tan S, et al. Among authors: alibeu o. Nat Commun. 2021 Aug 19;12(1):5044. doi: 10.1038/s41467-021-24999-5. Nat Commun. 2021. PMID: 34413298 Free PMC article.
Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect.
Tan S, Kermasson L, Hilcenko C, Kargas V, Traynor D, Boukerrou AZ, Escudero-Urquijo N, Faille A, Bertrand A, Rossmann M, Goyenechea B, Jin L, Moreil J, Alibeu O, Beaupain B, Bôle-Feysot C, Fumagalli S, Kaltenbach S, Martignoles JA, Masson C, Nitschké P, Parisot M, Pouliet A, Radford-Weiss I, Tores F, de Villartay JP, Zarhrate M, Koh AL, Phua KB, Reversade B, Bond PJ, Bellanné-Chantelot C, Callebaut I, Delhommeau F, Donadieu J, Warren AJ, Revy P. Tan S, et al. Among authors: alibeu o. Nat Commun. 2022 Jun 22;13(1):3574. doi: 10.1038/s41467-022-31316-1. Nat Commun. 2022. PMID: 35732670 Free PMC article. No abstract available.
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Heidet L, Morinière V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschké P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C. Heidet L, et al. Among authors: alibeu o. J Am Soc Nephrol. 2017 Oct;28(10):2901-2914. doi: 10.1681/ASN.2017010043. Epub 2017 May 31. J Am Soc Nephrol. 2017. PMID: 28566479 Free PMC article.
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.
Alessandri JL, Gordon CT, Jacquemont ML, Gruchy N, Ajeawung NF, Benoist G, Oufadem M, Chebil A, Duffourd Y, Dumont C, Gérard M, Kuentz P, Jouan T, Filippini F, Nguyen TTM, Alibeu O, Bole-Feysot C, Nitschké P, Omarjee A, Ramful D, Randrianaivo H, Doray B, Faivre L, Amiel J, Campeau PM, Thevenon J. Alessandri JL, et al. Among authors: alibeu o. Eur J Hum Genet. 2018 Mar;26(3):340-349. doi: 10.1038/s41431-017-0087-x. Epub 2018 Jan 12. Eur J Hum Genet. 2018. PMID: 29330547 Free PMC article.
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Failler M, Gee HY, Krug P, Joo K, Halbritter J, Belkacem L, Filhol E, Porath JD, Braun DA, Schueler M, Frigo A, Alibeu O, Masson C, Brochard K, Hurault de Ligny B, Novo R, Pietrement C, Kayserili H, Salomon R, Gubler MC, Otto EA, Antignac C, Kim J, Benmerah A, Hildebrandt F, Saunier S. Failler M, et al. Among authors: alibeu o. Am J Hum Genet. 2014 Jun 5;94(6):905-14. doi: 10.1016/j.ajhg.2014.05.002. Epub 2014 May 29. Am J Hum Genet. 2014. PMID: 24882706 Free PMC article.
20 results