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2003 4
2004 4
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2007 8
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173 results

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The following term was not found in PubMed: Thanassis
Page 1
CEP290 and the primary cilium.
Drivas TG, Bennett J. Drivas TG, et al. Adv Exp Med Biol. 2014;801:519-25. doi: 10.1007/978-1-4614-3209-8_66. Adv Exp Med Biol. 2014. PMID: 24664739 Review.
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Renaldo F, … See abstract for full author list ➔ Sheppard SE, et al. Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. Sci Adv. 2023. PMID: 36897941 Free PMC article.
From disease modelling to personalised therapy in patients with CEP290 mutations.
Molinari E, Srivastava S, Sayer JA, Ramsbottom SA. Molinari E, et al. F1000Res. 2017 May 12;6:669. doi: 10.12688/f1000research.11553.1. eCollection 2017. F1000Res. 2017. PMID: 28690834 Free PMC article.
Here we discuss observed changes in transcripts of the centrosomal protein CEP290 resulting not from degradation, but from changes in exon usage. We also comment on a landmark paper (Drivas et al. Sci Transl Med. 2015) where modelling this process of exon usage may be used …
Here we discuss observed changes in transcripts of the centrosomal protein CEP290 resulting not from degradation, but from changes in exon u …
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A, Nomakuchi TT, Chao E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, Bogus ZC, Bonanni M, Raper A, Kallish S, Ritchie MD; Regeneron Genetics Center; Penn Medicine BioBank; Nathanson KL, Drivas TG. Safonov A, et al. medRxiv [Preprint]. 2023 Aug 10:2023.08.08.23293676. doi: 10.1101/2023.08.08.23293676. medRxiv. 2023. PMID: 37609227 Free PMC article. Preprint.
Eulerian vs Lagrangian Irreversibility in an Experimental Turbulent Swirling Flow.
Cheminet A, Geneste D, Barlet A, Ostovan Y, Chaabo T, Valori V, Debue P, Cuvier C, Daviaud F, Foucaut JM, Laval JP, Padilla V, Wiertel-Gasquet C, Dubrulle B. Cheminet A, et al. Phys Rev Lett. 2022 Sep 16;129(12):124501. doi: 10.1103/PhysRevLett.129.124501. Phys Rev Lett. 2022. PMID: 36179185
In a turbulent fluid, the time-reversal symmetry is explicitly broken by viscosity, and spontaneously broken in the inviscid limit. Recently, Drivas [J. Nonlinear Sci. 29, 65 (2019).JNSCEK0938-897410.1007/s00332-018-9476-8] proved the equivalence of two different local ind …
In a turbulent fluid, the time-reversal symmetry is explicitly broken by viscosity, and spontaneously broken in the inviscid limit. Recently …
173 results