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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 2
1992 2
1993 2
1995 2
1999 1
2000 1
2001 2
2003 1
2004 1
2006 2
2007 1
2008 2
2009 5
2010 3
2011 2
2012 2
2013 2
2014 2
2015 1
2016 1
2017 4
2018 4
2019 5
2020 2
2021 4
2022 5
2023 3
2024 0

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55 results

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Page 1
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Frémond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldán A, García-Pérez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenço CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H Jr, Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N, Crow YJ. Uggenti C, et al. Among authors: peudenier s. Nat Genet. 2020 Dec;52(12):1364-1372. doi: 10.1038/s41588-020-00737-3. Epub 2020 Nov 23. Nat Genet. 2020. PMID: 33230297 Free article.
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Couloigner L, Planes M, Ka C, Audebert-Bellanger S, Redon S, Benech C, Rouault K, Küry S, Peudenier S, Autret S, Gourlaouen I, Bonneau D, Odent S, Bézieau S, Gilbert-Dussardier B, Toutain A, Boland A, Deleuze JF, Le Marechal C, Le Gac G, Ferec C, Uguen K. Couloigner L, et al. Among authors: peudenier s. Clin Genet. 2023 Mar;103(3):377-379. doi: 10.1111/cge.14270. Epub 2022 Dec 1. Clin Genet. 2023. PMID: 36444497 Review. No abstract available.
Clinical characteristics of COVID-19 infection in polyhandicapped persons in France.
Rousseau MC, Hully M, Milh M, Juzeau D, Pollez B, Peudenier S, Bahi Buisson N, Gautheron V; French Polyhandicap (PLH), COVID Observatory Group; Chabrol B, Billette de Villemeur T. Rousseau MC, et al. Among authors: peudenier s. Arch Pediatr. 2021 Jul;28(5):374-380. doi: 10.1016/j.arcped.2021.04.004. Epub 2021 Apr 24. Arch Pediatr. 2021. PMID: 33994267 Free PMC article.
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group. Sanson B, et al. Orphanet J Rare Dis. 2022 Mar 2;17(1):96. doi: 10.1186/s13023-021-01793-6. Orphanet J Rare Dis. 2022. PMID: 35236385 Free PMC article.
A Hemimotor Deficit in an 18-Month-Old Boy Revealing Acute Myelitis.
Gelebart C, Sacaze E, Peudenier S, Legeas O, Ropars J. Gelebart C, et al. Among authors: peudenier s. Neuropediatrics. 2019 Oct;50(5):332-333. doi: 10.1055/s-0039-1684051. Epub 2019 Apr 22. Neuropediatrics. 2019. PMID: 31009954 No abstract available.
55 results