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Showing results for paul villard
Search for Paul Villiard instead (1 results)
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Palaeogenomics of Upper Palaeolithic to Neolithic European hunter-gatherers.
Posth C, Yu H, Ghalichi A, Rougier H, Crevecoeur I, Huang Y, Ringbauer H, Rohrlach AB, Nägele K, Villalba-Mouco V, Radzeviciute R, Ferraz T, Stoessel A, Tukhbatova R, Drucker DG, Lari M, Modi A, Vai S, Saupe T, Scheib CL, Catalano G, Pagani L, Talamo S, Fewlass H, Klaric L, Morala A, Rué M, Madelaine S, Crépin L, Caverne JB, Bocaege E, Ricci S, Boschin F, Bayle P, Maureille B, Le Brun-Ricalens F, Bordes JG, Oxilia G, Bortolini E, Bignon-Lau O, Debout G, Orliac M, Zazzo A, Sparacello V, Starnini E, Sineo L, van der Plicht J, Pecqueur L, Merceron G, Garcia G, Leuvrey JM, Garcia CB, Gómez-Olivencia A, Połtowicz-Bobak M, Bobak D, Le Luyer M, Storm P, Hoffmann C, Kabaciński J, Filimonova T, Shnaider S, Berezina N, González-Rabanal B, González Morales MR, Marín-Arroyo AB, López B, Alonso-Llamazares C, Ronchitelli A, Polet C, Jadin I, Cauwe N, Soler J, Coromina N, Rufí I, Cottiaux R, Clark G, Straus LG, Julien MA, Renhart S, Talaa D, Benazzi S, Romandini M, Amkreutz L, Bocherens H, Wißing C, Villotte S, de Pablo JF, Gómez-Puche M, Esquembre-Bebia MA, Bodu P, Smits L, Souffi B, Jankauskas R, Kozakaitė J, Cupillard C, Benthien H, Wehrberger K, Schmitz RW, Feine SC, Schüler T, Thevenet C, G… See abstract for full author list ➔ Posth C, et al. Nature. 2023 Mar;615(7950):117-126. doi: 10.1038/s41586-023-05726-0. Epub 2023 Mar 1. Nature. 2023. PMID: 36859578 Free PMC article.
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, Villard L, Stegmann APA, Vanhoutte EK, Verdonschot JAJ, Kaiser FJ, Tran Mau-Them F, Scala M, Striano P, Frints SGM, Argilli E, Sherr EH, Elder F, Buratti J, Keren B, Mignot C, Héron D, Mandel JL, Gecz J, Kalscheuer VM, Horsthemke B, Piton A, Depienne C. Leitão E, et al. Nat Commun. 2022 Nov 2;13(1):6570. doi: 10.1038/s41467-022-34264-y. Nat Commun. 2022. PMID: 36323681 Free PMC article.
Liver Transplantation for Primary Sclerosing Cholangitis (PSC) With or Without Inflammatory Bowel Disease (IBD)-A European Society of Organ Transplantation (ESOT) Consensus Statement.
Carbone M, Della Penna A, Mazzarelli C, De Martin E, Villard C, Bergquist A, Line PD, Neuberger JM, Al-Shakhshir S, Trivedi PJ, Baumann U, Cristoferi L, Hov J, Fischler B, Hadzic NH, Debray D, D'Antiga L, Selzner N, Belli LS, Nadalin S. Carbone M, et al. Transpl Int. 2023 Sep 29;36:11729. doi: 10.3389/ti.2023.11729. eCollection 2023. Transpl Int. 2023. PMID: 37841645 Free PMC article.
Veno-arterial extracorporeal membrane oxygenation for circulatory failure in COVID-19 patients: insights from the ECMOSARS registry.
Anselmi A, Mansour A, Para M, Mongardon N, Porto A, Guihaire J, Morgant MC, Pozzi M, Cholley B, Falcoz PE, Gaudard P, Lebreton G, Labaste F, Barbanti C, Fouquet O, Chocron S, Mottard N, Esvan M, Fougerou-Leurent C, Flecher E, Vincentelli A, Nesseler N; ECMOSARS Investigators. Anselmi A, et al. Eur J Cardiothorac Surg. 2023 Sep 7;64(3):ezad229. doi: 10.1093/ejcts/ezad229. Eur J Cardiothorac Surg. 2023. PMID: 37280062
Conversion therapy in patients with colorectal liver metastases.
Villard C, Habib M, Nordenvall C, Nilsson PJ, Jorns C, Sparrelid E. Villard C, et al. Eur J Surg Oncol. 2021 Aug;47(8):2038-2045. doi: 10.1016/j.ejso.2021.02.019. Epub 2021 Feb 19. Eur J Surg Oncol. 2021. PMID: 33640172 Free article.
Immunogenicity and efficacy of          heterologous ChAdOx1-BNT162b2 vaccination.
Pozzetto B, Legros V, Djebali S, Barateau V, Guibert N, Villard M, Peyrot L, Allatif O, Fassier JB, Massardier-Pilonchéry A, Brengel-Pesce K, Yaugel-Novoa M, Denolly S, Boson B, Bourlet T, Bal A, Valette M, Andrieu T, Lina B; Covid-Ser study group; Cosset FL, Paul S, Defrance T, Marvel J, Walzer T, Trouillet-Assant S. Pozzetto B, et al. Nature. 2021 Dec;600(7890):701-706. doi: 10.1038/s41586-021-04120-y. Epub 2021 Oct 21. Nature. 2021. PMID: 34673755
29 results