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2,823 results

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Page 1
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.
El-Bazzal L, Rihan K, Bernard-Marissal N, Castro C, Chouery-Khoury E, Desvignes JP, Atkinson A, Bertaux K, Koussa S, Lévy N, Bartoli M, Mégarbané A, Jabbour R, Delague V. El-Bazzal L, et al. Among authors: castro c. Hum Mol Genet. 2019 Jul 15;28(14):2378-2394. doi: 10.1093/hmg/ddz060. Hum Mol Genet. 2019. PMID: 31090908
A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
Chouery E, Abou-Ghoch J, Corbani S, El Ali N, Korban R, Salem N, Castro C, Klayme S, Azoury-Abou Rjeily M, Khoury-Matar R, Debo G, Germanos-Haddad M, Delague V, Lefranc G, Mégarbané A. Chouery E, et al. Among authors: castro c. Clin Genet. 2012 Nov;82(5):489-93. doi: 10.1111/j.1399-0004.2011.01783.x. Epub 2011 Oct 5. Clin Genet. 2012. PMID: 21906047
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Steiß JO, Hahn A, Csaicsich D, Castro C, Assoum M, Müller T, Wieczorek D, Mancini GM, Sadowski CE, Lévy N, Mégarbané A, Godbole K, Schanze D, Hildebrandt F, Delague V, Janecke AR, Zenker M. Vodopiutz J, et al. Among authors: castro c. Hum Mutat. 2015 Nov;36(11):1021-8. doi: 10.1002/humu.22828. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26123727 Free PMC article.
SOX11-related syndrome: report on a new case and review.
Wakim V, Nair P, Delague V, Bizzari S, Al-Ali MT, Castro C, Gambarini A, El-Hayek S, Megarbane A. Wakim V, et al. Among authors: castro c. Clin Dysmorphol. 2021 Jan;30(1):44-49. doi: 10.1097/MCD.0000000000000348. Clin Dysmorphol. 2021. PMID: 33086258 Review. No abstract available.
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
Mégarbané A, Hana S, Mégarbané H, Castro C, Baulande S, Criqui A, Roëckel-Trevisiol N, Dagher C, Al-Ali MT, Desvignes JP, Mahfoud D, El-Hayek S, Delague V. Mégarbané A, et al. Among authors: castro c. Mol Syndromol. 2021 Oct;12(6):342-350. doi: 10.1159/000517253. Epub 2021 Aug 31. Mol Syndromol. 2021. PMID: 34899143 Free PMC article.
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
El-Bazzal L, Ghata A, Estève C, Gadacha J, Quintana P, Castro C, Roeckel-Trévisiol N, Lembo F, Lenfant N, Mégarbané A, Borg JP, Lévy N, Bartoli M, Poitelon Y, Roubertoux PL, Delague V, Bernard-Marissal N. El-Bazzal L, et al. Among authors: castro c. Brain. 2023 May 2;146(5):1844-1858. doi: 10.1093/brain/awac402. Brain. 2023. PMID: 36314052 Free PMC article.
Structure of the K58 capsular polysaccharide produced by Acinetobacter baumannii isolate MRSN 31468 includes Pse5Ac7Ac that is 4-O-acetylated by a phage-encoded acetyltransferase.
Iovine A, Filatov AV, Kasimova AA, Sharar NS, Ambrose SJ, Dmitrenok AS, Shneider MM, Shpirt AM, Perepelov AV, Knirel YA, Hall RM, De Castro C, Kenyon JJ. Iovine A, et al. Among authors: de castro c. Carbohydr Res. 2024 Nov 19;547:109324. doi: 10.1016/j.carres.2024.109324. Online ahead of print. Carbohydr Res. 2024. PMID: 39579714 Free article.
2,823 results