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Page 1
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
Gérard L, Delourme M, Tardy C, Ganne B, Perrin P, Chaix C, Trani JP, Eudes N, Laberthonnière C, Bertaux K, Missirian C, Bassez G, Behin A, Cintas P, Cluse F, De La Cruz E, Delmont E, Evangelista T, Fradin M, Hadouiri N, Kouton L, Laforêt P, Lefeuvre C, Magot A, Manel V, Nectoux J, Pegat A, Sole G, Spinazzi M, Stojkovic T, Svahn J, Tard C, Thauvin C, Verebi C, Salort Campana E, Attarian S, Nguyen K, Badache A, Bernard R, Magdinier F. Gérard L, et al. Among authors: nectoux j. Eur J Hum Genet. 2024 Dec 26. doi: 10.1038/s41431-024-01781-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39725690
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions.
Pacot L, Ye M, Nectoux J, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Orhant L, Vaucouleur N, Blanché H, Parfait B, Wolkenstein P, Vidaud M; EURONET-NF; Vidaud D, Pasmant E. Pacot L, et al. Among authors: nectoux j. J Mol Diagn. 2024 Feb;26(2):150-157. doi: 10.1016/j.jmoldx.2023.11.005. Epub 2023 Nov 25. J Mol Diagn. 2024. PMID: 38008284 Free article.
Association Between Plasma Rituximab Concentration and the Risk of Major Relapse in Antineutrophil Cytoplasmic Antibody-Associated Vasculitides During Rituximab Maintenance Therapy.
Khoudour N, Delestre F, Jabot-Hanin F, Jouinot A, Nectoux J, Letouneur F, Izac B, Vidal M, Guillevin L, Puéchal X, Charles P, Terrier B, Blanchet B. Khoudour N, et al. Among authors: nectoux j. Arthritis Rheumatol. 2023 Nov;75(11):2003-2013. doi: 10.1002/art.42556. Epub 2023 Aug 13. Arthritis Rheumatol. 2023. PMID: 37134130 Clinical Trial.
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Lajmi Y, Loeuillet L, Petrilli G, Egloff C, Nectoux J, Molac C, Roux N, Pannier E, Achaiaa A, Arkoub ZA, Chuon S, Coussement A, Dupont JM, Malan V, Spaggiari E, Razavi F, Amiel J, Bessières B, Grotto S, Attié-Bitach T. Lajmi Y, et al. Among authors: nectoux j. Birth Defects Res. 2023 Mar 15;115(5):563-571. doi: 10.1002/bdr2.2141. Epub 2022 Dec 20. Birth Defects Res. 2023. PMID: 36538874
Chronic pain as a presenting feature of dysferlinopathy.
Sanchez-Casado L, Evangelista T, Nectoux J, Verebi C, Stojkovic T. Sanchez-Casado L, et al. Among authors: nectoux j. Neuromuscul Disord. 2024 Dec 14;46:105269. doi: 10.1016/j.nmd.2024.105269. Online ahead of print. Neuromuscul Disord. 2024. PMID: 39798170
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