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332 results

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Page 1
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
Magallón-Lorenz M, Terribas E, Ortega-Bertran S, Creus-Bachiller E, Fernández M, Requena G, Rosas I, Mazuelas H, Uriarte-Arrazola I, Negro A, Lausová T, Castellanos E, Blanco I, DeVries G, Kawashima H, Legius E, Brems H, Mautner V, Kluwe L, Ratner N, Wallace M, Fernández-Rodriguez J, Lázaro C, Fletcher JA, Reuss D, Carrió M, Gel B, Serra E. Magallón-Lorenz M, et al. Among authors: legius e. iScience. 2023 Jan 31;26(2):106096. doi: 10.1016/j.isci.2023.106096. eCollection 2023 Feb 17. iScience. 2023. PMID: 36818284 Free PMC article.
Gonadal and gonadosomatic mosaicism in NF1: report of two families.
Seidl-Philipp M, Veyt N, Schnaiter S, Krogsdam A, Schwendinger S, Maertens O, Fauth C, Schmuth M, Legius E, Wimmer K, Brems H. Seidl-Philipp M, et al. Among authors: legius e. J Dtsch Dermatol Ges. 2024 Mar;22(3):426-428. doi: 10.1111/ddg.15302. Epub 2024 Jan 7. J Dtsch Dermatol Ges. 2024. PMID: 38185792 No abstract available.
Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules.
Lovatt C, Williams M, Gibbs A, Mukhtar A, Morgan HJ, Lanfredini S, Olivero C, Spurlock G, Davies S, Philpott C, Tovell H, Turnpenny P, Baban D, Knight S, Brems H, Sampson JR, Legius E, Upadhyaya M, Patel GK. Lovatt C, et al. Among authors: legius e. Skin Health Dis. 2024 Jun 24;4(5):e394. doi: 10.1002/ski2.394. eCollection 2024 Oct. Skin Health Dis. 2024. PMID: 39355740 Free PMC article.
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
Tsuiko O, El Ayeb Y, Jatsenko T, Allemeersch J, Melotte C, Ding J, Debrock S, Peeraer K, Vanhie A, De Leener A, Pirard C, Kluyskens C, Denayer E, Legius E, Vermeesch JR, Brems H, Dimitriadou E. Tsuiko O, et al. Among authors: legius e. Hum Reprod. 2023 Mar 1;38(3):511-519. doi: 10.1093/humrep/deac273. Hum Reprod. 2023. PMID: 36625546
[No title available]
[No authors listed] [No authors listed] PMID: 38450814
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.
Gallon R, Brekelmans C, Martin M, Bours V, Schamschula E, Amberger A, Muleris M, Colas C, Dekervel J, De Hertogh G, Coupier J, Colleye O, Sepulchre E, Burn J, Brems H, Legius E, Wimmer K. Gallon R, et al. Among authors: legius e. NPJ Precis Oncol. 2024 May 24;8(1):119. doi: 10.1038/s41698-024-00603-z. NPJ Precis Oncol. 2024. PMID: 38789506 Free PMC article.
TET2-Driver and NLRC4-Passenger Variants in Adult-Onset Autoinflammation.
De Langhe E, Van Loo S, Malengier-Devlies B, Metzemaekers M, Staels F, Vandenhaute J, Berghen N, Sciot R, Corveleyn A, Tšuiko O, Gouwy M, Lenaerts J, Verschueren P, Wouters CH, Proost P, Matthys P, Legius E, Schrijvers R. De Langhe E, et al. Among authors: legius e. N Engl J Med. 2023 Apr 27;388(17):1626-1629. doi: 10.1056/NEJMc2212928. N Engl J Med. 2023. PMID: 37099347 No abstract available.
332 results