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332 results

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Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases.
Dhaenens BAE, Heimann G, Bakker A, Nievo M, Ferner RE, Evans DG, Wolkenstein P, Leubner J, Potratz C, Carton C, Iloeje U, Kirk G, Blakeley JO, Plotkin S, Fisher MJ, Kim A, Driever PH, Azizi AA, Widemann BC, Gross A, Parke T, Legius E, Oostenbrink R. Dhaenens BAE, et al. Among authors: legius e. Neurooncol Pract. 2024 Jan 4;11(4):395-403. doi: 10.1093/nop/npae001. eCollection 2024 Aug. Neurooncol Pract. 2024. PMID: 39006526 Free PMC article.
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.
Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial.
Ottenhoff MJ, Mous SE, Castricum J, Rietman AB, Oostenbrink R, van der Vaart T, Tulen JHM, Parra A, Ramos FJ, Legius E, Moll HA, Elgersma Y, de Wit MY; ENCORE Expertise Center for NF1. Ottenhoff MJ, et al. Among authors: legius e. Dev Med Child Neurol. 2024 Sep 28. doi: 10.1111/dmcn.16094. Online ahead of print. Dev Med Child Neurol. 2024. PMID: 39340758
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, Cejudo L, Chong JX, De Luca C, Dean SJ, Egense A, Goel H, Guenzel AJ, Hüffmeier U, Legius E, Mancini GMS, Marcos-Alcalde I, Niclass T, Planes M, Redon S, Ros-Pardo D, Rouault K, Schot R, Schuhmann S, Shen JJ, Tao AM, Thiffault I, Van Esch H, Wentzensen IM, Barakat TS, Møller RS, Gomez-Puertas P, Chung WK, Gardella E, Tümer Z. Furia F, et al. Among authors: legius e. Clin Genet. 2024 Nov;106(5):574-584. doi: 10.1111/cge.14587. Epub 2024 Jul 11. Clin Genet. 2024. PMID: 38988293
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.
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.
332 results