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YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B. Denommé-Pichon AS, et al. Among authors: legius e. Genet Med. 2023 Jul;25(7):100835. doi: 10.1016/j.gim.2023.100835. Epub 2023 Mar 28. Genet Med. 2023. PMID: 36999555 Free article. Review.
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.
van der Laan L, Rooney K, Alders M, Relator R, McConkey H, Kerkhof J, Levy MA, Lauffer P, Aerden M, Theunis M, Legius E, Tedder ML, Vissers LELM, Koene S, Ruivenkamp C, Hoffer MJV, Wieczorek D, Bramswig NC, Herget T, González VL, Santos-Simarro F, Tørring PM, Denomme-Pichon AS, Isidor B, Keren B, Julia S, Schaefer E, Francannet C, Maillard PY, Misra-Isrie M, Van Esch H, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: legius e. Int J Mol Sci. 2022 Nov 8;23(22):13664. doi: 10.3390/ijms232213664. Int J Mol Sci. 2022. PMID: 36430143 Free PMC article.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Aerden M, Denommé-Pichon AS, Bonneau D, Bruel AL, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray FG, Bramswig NC, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring PM, Renieri A, Bruno LP, Õunap K, Wojcik M, Hsieh TC, Krawitz P, Van Esch H. Aerden M, et al. Among authors: legius e. Eur J Hum Genet. 2023 Apr;31(4):461-468. doi: 10.1038/s41431-023-01307-x. Epub 2023 Feb 7. Eur J Hum Genet. 2023. PMID: 36747006 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.
Gonadales und gonadosomatisches Neurofibromatose-Typ-1-Mosaik: ein Bericht über zwei Familien: 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):426-429. doi: 10.1111/ddg.15302_g. J Dtsch Dermatol Ges. 2024. PMID: 38450814 No abstract available.
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.
326 results