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Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families.
Schreurs MAC, Schmidt MK, Hollestelle A, Schaapveld M; Hereditary Breast and Ovarian Cancer Research Group Netherlands; van Asperen CJ, Ausems MGEM, van de Beek I, Broekema MF, Collée JM, van der Hout AH, van Kaam KJAF, Komdeur FL, Mensenkamp AR, Adank MA, Hooning M. Schreurs MAC, et al. Genet Med. 2024 May 31:101171. doi: 10.1016/j.gim.2024.101171. Online ahead of print. Genet Med. 2024. PMID: 38828701
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion.
Correa-da-Silva F, Carter J, Wang XY, Sun R, Pathak E, Kuhn JMM, Schriever SC, Maya-Monteiro CM, Jiao H, Kalsbeek MJ, Moraes-Vieira PMM, Gille JJP, Sinnema M, Stumpel CTRM, Curfs LMG, Stenvers DJ, Pfluger PT, Lutter D, Pereira AM, Kalsbeek A, Fliers E, Swaab DF, Wilkinson L, Gao Y, Yi CX. Correa-da-Silva F, et al. Among authors: gille jjp. Acta Neuropathol. 2024 Mar 31;147(1):64. doi: 10.1007/s00401-024-02714-0. Acta Neuropathol. 2024. PMID: 38556574 Free PMC article.
[Treatment of Burn Shock - The First 24 hours and Beyond].
Böhm D, Bliesener B, Dieck T, Kruse M, Odenthal T, Stoppe C, Trojan S, Gille J. Böhm D, et al. Among authors: gille j. Handchir Mikrochir Plast Chir. 2024 Apr;56(2):166-171. doi: 10.1055/a-2208-8107. Epub 2024 Feb 27. Handchir Mikrochir Plast Chir. 2024. PMID: 38412995 Review. German.
Optimization of performance of Dutch newborn screening for cystic fibrosis.
Bouva MJ, Dankert-Roelse JE, van der Ploeg C, Verschoof-Puite RK, Zomer-van Ommen DD, Gille J, Jakobs BS, Heijnen M, de Winter-de Groot KM. Bouva MJ, et al. Among authors: gille j. J Cyst Fibros. 2024 Jan;23(1):120-125. doi: 10.1016/j.jcf.2023.09.001. Epub 2023 Sep 15. J Cyst Fibros. 2024. PMID: 37716879
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
van de Beek I, Glykofridis IE, Tanck MWT, Luijten MNH, Starink TM, Balk JA, Johannesma PC, Hennekam E, van den Hoff MJB, Gunst QD, Gille JJP, Polstra AM, Postmus PE, van Steensel MAM, Postma AV, Wolthuis RMF, Menko FH, Houweling AC, Waisfisz Q. van de Beek I, et al. Among authors: gille jjp. J Hum Genet. 2023 Apr;68(4):273-279. doi: 10.1038/s10038-022-01113-1. Epub 2023 Jan 4. J Hum Genet. 2023. PMID: 36599954
367 results