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Page 1
RASopathies for Radiologists.
Handa A, Tsujioka Y, Nishimura G, Nozaki T, Kono T, Jinzaki M, Harms T, Connolly SA, Sato TS, Sato Y. Handa A, et al. Among authors: nishimura g. Radiographics. 2024 May;44(5):e230153. doi: 10.1148/rg.230153. Radiographics. 2024. PMID: 38602868
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review.
Wang L, Mizumoto S, Zhang R, Zhang Y, Liu Y, Cheng W, Li X, Dan M, Zhang C, Gao X, Wang J, Han J, Jiao L, Wang Y, Jin Q, Yang L, Li C, Li S, Zhu J, Jiang H, Nishimura G, Yamada T, Yamada S, Cai N, Qiang R, Guo L. Wang L, et al. Among authors: nishimura g. J Hum Genet. 2024 Apr 2. doi: 10.1038/s10038-024-01248-3. Online ahead of print. J Hum Genet. 2024. PMID: 38565611
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.
Farshadyeganeh P, Yamada T, Ohashi H, Nishimura G, Fujita H, Oishi Y, Nunode M, Ishikawa S, Murotsuki J, Yamashita Y, Ikegawa S, Ogi T, Arikawa-Hirasawa E, Ohno K. Farshadyeganeh P, et al. Among authors: nishimura g. J Hum Genet. 2024 Feb 29. doi: 10.1038/s10038-024-01229-6. Online ahead of print. J Hum Genet. 2024. PMID: 38424183
Pachydysostosis of the fibula in a case of familial adenomatous polyposis.
Oliveira D, Maia S, Balacó I, Coelho P, Almeida S, Venâncio M, Saraiva J, Nishimura G, Sousa SB. Oliveira D, et al. Among authors: nishimura g. Eur J Med Genet. 2024 Apr;68:104913. doi: 10.1016/j.ejmg.2024.104913. Epub 2024 Jan 28. Eur J Med Genet. 2024. PMID: 38286305 Free article.
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Jacob P, Lindelöf H, Rustad CF, Sutton VR, Moosa S, Udupa P, Hammarsjö A, Bhavani GS, Batkovskyte D, Tveten K, Dalal A, Horemuzova E, Nordgren A, Tham E, Shah H, Merckoll E, Orellana L, Nishimura G, Girisha KM, Grigelioniene G. Jacob P, et al. Among authors: nishimura g. NPJ Genom Med. 2023 Nov 22;8(1):39. doi: 10.1038/s41525-023-00380-x. NPJ Genom Med. 2023. PMID: 37993442 Free PMC article.
708 results