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Nosology of genetic skeletal disorders: 2023 revision.
Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Unger S, et al. Among authors: nishimura g. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13. Am J Med Genet A. 2023. PMID: 36779427 Free PMC 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.
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.
Yap JYC, Lim JY, Bhatia A, Tan VKJ, Koo S, Nishimura G, Moosa S, Koh AL, Tan EC, Fong N, Jamuar SS. Yap JYC, et al. Among authors: nishimura g. Am J Med Genet A. 2024 Feb;194(2):358-362. doi: 10.1002/ajmg.a.63420. Epub 2023 Oct 6. Am J Med Genet A. 2024. PMID: 37799085
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Batkovskyte D, McKenzie F, Taylan F, Simsek-Kiper PO, Nikkel SM, Ohashi H, Stevenson RE, Ha T, Cavalcanti DP, Miyahara H, Skinner SA, Aguirre MA, Akçören Z, Utine GE, Chiu T, Shimizu K, Hammarsjö A, Boduroglu K, Moore HW, Louie RJ, Arts P, Merrihew AN, Babic M, Jackson MR, Papadogiannakis N, Lindstrand A, Nordgren A, Barnett CP, Scott HS, Chagin AS, Nishimura G, Grigelioniene G. Batkovskyte D, et al. Among authors: nishimura g. J Bone Miner Res. 2023 May;38(5):692-706. doi: 10.1002/jbmr.4799. Epub 2023 Mar 27. J Bone Miner Res. 2023. PMID: 36896612 Free article.
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
Garza Flores A, Nordgren I, Pettersson M, Dias-Santagata D, Nilsson D, Hammarsjö A, Lindstrand A, Batkovskyte D, Wiggs J, Walton DS, Goldenberg P, Eisfeldt J, Lin AE, Lachman RS, Nishimura G, Grigelioniene G. Garza Flores A, et al. Among authors: nishimura g. Front Genet. 2023 Jun 23;14:1174046. doi: 10.3389/fgene.2023.1174046. eCollection 2023. Front Genet. 2023. PMID: 37424725 Free PMC article.
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
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.
708 results