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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1969 1
1981 2
1982 1
1983 2
1985 2
1986 2
1987 4
1988 4
1989 3
1990 7
1991 5
1992 2
1993 7
1994 12
1995 15
1996 18
1997 13
1998 24
1999 27
2000 19
2001 35
2002 21
2003 19
2004 29
2005 23
2006 22
2007 26
2008 19
2009 24
2010 25
2011 32
2012 28
2013 26
2014 22
2015 31
2016 39
2017 37
2018 31
2019 27
2020 28
2021 24
2022 19
2023 19
2024 6

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Search Results

703 results

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Page 1
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
Nosology and classification of genetic skeletal disorders: 2019 revision.
Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML. Mortier GR, et al. Among authors: nishimura g. Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21. Am J Med Genet A. 2019. PMID: 31633310
Prenatal diagnosis of bone dysplasias.
Nishimura G, Handa A, Miyazaki O, Tsujioka Y, Murotsuki J, Sawai H, Yamada T, Kozuma Y, Takahashi Y, Ozawa K, Pooh R, Sase M. Nishimura G, et al. Br J Radiol. 2023 Jul;96(1147):20221025. doi: 10.1259/bjr.20221025. Br J Radiol. 2023. PMID: 37351952 Review.
A primer on skeletal dysplasias.
Handa A, Nishimura G, Zhan MX, Bennett DL, El-Khoury GY. Handa A, et al. Among authors: nishimura g. Jpn J Radiol. 2022 Mar;40(3):245-261. doi: 10.1007/s11604-021-01206-5. Epub 2021 Oct 25. Jpn J Radiol. 2022. PMID: 34693503 Free PMC article. Review.
Skeletal ciliopathies: a pattern recognition approach.
Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G. Handa A, et al. Among authors: nishimura g. Jpn J Radiol. 2020 Mar;38(3):193-206. doi: 10.1007/s11604-020-00920-w. Epub 2020 Jan 21. Jpn J Radiol. 2020. PMID: 31965514 Review.
TRPV4-associated skeletal dysplasias.
Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S. Nishimura G, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):190-204. doi: 10.1002/ajmg.c.31335. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791502 Review.
[Pyknodysostosis].
Nishimura G. Nishimura G. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):550-1. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528889 Review. Japanese. No abstract available.
[Pyle disease].
Nishimura G. Nishimura G. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):552. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528890 Review. Japanese. No abstract available.
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang YM, Wei ZJ, Hüning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono R, Costain G, Hahn G, Di Donato N, Yigit G, Yamada T, Nishimura G, Ansel KM, Wollnik B, Hrabě de Angelis M, Mégarbané A, Rosenfeld JA, Heissmeyer V, Ikegawa S, Campeau PM. Guo L, et al. Among authors: nishimura g. Am J Hum Genet. 2023 Jul 6;110(7):1068-1085. doi: 10.1016/j.ajhg.2023.06.001. Epub 2023 Jun 22. Am J Hum Genet. 2023. PMID: 37352860 Free PMC article.
Additional report on Moreno-Nishimura-Schmidt overgrowth syndrome.
Handa A, Muroya K, Ishii T, Nishimura G. Handa A, et al. Among authors: nishimura g. Am J Med Genet A. 2017 Oct;173(10):2834-2837. doi: 10.1002/ajmg.a.38368. Epub 2017 Jul 25. Am J Med Genet A. 2017. PMID: 28742279 No abstract available.
703 results