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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: shimizu k. 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.
Progressive subglottic stenosis in a child with Pallister-Killian syndrome.
Shiohama T, Fujii K, Shimizu K, Ohashi H, Takatani T, Okamoto N, Nishimura G, Kato M, Shimojo N. Shiohama T, et al. Among authors: shimizu k. Congenit Anom (Kyoto). 2018 May;58(3):102-104. doi: 10.1111/cga.12240. Epub 2017 Aug 29. Congenit Anom (Kyoto). 2018. PMID: 28745802
First Patient With Salla Disease Confirmed by Genomic Analysis in Japan.
Matsuura R, Hamano SI, Iwamoto T, Shimizu K, Ohashi H. Matsuura R, et al. Among authors: shimizu k. Pediatr Neurol. 2018 Apr;81:52-53. doi: 10.1016/j.pediatrneurol.2018.01.002. Epub 2018 Jan 31. Pediatr Neurol. 2018. PMID: 29472023 No abstract available.
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
Itai T, Wang Z, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N, Ikegawa S. Itai T, et al. Among authors: shimizu k. Clin Genet. 2022 Jul;102(1):3-11. doi: 10.1111/cge.14133. Epub 2022 Apr 5. Clin Genet. 2022. PMID: 35342932
Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
Narumi Y, Min BJ, Shimizu K, Kazukawa I, Sameshima K, Nakamura K, Kosho T, Rhee Y, Chung YS, Kim OH, Fukushima Y, Park WY, Nishimura G. Narumi Y, et al. Among authors: shimizu k. Am J Med Genet A. 2013 Mar;161A(3):518-26. doi: 10.1002/ajmg.a.35772. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401378
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura K, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura G, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T. Nagata E, et al. Among authors: shimizu k. Orphanet J Rare Dis. 2014 Oct 21;9:125. doi: 10.1186/s13023-014-0125-5. Orphanet J Rare Dis. 2014. PMID: 25351291 Free PMC article.
7,188 results