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A novel 8.57-kb deletion of the upstream region of PRKAR1A in a family with Carney complex.
Ito S, Hashimoto A, Yamaguchi K, Kawamura S, Myoen S, Ogawa M, Sato I, Minato T, Miyabe S, Nakazato A, Fujii K, Mochizuki M, Fujimori H, Tamai K, Niihori T, Aoki Y, Sugawara A, Sasano H, Shima H, Yasuda J. Ito S, et al. Among authors: niihori t. Mol Genet Genomic Med. 2022 Mar;10(3):e1884. doi: 10.1002/mgg3.1884. Epub 2022 Feb 6. Mol Genet Genomic Med. 2022. PMID: 35128829 Free PMC article.
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Okuyama R, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y. Komatsuzaki S, et al. Among authors: niihori t. J Hum Genet. 2010 Dec;55(12):801-9. doi: 10.1038/jhg.2010.116. Epub 2010 Sep 30. J Hum Genet. 2010. PMID: 20882035
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S. Kamada F, et al. Among authors: niihori t. J Hum Genet. 2011 Jan;56(1):34-40. doi: 10.1038/jhg.2010.132. Epub 2010 Nov 4. J Hum Genet. 2011. PMID: 21048783
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
Narisawa A, Komatsuzaki S, Kikuchi A, Niihori T, Aoki Y, Fujiwara K, Tanemura M, Hata A, Suzuki Y, Relton CL, Grinham J, Leung KY, Partridge D, Robinson A, Stone V, Gustavsson P, Stanier P, Copp AJ, Greene ND, Tominaga T, Matsubara Y, Kure S. Narisawa A, et al. Among authors: niihori t. Hum Mol Genet. 2012 Apr 1;21(7):1496-503. doi: 10.1093/hmg/ddr585. Epub 2011 Dec 13. Hum Mol Genet. 2012. PMID: 22171071 Free PMC article.
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y; Costello and CFC syndrome study group in Japan. Abe Y, et al. Among authors: niihori t. Am J Med Genet A. 2012 May;158A(5):1083-94. doi: 10.1002/ajmg.a.35292. Epub 2012 Apr 11. Am J Med Genet A. 2012. PMID: 22495831
97 results