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Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Enomoto Y, Yokoi T, Tsurusaki Y, Murakami H, Tominaga M, Minatogawa M, Abe-Hatano C, Kuroda Y, Ohashi I, Ida K, Shiiya S, Kumaki T, Naruto T, Mitsui J, Harada N, Kido Y, Kurosawa K. Enomoto Y, et al. Among authors: mitsui j. Clin Genet. 2022 Mar;101(3):335-345. doi: 10.1111/cge.14103. Epub 2022 Jan 4. Clin Genet. 2022. PMID: 34958122
Meningiomas in patients with neurofibromatosis type 2 predominantly comprise 'immunogenic subtype' tumours characterised by macrophage infiltration.
Teranishi Y, Miyawaki S, Nakatochi M, Okano A, Ohara K, Hongo H, Ishigami D, Sakai Y, Shimada D, Takayanagi S, Ikemura M, Komura D, Katoh H, Mitsui J, Morishita S, Ushiku T, Ishikawa S, Nakatomi H, Saito N. Teranishi Y, et al. Among authors: mitsui j. Acta Neuropathol Commun. 2023 Sep 26;11(1):156. doi: 10.1186/s40478-023-01645-3. Acta Neuropathol Commun. 2023. PMID: 37752594 Free PMC article.
Human genetic variation database, a reference database of genetic variations in the Japanese population.
Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F. Higasa K, et al. Among authors: mitsui j. J Hum Genet. 2016 Jun;61(6):547-53. doi: 10.1038/jhg.2016.12. Epub 2016 Feb 25. J Hum Genet. 2016. PMID: 26911352 Free PMC article.
Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
Yoshimura A, Yuan JH, Hashiguchi A, Hiramatsu Y, Ando M, Higuchi Y, Nakamura T, Okamoto Y, Matsumura K, Hamano T, Sawaura N, Shimatani Y, Kumada S, Okumura Y, Miyahara J, Yamaguchi Y, Kitamura S, Haginoya K, Mitsui J, Ishiura H, Tsuji S, Takashima H. Yoshimura A, et al. Among authors: mitsui j. Clin Genet. 2017 Sep;92(3):274-280. doi: 10.1111/cge.13002. Epub 2017 Apr 19. Clin Genet. 2017. PMID: 28244113
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.
Ando M, Higuchi Y, Okamoto Y, Yuan J, Yoshimura A, Takei J, Taniguchi T, Hiramatsu Y, Sakiyama Y, Hashiguchi A, Matsuura E, Nakagawa H, Sonoda K, Yamashita T, Tamura A, Terasawa H, Mitsui J, Ishiura H, Tsuji S, Takashima H. Ando M, et al. Among authors: mitsui j. J Hum Genet. 2022 Jul;67(7):399-403. doi: 10.1038/s10038-022-01019-y. Epub 2022 Jan 28. J Hum Genet. 2022. PMID: 35091664
PHACES-like syndrome with TMEM260 compound heterozygous variants.
Kuroda Y, Saito Y, Enomoto Y, Naruto T, Mitsui J, Kurosawa K. Kuroda Y, et al. Among authors: mitsui j. Am J Med Genet A. 2023 Aug;191(8):2215-2218. doi: 10.1002/ajmg.a.63245. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183566
160 results