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Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance.
Hosoe J, Miya F, Kadowaki H, Fujiwara T, Suzuki K, Kato T, Waki H, Sasako T, Aizu K, Yamamura N, Sasaki F, Kurano M, Hara K, Tanaka M, Ishiura H, Tsuji S, Honda K, Yoshimura J, Morishita S, Matsuzawa F, Aikawa SI, Boroevich KA, Nangaku M, Okada Y, Tsunoda T, Shojima N, Yamauchi T, Kadowaki T. Hosoe J, et al. Among authors: yoshimura j. Diabetes Res Clin Pract. 2020 Nov;169:108461. doi: 10.1016/j.diabres.2020.108461. Epub 2020 Sep 22. Diabetes Res Clin Pract. 2020. PMID: 32971154
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.
Teranishi Y, Miyawaki S, Hongo H, Dofuku S, Okano A, Takayanagi S, Ota T, Yoshimura J, Qu W, Mitsui J, Nakatomi H, Morishita S, Tsuji S, Saito N. Teranishi Y, et al. Among authors: yoshimura j. J Med Genet. 2021 Oct;58(10):701-711. doi: 10.1136/jmedgenet-2020-106973. Epub 2020 Oct 16. J Med Genet. 2021. PMID: 33067351
Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing.
Teranishi Y, Miyawaki S, Nakatomi H, Ohara K, Hongo H, Dofuku S, Okano A, Takayanagi S, Ota T, Yoshimura J, Qu W, Mitsui J, Morishita S, Tsuji S, Saito N. Teranishi Y, et al. Among authors: yoshimura j. Sci Rep. 2022 Jun 9;12(1):9543. doi: 10.1038/s41598-022-13580-9. Sci Rep. 2022. PMID: 35681071 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: yoshimura 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.
264 results