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Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.
Hongo H, Miyawaki S, Teranishi Y, Mitsui J, Katoh H, Komura D, Tsubota K, Matsukawa T, Watanabe M, Kurita M, Yoshimura J, Dofuku S, Ohara K, Ishigami D, Okano A, Kato M, Hakuno F, Takahashi A, Kunita A, Ishiura H, Shin M, Nakatomi H, Nagao T, Goto H, Takahashi SI, Ushiku T, Ishikawa S, Okazaki M, Morishita S, Tsuji S, Saito N. Hongo H, et al. Among authors: yoshimura j. Angiogenesis. 2023 Feb;26(1):37-52. doi: 10.1007/s10456-022-09846-5. Epub 2022 Jul 29. Angiogenesis. 2023. PMID: 35902510 Free PMC article.
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.
CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.
Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S. Mitsui J, et al. Among authors: yoshimura j. Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):951-7. doi: 10.1002/ajmg.b.32100. Epub 2012 Oct 4. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 23038421
264 results