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Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, Ogi T. Oka Y, et al. Among authors: matsuda f. Sci Adv. 2020 Dec 18;6(51):eabd7197. doi: 10.1126/sciadv.abd7197. Print 2020 Dec. Sci Adv. 2020. PMID: 33355142 Free PMC article.
The FOXE1 and NKX2-1 loci are associated with susceptibility to papillary thyroid carcinoma in the Japanese population.
Matsuse M, Takahashi M, Mitsutake N, Nishihara E, Hirokawa M, Kawaguchi T, Rogounovitch T, Saenko V, Bychkov A, Suzuki K, Matsuo K, Tajima K, Miyauchi A, Yamada R, Matsuda F, Yamashita S. Matsuse M, et al. Among authors: matsuda f. J Med Genet. 2011 Sep;48(9):645-8. doi: 10.1136/jmedgenet-2011-100063. Epub 2011 Jul 5. J Med Genet. 2011. PMID: 21730105
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: matsuda f. 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.
Live-born diploid fetus complicated with partial molar pregnancy presenting with pre-eclampsia, maternal anemia, and seemingly huge placenta: A rare case of confined placental mosaicism and literature review.
Kawasaki K, Kondoh E, Minamiguchi S, Matsuda F, Higasa K, Fujita K, Mogami H, Chigusa Y, Konishi I. Kawasaki K, et al. Among authors: matsuda f. J Obstet Gynaecol Res. 2016 Aug;42(8):911-7. doi: 10.1111/jog.13025. Epub 2016 May 26. J Obstet Gynaecol Res. 2016. PMID: 27225660 Review.
901 results