A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome

por Yamamoto, Sayaka, Okuhara, Koji, Tonoki, Hidefumi, Iizuka, Susumu, Nihei, Noriko, Tajima, Toshihiro
Publicado 2013

A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy

por Hishimura-Yonemaru, Nozomi, Okuhara, Koji, Takahashi, Nobuhiro, Tonoki, Hidefumi, Iizuka, Susumu, Tajima, Toshihiro
Publicado 2017

Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome

por Higashimoto, Ken, Watanabe, Hijiri, Tanoue, Yuka, Tonoki, Hidefumi, Tokutomi, Tomoharu, Hara, Satoshi, Yatsuki, Hitomi, Soejima, Hidenobu
Publicado 2021

Isolation of Differentiated Squamous and Undifferentiated Spindle Carcinoma Cell Lines with Differing Metastatic Potential from a 4‐Nitroquinoline N‐Oxide‐induced Tongue Carcinoma...

por Takeuchi, Shinichi, Nakanishi, Hayao, Yoshida, Kenji, Yamamoto, Shinji, Tonoki, Hidefumi, Tsukamoto, Takahisa, Fukushima, Shoji, Moriuchi, Tetsuya, Kurita, Kenichi, Tatematsu, Masae
Publicado 2000

A constitutional jumping translocation involving the Y and acrocentric chromosomes

por Tsutsumi, Makiko, Fujita, Naoko, Suzuki, Fumihiko, Mishima, Takashi, Fujieda, Satoko, Watari, Michiko, Takahashi, Nobuhiro, Tonoki, Hidefumi, Moriwaka, Osamu, Endo, Toshiaki, Kurahashi, Hiroki
Publicado 2019

Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome

por Hishimura, Nozomi, Watari, Michiko, Ohata, Hiroki, Fuseya, Naho, Wakiguchi, Sadae, Tokutomi, Tomoharu, Okuhara, Kouji, Takahashi, Nobuhiro, Iizuka, Susumu, Yamamoto, Hiroshi, Mishima, Takashi, Fujieda, Satoko, Kobayashi, Ryoji, Cho, Kazutoshi, Kuroda, Yukiko, Kurosawa, Kenji, Tonoki, Hidefumi
Publicado 2016

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwit...

por Maeda, Toshiyuki, Higashimoto, Ken, Jozaki, Kosuke, Yatsuki, Hitomi, Nakabayashi, Kazuhiko, Makita, Yoshio, Tonoki, Hidefumi, Okamoto, Nobuhiko, Takada, Fumio, Ohashi, Hirofumi, Migita, Makoto, Kosaki, Rika, Matsubara, Keiko, Ogata, Tsutomu, Matsuo, Muneaki, Hamasaki, Yuhei, Ohtsuka, Yasufumi, Nishioka, Kenichi, Joh, Keiichiro, Mukai, Tsunehiro, Hata, Kenichiro, Soejima, Hidenobu
Publicado 2014

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

por Nagata, Eiko, Kano, Hiroki, Kato, Fumiko, Yamaguchi, Rie, Nakashima, Shinichi, Takayama, Shinichiro, Kosaki, Rika, Tonoki, Hidefumi, Mizuno, Seiji, Watanabe, Satoshi, Yoshiura, Koh-ichiro, Kosho, Tomoki, Hasegawa, Tomonobu, Kimizuka, Mamori, Suzuki, Atsushi, Shimizu, Kenji, Ohashi, Hirofumi, Haga, Nobuhiko, Numabe, Hironao, Horii, Emiko, Nagai, Toshiro, Yoshihashi, Hiroshi, Nishimura, Gen, Toda, Tatsushi, Takada, Shuji, Yokoyama, Shigetoshi, Asahara, Hiroshi, Sano, Shinichiro, Fukami, Maki, Ikegawa, Shiro, Ogata, Tsutomu
Publicado 2014