Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

por Hiroyuki Ono, Hirotomo Saitsu, Reiko Horikawa, Shinichi Nakashima, Yumiko Ohkubo, Kumiko Yanagi, Kazuhiko Nakabayashi, Maki Fukami, Yasuko Fujisawa, Tsutomu Ogata
Publicado 2018

Evolution of imprinting via lineage-specific insertion of retroviral promoters

por Aaron B. Bogutz, Julie Brind’Amour, Hisato Kobayashi, Kristoffer N. Jensen, Kazuhiko Nakabayashi, Hiroo Imai, Matthew C. Lorincz, Louis Lefebvre
Publicado 2019

Identification of distinct loci for de novo DNA methylation by DNMT3A and DNMT3B during mammalian development

por Masaki Yagi, Mio Kabata, Akito Tanaka, Tomoyo Ukai, Sho Ohta, Kazuhiko Nakabayashi, Masahito Shimizu, Kenichiro Hata, Alexander Meissner, Takuya Yamamoto, Yasuhiro Yamada
Publicado 2020

Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.

por Maki Igarashi, Vu Chi Dung, Erina Suzuki, Shinobu Ida, Mariko Nakacho, Kazuhiko Nakabayashi, Kentaro Mizuno, Yutaro Hayashi, Kenjiro Kohri, Yoshiyuki Kojima, Tsutomu Ogata, Maki Fukami
Publicado 2013

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

por Tomoko Fuke, Seiji Mizuno, Toshiro Nagai, Tomonobu Hasegawa, Reiko Horikawa, Yoko Miyoshi, Koji Muroya, Tatsuro Kondoh, Chikahiko Numakura, Seiji Sato, Kazuhiko Nakabayashi, Chiharu Tayama, Kenichiro Hata, Shinichiro Sano, Keiko Matsubara, Masayo Kagami, Kazuki Yamazawa, Tsutomu Ogata
Publicado 2013

Identification of epigenetic memory candidates associated with gestational age at birth through analysis of methylome and transcriptional data

por Kohei Kashima, Tomoko Kawai, Riki Nishimura, Yuh Shiwa, Kevin Y. Urayama, Hiromi Kamura, Kazue Takeda, Saki Aoto, Atsushi Ito, Keiko Matsubara, Takeshi Nagamatsu, Tomoyuki Fujii, Isaku Omori, Mitsumasa Shimizu, Hironobu Hyodo, Koji Kugu, Kenji Matsumoto, Atsushi Shimizu, Akira Oka, Masashi Mizuguchi, Kazuhiko Nakabayashi, Kenichiro Hata, Naoto Takahashi
Publicado 2021