Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

por Kagami, Masayo, Kato, Fumiko, Matsubara, Keiko, Sato, Tomoko, Nishimura, Gen, Ogata, Tsutomu
Publicado 2012

Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review

por Sano, Shinichiro, Masunaga, Yohei, Kato, Fumiko, Fujisawa, Yasuko, Saitsu, Hirotomo, Ogata, Tsutomu
Publicado 2022

Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

por Yamoto, Kaori, Saitsu, Hirotomo, Fujisawa, Yasuko, Kato, Fumiko, Matsubara, Keiko, Fukami, Maki, Kagami, Masayo, Ogata, Tsutomu
Publicado 2020

Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia

por Masunaga, Yohei, Kagami, Masayo, Kato, Fumiko, Usui, Takeshi, Yonemoto, Takako, Mishima, Kazuo, Fukami, Maki, Aoto, Kazushi, Saitsu, Hirotomo, Ogata, Tsutomu
Publicado 2021

TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

por Ogata, Tsutomu, Niihori, Tetsuya, Tanaka, Noriko, Kawai, Masahiko, Nagashima, Takeshi, Funayama, Ryo, Nakayama, Keiko, Nakashima, Shinichi, Kato, Fumiko, Fukami, Maki, Aoki, Yoko, Matsubara, Yoichi
Publicado 2014

Paternal uniparental disomy 14 and related disorders: Placental gene expression analyses and histological examinations

por Kagami, Masayo, Matsuoka, Kentaro, Nagai, Toshiro, Yamanaka, Michiko, Kurosawa, Kenji, Suzumori, Nobuhiro, Sekita, Yoichi, Miyado, Mami, Matsubara, Keiko, Fuke, Tomoko, Kato, Fumiko, Fukami, Maki, Ogata, Tsutomu
Publicado 2012

The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers

por Kagami, Masayo, O'Sullivan, Maureen J., Green, Andrew J., Watabe, Yoshiyuki, Arisaka, Osamu, Masawa, Nobuhide, Matsuoka, Kentarou, Fukami, Maki, Matsubara, Keiko, Kato, Fumiko, Ferguson-Smith, Anne C., Ogata, Tsutomu
Publicado 2010

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