Congenital disorders of estrogen biosynthesis and action
Fukami, Maki, Ogata, Tsutomu
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.01.2022)
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.01.2022)
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Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature
Masunaga, Yohei, Ono, Hiroyuki, Fujisawa, Yasuko, Taniguchi, Kiyosu, Saitsu, Hirotomo, Ogata, Tsutomu
Published in Endocrine Journal (01.01.2024)
Published in Endocrine Journal (01.01.2024)
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Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment
Court, Franck, Tayama, Chiharu, Romanelli, Valeria, Martin-Trujillo, Alex, Iglesias-Platas, Isabel, Okamura, Kohji, Sugahara, Naoko, Simón, Carlos, Moore, Harry, Harness, Julie V, Keirstead, Hans, Sanchez-Mut, Jose Vicente, Kaneki, Eisuke, Lapunzina, Pablo, Soejima, Hidenobu, Wake, Norio, Esteller, Manel, Ogata, Tsutomu, Hata, Kenichiro, Nakabayashi, Kazuhiko, Monk, David
Published in Genome research (01.04.2014)
Published in Genome research (01.04.2014)
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Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures
Nakashima, Mitsuko, Tohyama, Jun, Nakagawa, Eiji, Watanabe, Yoshihiro, Siew, Ch'ng Gaik, Kwong, Chieng Siik, Yamoto, Kaori, Hiraide, Takuya, Fukuda, Tokiko, Kaname, Tadashi, Nakabayashi, Kazuhiko, Hata, Kenichiro, Ogata, Tsutomu, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Journal of human genetics (01.04.2019)
Published in Journal of human genetics (01.04.2019)
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Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
Aoki, Yoko, Niihori, Tetsuya, Banjo, Toshihiro, Okamoto, Nobuhiko, Mizuno, Seiji, Kurosawa, Kenji, Ogata, Tsutomu, Takada, Fumio, Yano, Michihiro, Ando, Toru, Hoshika, Tadataka, Barnett, Christopher, Ohashi, Hirofumi, Kawame, Hiroshi, Hasegawa, Tomonobu, Okutani, Takahiro, Nagashima, Tatsuo, Hasegawa, Satoshi, Funayama, Ryo, Nagashima, Takeshi, Nakayama, Keiko, Inoue, Shin-ichi, Watanabe, Yusuke, Ogura, Toshihiko, Matsubara, Yoichi
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing
Hiraide, Takuya, Shimizu, Kenji, Miyamoto, Sachiko, Aoto, Kazushi, Nakashima, Mitsuko, Yamaguchi, Tomomi, Kosho, Tomoki, Ogata, Tsutomu, Saitsu, Hirotomo
Published in Journal of human genetics (01.07.2022)
Published in Journal of human genetics (01.07.2022)
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Association of four imprinting disorders and ART
Hattori, Hiromitsu, Hiura, Hitoshi, Kitamura, Akane, Miyauchi, Naoko, Kobayashi, Norio, Takahashi, Souta, Okae, Hiroaki, Kyono, Koichi, Kagami, Masayo, Ogata, Tsutomu, Arima, Takahiro
Published in Clinical epigenetics (07.02.2019)
Published in Clinical epigenetics (07.02.2019)
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11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome
Yoshida, Tomoko, Matsuzaki, Toshiya, Miyado, Mami, Saito, Kazuki, Iwasa, Takeshi, Matsubara, Yoichi, Ogata, Tsutomu, Irahara, Minoru, Fukami, Maki
Published in Endocrine Journal (01.01.2018)
Published in Endocrine Journal (01.01.2018)
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A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
Hiraide, Takuya, Shimizu, Kenji, Okumura, Yoshinori, Miyamoto, Sachiko, Nakashima, Mitsuko, Ogata, Tsutomu, Saitsu, Hirotomo
Published in Journal of human genetics (01.07.2023)
Published in Journal of human genetics (01.07.2023)
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Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant
Hiraide, Takuya, Tanaka, Taihei, Masunaga, Yohei, Ohkubo, Yumiko, Nakashima, Mitsuko, Fukuda, Tokiko, Ogata, Tsutomu, Saitsu, Hirotomo
Published in Journal of human genetics (01.12.2021)
Published in Journal of human genetics (01.12.2021)
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Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata
Hiraide, Takuya, Masunaga, Yohei, Honda, Akira, Kato, Fumiko, Fukuda, Tokiko, Fukami, Maki, Nakashima, Mitsuko, Saitsu, Hirotomo, Ogata, Tsutomu
Published in Journal of human genetics (01.05.2022)
Published in Journal of human genetics (01.05.2022)
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