Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome
Higashimoto, Ken, Watanabe, Hijiri, Tanoue, Yuka, Tonoki, Hidefumi, Tokutomi, Tomoharu, Hara, Satoshi, Yatsuki, Hitomi, Soejima, Hidenobu
Published in Journal of medical genetics (01.06.2021)
Published in Journal of medical genetics (01.06.2021)
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Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption
Yamada, Mamiko, Suzuki, Hisato, Miya, Fuyuki, Kosugiyama, Kiyotaka, Ujiie, Takeshi, Tonoki, Hidefumi, Kosaki, Kenjiro
Published in Congenital anomalies (01.07.2023)
Published in Congenital anomalies (01.07.2023)
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Journal Article
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)
Yamoto, Kaori, Saitsu, Hirotomo, Nishimura, Gen, Kosaki, Rika, Takayama, Shinichiro, Haga, Nobuhiko, Tonoki, Hidefumi, Okumura, Akihisa, Horii, Emiko, Okamoto, Nobuhiko, Suzumura, Hiroshi, Ikegawa, Shiro, Kato, Fumiko, Fujisawa, Yasuko, Nagata, Eiko, Takada, Shuji, Fukami, Maki, Ogata, Tsutomu
Published in European journal of human genetics : EJHG (01.12.2019)
Published in European journal of human genetics : EJHG (01.12.2019)
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Journal Article
A girl presenting with gradually elevated levels of serum creatinine: Questions
Hamada, Shiori, Kato, Chie, Takahashi, Toshiyuki, Hayashi, Asako, Ueda, Yasuhiro, Sato, Yasuyuki, Tonoki, Hidefumi, Okamoto, Takayuki
Published in Pediatric nephrology (Berlin, West) (01.08.2020)
Published in Pediatric nephrology (Berlin, West) (01.08.2020)
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Journal Article
A girl presenting with gradually elevated levels of serum creatinine: Answers
Hamada, Shiori, Kato, Chie, Takahashi, Toshiyuki, Hayashi, Asako, Ueda, Yasuhiro, Sato, Yasuyuki, Tonoki, Hidefumi, Okamoto, Takayuki
Published in Pediatric nephrology (Berlin, West) (01.08.2020)
Published in Pediatric nephrology (Berlin, West) (01.08.2020)
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Journal Article
A constitutional jumping translocation involving the Y and acrocentric chromosomes
Tsutsumi, Makiko, Fujita, Naoko, Suzuki, Fumihiko, Mishima, Takashi, Fujieda, Satoko, Watari, Michiko, Takahashi, Nobuhiro, Tonoki, Hidefumi, Moriwaka, Osamu, Endo, Toshiaki, Kurahashi, Hiroki
Published in Asian journal of andrology (01.01.2019)
Published in Asian journal of andrology (01.01.2019)
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Journal Article
Miller‐Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by fluorescence in situ hybridization and G‐banding analysis using high resolution banding technique
Mishima, Takashi, Watari, Michiko, Iwaki, Yutaka, Nagai, Takumi, Kawamata‐Nakamura, Miho, Kobayashi, Yukako, Fujieda, Satoko, Oikawa, Mamoru, Takahashi, Nobuhiro, Keira, Mitsuaki, Yoshida, Hiroshi, Tonoki, Hidefumi
Published in Congenital anomalies (01.03.2017)
Published in Congenital anomalies (01.03.2017)
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Journal Article
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
Kuniba, Hideo, Yoshiura, Koh-ichiro, Kondoh, Tatsuro, Ohashi, Hirofumi, Kurosawa, Kenji, Tonoki, Hidefumi, Nagai, Toshiro, Okamoto, Nobuhiko, Kato, Mitsuhiro, Fukushima, Yoshimitsu, Kaname, Tadashi, Naritomi, Kenji, Matsumoto, Tadashi, Moriuchi, Hiroyuki, Kishino, Tatsuya, Kinoshita, Akira, Miyake, Noriko, Matsumoto, Naomichi, Niikawa, Norio
Published in Journal of human genetics (01.05.2009)
Published in Journal of human genetics (01.05.2009)
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Journal Article
A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR
KUBOTA, T, NONOYAMA, S, TONOKI, H, MASUNO, M, IMAIZUMI, K, KOJIMA, M, WAKUI, K, SHIMADZU, M, FUKUSHIMA, Y
Published in Human genetics (01.01.1999)
Published in Human genetics (01.01.1999)
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Journal Article
A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome
Yamamoto, Sayaka, Okuhara, Koji, Tonoki, Hidefumi, Iizuka, Susumu, Nihei, Noriko, Tajima, Toshihiro
Published in Clinical Pediatric Endocrinology (01.10.2013)
Published in Clinical Pediatric Endocrinology (01.10.2013)
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Journal Article
High frequency of p53 mutations in human oral epithelial dysplasia and primary squamous cell carcinoma detected by yeast functional assay
KASHIWAZAKI, H, TONOKI, H, TADA, M, CHIBA, I, SHINDOH, M, TOTSUKA, Y, IGGO, R, MORIUCHI, T
Published in Oncogene (27.11.1997)
Published in Oncogene (27.11.1997)
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Journal Article
Phenotype-genotype correlation in two patients with 12q proximal deletion
Miyake, Noriko, Tonoki, Hidefumi, Gallego, Marta, Harada, Naoki, Shimokawa, Osamu, Yoshiura, Koh-ichiro, Ohta, Tohru, Kishino, Tatsuya, Niikawa, Norio, Matsumoto, Naomichi
Published in Journal of human genetics (01.05.2004)
Published in Journal of human genetics (01.05.2004)
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Journal Article
A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome
Sayaka Yamamoto, Koji Okuhara, Hidefumi Tonoki, Susumu Iizuka, Noriko Nihei, Toshihiro Tajima
Published in Clinical Pediatric Endocrinology (01.10.2013)
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Published in Clinical Pediatric Endocrinology (01.10.2013)
Journal Article
Selective Eating in Autism Spectrum Disorder Leading to Kwashiorkor and Brain Edema
Maruo, Yuji, Egawa, Kiyoshi, Tonoki, Hidefumi, Terae, Satoshi, Ueda, Yuki, Shiraishi, Hideaki
Published in Pediatric neurology (01.03.2021)
Published in Pediatric neurology (01.03.2021)
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Journal Article
A Noonan-like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia
Chida-Nagai, Ayako, Tonoki, Hidefumi, Makita, Naomasa, Ishiyama, Hiroyuki, Ihara, Masafumi, Maruo, Yuji, Tsujioka, Takao, Sasaki, Daisuke, Izumi, Gaku, Yamazawa, Hirokuni, Kato, Nobuyasu, Ito, Masaki, Fujimura, Miki, Sasaki, Osamu, Takeda, Atsuhito
Published in American journal of medical genetics. Part A (01.12.2023)
Published in American journal of medical genetics. Part A (01.12.2023)
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Journal Article
Isolation of Differentiated Squamous and Undifferentiated Spindle Carcinoma Cell Lines with Differing Metastatic Potential from a 4‐Nitroquinoline N‐Oxide‐induced Tongue Carcinoma in a F344 Rat
Takeuchi, Shinichi, Nakanishi, Hayao, Yoshida, Kenji, Yamamoto, Shinji, Tonoki, Hidefumi, Tsukamoto, Takahisa, Fukushima, Shoji, Moriuchi, Tetsuya, Kurita, Kenichi, Tatematsu, Masae
Published in Cancer science (01.12.2000)
Published in Cancer science (01.12.2000)
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Journal Article
MLL2 and KDM6A mutations in patients with Kabuki syndrome
Miyake, Noriko, Koshimizu, Eriko, Okamoto, Nobuhiko, Mizuno, Seiji, Ogata, Tsutomu, Nagai, Toshiro, Kosho, Tomoki, Ohashi, Hirofumi, Kato, Mitsuhiro, Sasaki, Goro, Mabe, Hiroyo, Watanabe, Yoriko, Yoshino, Makoto, Matsuishi, Toyojiro, Takanashi, Jun-Ichi, Shotelersuk, Vorasuk, Tekin, Mustafa, Ochi, Nobuhiko, Kubota, Masaya, Ito, Naoko, Ihara, Kenji, Hara, Toshiro, Tonoki, Hidefumi, Ohta, Tohru, Saito, Kayoko, Matsuo, Mari, Urano, Mari, Enokizono, Takashi, Sato, Astushi, Tanaka, Hiroyuki, Ogawa, Atsushi, Fujita, Takako, Hiraki, Yoko, Kitanaka, Sachiko, Matsubara, Yoichi, Makita, Toshio, Taguri, Masataka, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Yoshiura, Ko-Ichiro, Matsumoto, Naomichi, Niikawa, Norio
Published in American journal of medical genetics. Part A (01.09.2013)
Published in American journal of medical genetics. Part A (01.09.2013)
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