Open isthmus and lambda (Λ) sign of early Joubert syndrome: elucidating development of molar tooth sign
Pooh, R K, Takeda, M, Itoh, K, Yoshimatsu, J, Ogo, K, Machida, M, Ohashi, H, Shimokawa, O
Published in Ultrasound in obstetrics & gynecology (20.04.2024)
Published in Ultrasound in obstetrics & gynecology (20.04.2024)
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VP28.06: Which fetuses are indicated for prenatal‐targeted exome sequencing testing? Increased NT or structural anomalies?
Pooh, R.K., Takeda, M., Matsuzawa, N., Nakamura, T., Chiyo, H., Ohashi, H., Shimokawa, O.
Published in Ultrasound in obstetrics & gynecology (01.10.2021)
Published in Ultrasound in obstetrics & gynecology (01.10.2021)
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Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome
Sasaki, K, Okamoto, N, Kosaki, K, Yorifuji, T, Shimokawa, O, Mishima, H, Yoshiura, K-i, Harada, N
Published in Clinical genetics (01.11.2011)
Published in Clinical genetics (01.11.2011)
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Rebamipide attenuates nonsteroidal anti-inflammatory drugs (NSAID) induced lipid peroxidation by the manganese superoxide dismutase (MnSOD) overexpression in gastrointestinal epithelial cells
Nagano, Y, Matsui, H, Shimokawa, O, Hirayama, A, Tamura, M, Nakamura, Y, Kaneko, T, Rai, K, Indo, H P, Majima, H J, Hyodo, I
Published in Journal of physiology and pharmacology : an official journal of the Polish Physiological Society (01.04.2012)
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Published in Journal of physiology and pharmacology : an official journal of the Polish Physiological Society (01.04.2012)
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Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions
Visser, R, Shimokawa, O, Harada, N, Niikawa, N, Matsumoto, N
Published in Journal of medical genetics (01.11.2005)
Published in Journal of medical genetics (01.11.2005)
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Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation
Harada, N, Hatchwell, E, Okamoto, N, Tsukahara, M, Kurosawa, K, Kawame, H, Kondoh, T, Ohashi, H, Tsukino, R, Kondoh, Y, Shimokawa, O, Ida, T, Nagai, T, Fukushima, Y, Yoshiura, K, Niikawa, N, Matsumoto, N
Published in Journal of medical genetics (01.02.2004)
Published in Journal of medical genetics (01.02.2004)
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Identification of eight novel NSD1 mutations in Sotos syndrome
Kamimura, J, Endo, Y, Kurotaki, N, Kinoshita, A, Miyake, N, Shimokawa, O, Harada, N, Visser, R, Ohashi, H, Miyakawa, K, Gerritsen, J, Innes, A M, Lagace, L, Frydman, M, Okamoto, N, Puttinger, R, Raskin, S, Resic, B, Culic, V, Yoshiura, K, Ohta, T, Kishino, T, Ishikawa, M, Niikawa, N, Matsumoto, N
Published in Journal of medical genetics (01.11.2003)
Published in Journal of medical genetics (01.11.2003)
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A 4q21-q22 deletion in a girl with severe growth retardation
Harada, N, Nagai, T, Shimokawa, O, Niikawa, N, Matsumoto, N
Published in Clinical genetics (01.03.2002)
Published in Clinical genetics (01.03.2002)
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A 4-Mb critical region for intrauterine growth retardation at 15q26
Harada, N, Shimokawa, O, Nagai, T, Kato, R, Kondoh, T, Niikawa, N, Matsumoto, N
Published in Clinical genetics (01.10.2002)
Published in Clinical genetics (01.10.2002)
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Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome
Batkovskyte, Dominyka, Komatsu, Maya, Hammarsjö, Anna, Pooh, Ritsuko, Shimokawa, Osamu, Ikegawa, Shiro, Grigelioniene, Giedre, Nishimura, Gen, Yamada, Takahiro
Published in Clinical genetics (01.01.2024)
Published in Clinical genetics (01.01.2024)
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A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
Okamoto, Nobuhiko, Toribe, Yasuhisa, Nakajima, Tohru, Okinaga, Takeshi, Kurosawa, Kenji, Nonaka, Ikuya, Shimokawa, Osamu, Matsumoto, Noamichi
Published in Journal of human genetics (01.10.2002)
Published in Journal of human genetics (01.10.2002)
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Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion
Visser, Remco, Shimokawa, Osamu, Harada, Naoki, Kinoshita, Akira, Ohta, Tohru, Niikawa, Norio, Matsumoto, Naomichi
Published in American journal of human genetics (01.01.2005)
Published in American journal of human genetics (01.01.2005)
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Mechanisms involved in δ-aminolevulinic acid (ALA)-induced photosensitivity of tumor cells: Relation of ferrochelatase and uptake of ALA to the accumulation of protoporphyrin
Ohgari, Yoshiko, Nakayasu, Yuki, Kitajima, Sakihito, Sawamoto, Mari, Mori, Hajime, Shimokawa, Osamu, Matsui, Hirofumi, Taketani, Shigeru
Published in Biochemical pharmacology (19.12.2005)
Published in Biochemical pharmacology (19.12.2005)
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Rebamipide significantly inhibits indomethacin-induced mitochondrial damage, lipid peroxidation, and apoptosis in gastric epithelial RGM-1 cells
Nagano, Yumiko, Matsui, Hirofumi, Muramatsu, Mutsumi, Shimokawa, Osamu, Shibahara, Takeshi, Yanaka, Akinori, Nakahara, Akira, Matsuzaki, Yasushi, Tanaka, Naomi, Nakamura, Yukio
Published in Digestive diseases and sciences (01.10.2005)
Published in Digestive diseases and sciences (01.10.2005)
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Journal Article
Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion
Kurotaki, Naohiro, Harada, Naoki, Shimokawa, Osamu, Miyake, Noriko, Kawame, Hiroshi, Uetake, Kimiaki, Makita, Yoshio, Kondoh, Tatsuro, Ogata, Tsutomu, Hasegawa, Tomoko, Nagai, Toshiro, Ozaki, Takao, Touyama, Mayumi, Shenhav, Ruthie, Ohashi, Hirofumi, Medne, Livija, Shiihara, Takashi, Ohtsu, Shigeyuki, Kato, Zen-ichiro, Okamoto, Nobuhiko, Nishimoto, Junji, Lev, Dorit, Miyoshi, Yoko, Ishikiriyama, Satoshi, Sonoda, Tohru, Sakazume, Satoru, Fukushima, Yoshimitsu, Kurosawa, Kenji, Cheng, Jan-Fang, Yoshiura, Koh-ichiro, Ohta, Tohru, Kishino, Tatsuya, Niikawa, Norio, Matsumoto, Naomichi
Published in Human mutation (01.11.2003)
Published in Human mutation (01.11.2003)
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Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia
Shimokawa, Osamu, Miyake, Noriko, Yoshimura, Takazumi, Sosonkina, Nadiya, Harada, Naoki, Mizuguchi, Takeshi, Kondoh, Shinji, Kishino, Tatsuya, Ohta, Tohru, Remco, Visser, Takashima, Takeshi, Kinoshita, Akira, Yoshiura, Koichiro, Niikawa, Norio, Matsumoto, Naomichi
Published in American journal of medical genetics. Part A (01.07.2005)
Published in American journal of medical genetics. Part A (01.07.2005)
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