Search Results - "Torii, C."

Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders by Okamoto, N., Miya, F., Tsunoda, T., Kato, M., Saitoh, S., Yamasaki, M., Shimizu, A., Torii, C., Kanemura, Y., Kosaki, K.

“…We developed a next‐generation sequencing (NGS) based mutation screening strategy for neurodevelopmental diseases. Using this system, we screened 284 genes in…”
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Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2 : possible involvement of non-genetic or epigenetic regulation by Suda, N, Hamada, T, Hattori, M, Torii, C, Kosaki, K, Moriyama, K

“…Structured Authors –  Suda N, Hamada T, Hattori M, Torii C, Kosaki K, Moriyama K Introduction –  Cleidocranial dysplasia (CCD, MIM #119600) is an…”
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The Nobeyama radioheliograph by Nakajima, H., Kawashima, S., Shinohara, N., Irimajiri, Y., Koshiishi, H., Kosugi, T., Shiomi, Y., Sawa, M., Kai, K., Nishio, M., Enome, S., Shibasaki, K., Takano, T., Hanaoka, Y., Torii, C., Sekiguchi, H., Bushimata, T.

“…A new 17-GHz radio interferometer dedicated for solar observations was constructed in two years at Nobeyama, Nagano. It consists of eighty-four 80-cm-diameter…”
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Juvenile Muscular Atrophy of a Unilateral Upper Extremity (Hirayama Disease) in a Patient with CHARGE Syndrome by Yagihashi, T., Hatori, K., Ishii, K., Torii, C., Momoshima, S., Takahashi, T., Kosaki, K.

“…CHARGE syndrome is an autosomal dominant congenital anomaly syndrome, and the causative gene is CHD7. We report a patient with a CHD7 mutation who presented…”
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Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation by Ohnuki, Y., Torii, C., Kosaki, R., Yagihashi, T., Sago, H., Hayashi, K., Yasukawa, K., Takahashi, T., Kosaki, K.

“…Cri-du-chat syndrome is caused by haploinsufficiency of the genes on the distal part of the short arm of chromosome 5, and characteristic features include…”
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Thermal and nonthermal flare emission observed with the Nobeyama Radio Heliograph by Shibasaki, K., Takano, T., Enome, S., Nakajima, H., Nishio, M., Hanaoka, Y., Torii, C., Sekiguchi, H., Bushimata, T., Kawashima, S., Shinohara, N., Koshiishi, H., Shiomi, Y.

“…The early phases of three flares, observed by the Nobeyama Radio Heliograph, are studied. Nonthermal and thermal radio sources are identified by comparison…”
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Effects of methylenetetrahydrofolate reductase and reduced folate carrier 1 polymorphisms on high-dose methotrexate-induced toxicities in children with acute lymphoblastic leukemia or lymphoma by Shimasaki, Noriko, Mori, Tetsuya, Samejima, Hazuki, Sato, Reiko, Shimada, Hiroyuki, Yahagi, Naohisa, Torii, Chiharu, Yoshihara, Hiroki, Tanigawara, Yusuke, Takahashi, Takao, Kosaki, Kenjiro

“…The authors investigated whether high-dose methotrexate-induced toxicity differed according to the presence of methylenetetrahydrofolate reductase (MTHFR) or…”
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Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay by Hattori, Mitsu, Torii, Chiharu, Yagihashi, Tatsuhiko, Izumi, Kosuke, Suda, Naoto, Ohyama, Kimie, Takahashi, Takao, Moriyama, Keiji, Kosaki, Kenjiro

“…Russell-Silver syndrome (RSS) is characterized by prenatal and postnatal growth retardation, triangular facies, and fifth-finger clinodactyly. Half of all…”
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Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements by Udaka, Toru, Imoto, Issei, Aizu, Yoshinori, Torii, Chiharu, Izumi, Kosuke, Kosaki, Rika, Takahashi, Takao, Hayashi, Shin, Inazawa, Johji, Kosaki, Kenjiro

“…In idiopathic or nonspecific mental retardation, the overall rate of cryptic subtelomeric rearrangements is estimated to be about 5%. Development of…”
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Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography by Samejima, Hazuki, Torii, Chiharu, Kosaki, Rika, Kurosawa, Kenji, Yoshihashi, Hiroshi, Muroya, Koji, Okamoto, Nobuhiko, Watanabe, Yoriko, Kosho, Tomoki, Kubota, Michiru, Matsuda, Osamu, Goto, Miwa, Izumi, Kosuke, Takahashi, Takao, Kosaki, Kenjiro

“…Mutations in the JAG1 gene and the NOTCH2 gene cause Alagille syndrome. At present, however, genetic testing of Alagille syndrome is not commonly applied in…”
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Evidence for the existence of pulses of dopamine in the extracellular space of the rat striatum by Agnati, L F, Zoli, M, Ferrari, R, Di Paola, L, Torri, C, Fuxe, K, Zini, I

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Thermal and nonthermal flare emission observed with the Nobeyama radio heliograph: Fragmented energy release in sun and stars by SHIBASAKI, K, TAKANO, T, SHINOHARA, N, KOSHIISHI, H, SHIOMI, Y, ENOME, S, NAKAJIMA, H, NISHIO, M, HANAOKA, Y, TORII, C, SEKIGUCHI, H, BUSHIMATA, T, KAWASHIMA, S

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The Nobeyama Radioheliograph: Radio Telescopes by NAKAJIMA, H, NISHIO, M, SHINOHARA, N, IRIMAJIRI, Y, KOSHIISHI, H, KOSUGI, T, SHIOMI, Y, SAWA, M, KAI, K, ENOME, S, SHIBASAKI, K, TAKANO, T, HANAOKA, Y, TORII, C, SEKIGUCHI, H, BUSHIMATA, T, KAWASHIMA, S

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Juvenile Muscular Atrophy of a Unilateral Upper Extremity (Hirayama Disease) in a Patient with CHARGE Syndrome by Yagihashi, T, Hatori, K, Ishii, K, Torii, C, Momoshima, S, Takahashi, T, Kosaki, K

“…CHARGE syndrome is an autosomal dominant congenital anomaly syndrome, and the causative gene is CHD7. We report a patient with a CHD7 mutation who presented…”
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Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation by Ohnuki, Y, Torii, C, Kosaki, R, Yagihashi, T, Sago, H, Hayashi, K, Yasukawa, K, Takahashi, T, Kosaki, K

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Comprehensive screening of the thiopurine methyltransferase polymorphisms by denaturing high-performance liquid chromatography by Udaka, Toru, Torii, Chiharu, Takahashi, Daisuke, Mori, Tetsuya, Aramaki, Michihiko, Kosaki, Rika, Tanigawara, Yusuke, Takahashi, Takao, Kosaki, Kenjiro

“…The drug-metabolizing enzyme thiopurine S-methyltransferase (TPMT) catalyzes the S-methylation of thiopurines such as 6-mercaptopurine, 6-thioguanine, and…”
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