Search Results - "Suzumura, H."

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations by Miyake, N., Tsurusaki, Y., Koshimizu, E., Okamoto, N., Kosho, T., Brown, N.J., Tan, T.Y., Yap, P.J.J., Suzumura, H., Tanaka, T., Nagai, T., Nakashima, M., Saitsu, H., Niikawa, N., Matsumoto, N.

“…Wiedemann–Steiner syndrome (WSS) is an autosomal dominant congenital anomaly syndrome characterized by hairy elbows, dysmorphic facial appearances…”
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Molecular genetic analysis of 30 families with Joubert syndrome by Suzuki, T., Miyake, N., Tsurusaki, Y., Okamoto, N., Alkindy, A., Inaba, A., Sato, M., Ito, S., Muramatsu, K., Kimura, S., Ieda, D., Saitoh, S., Hiyane, M., Suzumura, H., Yagyu, K., Shiraishi, H., Nakajima, M., Fueki, N., Habata, Y., Ueda, Y., Komatsu, Y., Yan, K., Shimoda, K., Shitara, Y., Mizuno, S., Ichinomiya, K., Sameshima, K., Tsuyusaki, Y., Kurosawa, K., Sakai, Y., Haginoya, K., Kobayashi, Y., Yoshizawa, C., Hisano, M., Nakashima, M., Saitsu, H., Takeda, S., Matsumoto, N.

“…Joubert syndrome (JS) is rare recessive disorders characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated…”
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Long-term survival of full trisomy 13 in a 14 year old male: a case report by Imataka, G, Hagisawa, S, Nitta, A, Hirabayashi, H, Suzumura, H, Arisaka, O

“…Long term survival for the cases of trisomy 13 into over a first decade is very rare. We reported here the case of a 14-year-old male karyotype with full type…”
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Effects of shift schedules on fatigue and physiological functions among firefighters during night duty by Takeyama, H, Itani, T, Tachi, N, Sakamura, O, Murata, K, Inoue, T, Takanishi, T, Suzumura, H, Niwa, S

“…To examine the effects of shift schedules on fatigue and physiological functions among firefighters a 17-day field study at a fire station was carried out…”
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Bimatoprost ophthalmic solution 0.03% lowered intraocular pressure of normal-tension glaucoma with minimal adverse events. [Corrigendum] by T, Tsumura, K, Yoshikawa, H, Suzumura, T, Kimura, S, Sasaki, I, Kimura, R, Takeda

“…Tsumura T, Yoshikawa K, Suzumura H, Kimura T, Sasaki S, Kimura I, Takeda R. Clinical Ophthalmology. 2012;6:1547–1552.On page 1549 the significant…”
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Treatment with mild brain hypothermia for cardiopulmonary resuscitation after myoclonic seizures in infant with robertsonian type of trisomy 13 by Imataka, G, Tsuboi, Y, Kano, Y, Ogino, K, Tsuchioka, T, Ohnishi, T, Kaji, Y, Wake, K, Ichikawa, G, Suzumura, H, Arisaka, O

“…Congenital chromosomal abnormality with trisomy 13 is known to be associated with poor life prognosis and lethal. Therefore, physician advice the patients be…”
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Diagnosis of sex chromosomal abnormalities in neonatal intensive care units by Imataka, G, Suzumura, H, Arisaka, O

“…Neonates are hospitalized in the neonatal intensive care unit for complications arising during delivery or for the treatment of congenital anomalies. Some…”
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Bimatoprost ophthalmic solution 0.03% lowered intraocularpressure of normal-tension glaucoma with minimal adverse events [Corrigendum] by Tsumura, Toyoaki, Suzumura, Hirotaka, Yoshikawa, Keiji, Kimura, Sasaki, Takeda

“…1547-1552. On page 1549 the significant difference in MD values was stated as in Table 1: −5.22 ± 4.07 It should have been: −5.47 ± 4.78Read the original…”
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Ring chromosome 8 with mosaic trisomy 8 syndrome in an infant by Imataka, G, Ishii, J, Tsukada, K, Suzumura, H, Arisaka, O

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Partial trisomy 3p and monosomy 5p diagnosed by spectral karyotyping (SKY) by Imataka, G, Tsuboi, T, Kuribayashi, R, Miyamoto, K, Ichikawa, G, Suzumura, H, Arisaka, O

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Weak shock waves in isotropic solids at finite temperatures up to the melting point by Currò, C., Sugiyama, M., Suzumura, H., Valenti, G.

“…Propagation speeds and Rankine-Hugoniot relations for weak shock waves in isotropic solids are derived analytically in order to elucidate mechanical and…”
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Haemostatic management of surgery for imperforate anus in a patient with 13q deletion syndrome with combined deficiency of factors VII and X by KUROSAWA, H., SUZUMURA, H., OKUYA, M., FUKUSHIMA, K., SUGITA, K., FUJIWARA, T., MORISHITA, E., YOSHIOKA, A., TAKAMIYA, O., ARISAKA, O.

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Survival of trisomy 18 cases in Japan by Imataka, G, Nitta, A, Suzumura, H, Watanabe, H, Yamanouchi, H, Arisaka, O

“…The prognosis of trisomy 18 is lethal, but recently some long-term survival cases have been recognized. We report here the mortality rate of trisomy 18 based…”
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Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant by Yamaguchi, K, Shimizu, K, Suzumura, H

“…This case report describes the neuropathological findings in an autopsy case of short rib-polydactyly syndrome (SRPS). The patient was a Japanese female…”
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Neonatal intractable atrial flutter successfully treated with intravenous flecainide by Suzumura, H, Nitta, A, Ono, M, Arisaka, O

“…We present a neonatal case with intractable atrial flutter that did not respond to digitalization and electrical cardioversion. Intravenous flecainide…”
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Cluster Formation for Analyses of Glaucomatous Visual Field Defects in Central 10-2 Visual Field in Normal Tension Glaucoma Eyes by Suzumura, Hirotaka, Yoshikawa, Keiji, Kimura, Tairo, Nanno, Mami, Tsumura, Toyoaki

“…To develop a cluster system to analyze the retinal sensitivity loss of 68 test points in the central 10 degrees of standard automated perimetry (SAP) in eyes…”
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Comparison of mortality and morbidity of very low birth weight infants between Canada and Japan by Isayama, Tetsuya, Lee, Shoo K, Mori, Rintaro, Kusuda, Satoshi, Fujimura, Masanori, Ye, Xiang Y, Shah, Prakesh S

“…To compare neonatal outcomes of very low birth weight (VLBW) infants admitted to NICUs participating in the Canadian Neonatal Network and the Neonatal Research…”
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Evaluation of adjunctive intracoronary administration of acetylcholine following intravenous infusion of ergonovine to provoke coronary artery spasm by Goto, A, Ito, S, Kondo, H, Nomura, Y, Yasue, N, Suzumura, H, Takeda, Y, Tomimoto, S, Yamada, Y, Horio, T, Suzuki, S, Fukutomi, T, Itoh, M

“…A dilemma arises in patients with chest pain or other symptoms suggestive of coronary artery disease but without significant coronary artery stenosis or spasm…”
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Relationship between visual field progression and baseline refraction in primary open-angle glaucoma by Naito T, Yoshikawa K, Mizoue S, Nanno M, Kimura T, Suzumura H, Umeda Y, Shiraga F

“…Tomoko Naito,1 Keiji Yoshikawa,2 Shiro Mizoue,3 Mami Nanno,4 Tairo Kimura,5 Hirotaka Suzumura,6 Yuzo Umeda,7 Fumio Shiraga1 1Department of Ophthalmology,…”
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Neonatal transient hypothyroidism by Arisaka, O, Nitta, A, Suzumura, H, Kuribayashi, T

“…Neonatal screening for congenital hypothyroidism can detect permanent and transient hypothyroidism. The latter condition is called neonatal transient…”
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