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2007年 | ![]() |
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●Sakamoto O‚ Ohura T‚ Matsubara Y‚ Takayanagi M‚ Tsuchiya S. Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. J Hum Genet. 52:48-55‚ 2007 ●Tokuhara D‚ Iijima M‚ Tamamori A‚ Ohura T‚ Takaya J‚ Maisawa S‚ Kobayashi K‚ Saheki T‚ Yamano T‚ Okano Y. Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes. Mol Genet Metab. 90:30-36‚ 2007 ●Tran VK‚ Takeshima Y‚ Zhang Z‚ Habara Y‚ Haginoya K‚ Nishiyama A‚ Yagi M‚ Matsuo M. A nonsense mutation-created intraexonic splice site is active in the lymphocytes‚ but not in the skeletal muscle of a DMD patient. Hum Genet. 120:737-742‚ 2007 ●de la Fuente MA‚ Sasahara Y‚ Calamito M‚ Anton IM‚ Elkhal A‚ Gallego MD‚ Suresh K‚ Siminovitch K‚ Ochs HD‚ Anderson KC‚ Rosen FS‚ Geha RS‚ Ramesh N. WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP). Proc Natl Acad Sci USA. 104:926-931‚ 2007 ●Minegishi M‚ Itoh T‚ Fukawa N‚ Kitaura T‚ Miura J‚ Takahashi H‚ Suzuki A‚ Kudo Y‚ Narita A‚ Sato Y‚ Suzuki M‚ Watanabe T‚ Wada Y‚ Takeyama Y‚ Tsuchiya S. Quality of Umbilical Cord Blood CD34+ Cells in a Double-Compartment Freezing Bag Cryopreserved without a Rate-Controlled Programmed Freezer. Int J Hematol. 85: 78-84‚ 2007 ●Nishino M‚ Morimoto T‚ Nishio T‚ Aslanova UF‚ Farajov EI‚ Kumagai N‚ Sugawara N‚ Takahashi S‚ Ohsaga A‚ Maruyama Y‚ Tsuchiya S‚ Kondo Y. Gestational Length Affects a Change in the Transepithelial Voltage and the rNKCC2 Expression Pattern in the Ascending Thin Limb of Henle's Loop. Pediatr Res. 61:171-175‚ 2007 ●Vyletal P‚ Sokolova J‚ Cooper DN‚ Kraus JP‚ Krawczak M‚ Pepe G‚ Rickards O‚ Koch HG‚ Linnebank M‚ Kluijtmans LA‚ Blom HJ‚ Boers GH‚ Gaustadnes M‚ Skovby F‚ Wilcken B‚ Wilcken DE‚ Andria G‚ Sebastio G‚ Naughten ER‚ Yap S‚ Ohura T‚ Pronicka E‚ Laszlo A‚ Kozich V. Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. Hum Mutat. 28:255-264‚ 2007 ●Kunishima S‚ Yoshinari M‚ Nishio H‚ Ida K‚ Miura T‚ Matsushita T‚ Hamaguchi M‚ Saito H. Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations. Eur J Haematol. 78:220-226‚ 2007 ●Saito A‚ Sugawara A‚ Uruno A‚ Kudo M‚ Kagechika H‚ Sato Y‚ Owada Y‚ Kondo H‚ Sato M‚ Kurabayashi M‚ Imaizumi M‚ Tsuchiya S‚ Ito S. All-trans Retinoic Acid Induces in Vitro Angiogenesis via Retinoic Acid Receptor: Possible Involvement of Paracrine Effects of Endogenous Vascular Endothelial Growth Factor Signaling. Endocrinology. 148:1412-1423‚ 2007 ●Nakamura Y‚ Ozaki T‚ Niizuma H‚ Ohira M‚ Kamijo T‚ Nakagawara A. Functional characterization of a new p53 mutant generated by homozygous deletion in a neuroblastoma cell line. Biochem Biophys Res Commun. 354:1892-898‚ 2007 ●Kakisaka Y‚ Haginoya K‚ Togashi N‚ Kitamiura T‚ Uematsu M‚ Hino-Fukuyo N‚ Kure S‚ Saito J‚ Kitaoka S‚ Watanabe S‚ Yoshikawa H‚ Nara T‚ Suzuki Y‚ Tsuchiya S. Neonatal-onset brainstem reticular reflex myoclonus following a prenatal brain insult: generalized myoclonic jerk and a brainstem lesion. Tohoku J Exp Med. 211:303-308‚ 2007 ●Kanno J‚ Hutchin T‚ Kamada F‚ Narisawa A‚ Aoki Y‚ Matsubara Y‚ Kure S. Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. J Med Genet. 44:e69‚ 2007 ●Narumi Y‚ Aoki Y‚ Niihori T‚ Neri G‚ Cave H‚ Verloes A‚ Nava C‚ Kavamura MI‚ Okamoto N‚ Kurosawa K‚ Hennekam RC‚ Wilson LC‚ Gillessen-Kaesbach G‚ Wieczorek D‚ Lapunzina P‚ Ohashi H‚ Makita Y‚ Kondo I‚ Tsuchiya S‚ Ito E‚ Sameshima K‚ Kato K‚ Kure S‚ Matsubara Y. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome. Am J Med Genet A. 143A:799-807‚ 2007 ●Ohura T‚ Kobayashi K‚ Tazawa Y‚ Abukawa D‚ Sakamoto O‚ Tsuchiya S‚ Saheki T. Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). J Inherit Metab Dis. 30:139-144‚ 2007 ●Munakata M‚ Watanabe M‚ Otsuki T‚ Nakama H‚ Arima K‚ Itoh M‚ Nabekura J‚ Iinuma K‚ Tsuchiya S. Altered Distribution of KCC2 in Cortical Dysplasia in Patients with Intractable Epilepsy. Epilepsia. 48:837-844‚ 2007 ●Koga S‚ Yamaguchi N‚ Abe T‚ Minegishi M‚ Tsuchiya S‚ Yamamoto M‚ Minegishi N. Cell-cycle-dependent oscillation of GATA2 expression in hematopoietic cells. Blood. 109:4200-4208‚ 2007 ●Yang SS‚ Morimoto T‚ Rai T‚ Chiga M‚ Sohara E‚ Ohno M‚ Uchida K‚ Lin SH‚ Moriguchi T‚ Shibuya H‚ Kondo Y‚ Sasaki S‚ Uchida S. Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model. Cell Metab. 5:331-344‚ 2007 ●Inoue CN‚ Chiba Y‚ Morimoto T‚ Nishio T‚ Kondo Y‚ Adachi M‚ Matsutani S. Tonsillectomy in the treatment of pediatric Henoch-Schonlein nephritis. Clin Nephrol. 67:298-305‚ 2007 ●Wang F‚ Zou Y‚ Tanaka M‚ Matsuda T‚ Chonan S. Unconstrained cardiorespiratory monitor for premature infants. Int J Appl Electrom. 25:469-475‚ 2007 ●Hayashi K‚ Osawa M‚ Aihara M‚ Izumi T‚ Ohtsuka Y‚ Haginoya K‚ Kato I‚ Kaneko K‚ Sugai K‚ Takahashi T‚ Hamano S‚ Matsukura M‚ Miura H‚ Minagawa K‚ Yamano T‚ Yamamoto H‚ Yamanouchi H‚ Yoshikawa H; Research Committee on Clinical Evidence of Medical Treatment for Status Epilepticus in Childhood. Efficacy of intravenous midazolam for status epilepticus in childhood. Pediatr Neurol. 36:366-372‚ 2007 ●van der Knaap MS‚ Linnankivi T‚ Paetau A‚ Feigenbaum A‚ Wakusawa K‚ Haginoya K‚ Kohler W‚ Henneke M‚ Dinopoulos A‚ Grattan-Smith P‚ Brockmann K‚ Schiffmann R‚ Blaser S. Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology. Neurology. 69:166-171‚ 2007 ●Tokunaga M‚ Miyamura K‚ Ohashi H‚ Ishiwada N‚ Terakura S‚ Ikeguchi M‚ Kuwatsuka Y‚ Inamoto Y‚ Oba T‚ Tsuchiya S‚ Kodera Y. Successful nonmyeloablative bone marrow transplantation for leukocyte adhesion deficiency type I from an unrelated donor. Int J Hematol. 86:91-95‚ 2007 ●Liu W‚ Morimoto T‚ Woda C‚ Kleyman TR‚ Satlin LM. Ca2+ dependence of flow-stimulated K secretion in the mammalian cortical collecting duct. Am J Physiol Renal Physiol. 293:F227-235‚ 2007 ●Kanno J‚ Kure S‚ Narisawa A‚ Kamada F‚ Takayanagi M‚ Yamamoto K‚ Hoshino H‚ Goto T‚ Takahashi T‚ Haginoya K‚ Tsuchiya S‚ Baumeister FA‚ Hasegawa Y‚ Aoki Y‚ Yamaguchi S‚ Matsubara Y. Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab. 61:384-389‚ 2007 ●Minegishi Y‚ Saito M‚ Tsuchiya S‚ Tsuge I‚ Takada H‚ Hara T‚ Kawamura N‚ Ariga T‚ Pasic S‚ Stojkovic O‚ Metin A‚ Karasuyama H. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 448:1058-1062‚ 2007 ●Wakusawa K‚ Sugiura M‚ Sassa Y‚ Jeong H‚ Horie K‚ Sato S‚ Yokoyama H‚ Tsuchiya S‚ Inuma K‚ Kawashima R. Comprehension of implicit meanings in social situations involving irony: A functional MRI study. Neuroimage. 37:1417-1426‚ 2007 ●Uematsu M‚ Sakamoto O‚ Sugawara N‚ Kumagai N‚ Morimoto T‚ Yamaguchi S‚ Hasegawa Y‚ Kobayashi H‚ Ihara K‚ Yoshino M‚ Watanabe Y‚ Inokuchi T‚ Yokoyama T‚ Kiwaki K‚ Nakamura K‚ Endo F‚ Tsuchiya S‚ Ohura T. Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. J Hum Genet. 52:1040-1043:2007 ●Watanabe T‚ Matsuda T‚ Hanita T‚ Okuyama K‚ Cho K‚ Kobayashi K‚ Kobayashi Y. Induction of Necrotizing Funisitis by Fetal Administration of Intravenous Granulocyte-Colony Stimulating Factor and Intra-Amniotic Endotoxin in Premature Fetal Sheep. Pediatr Res. 62:670-673‚ 2007 ●Wakusawa K‚ Uematsu M‚ Tsuchiya S‚ Haginoya K‚ Blau N. The cerebrospinal fluid level of 5-methylterahydrofolate in a Japanese boy with hypomyelination with atrophy of the Basal Ganglia and cerebellum. Tohoku J Exp Med. 213:373‚ 2007 ●Niizuma H‚ Fujii K‚ Sato A‚ Fujiwara I‚ Takeyama J‚ Imaizumi M. PTHrP-independent hypercalcemia with increased proinflammatory cytokines and bone resorption in two children with CD19-negative precursor B acute lymphoblastic leukemia. Pediatr Blood Cancer. 49:990-993‚ 2007 |
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●宗形光敏、北村太郎、萩野谷和裕、飯沼一宇 脳波・光トポグラフィー同時記録による乳児てんかん発作の動的解析 てんかん治療研究振興財団研究年報 18:95-100‚ 2007 ●大園秀一、石田也寸志、栗山貴久子、浅見恵子、松下竹次、前田美穂、有瀧健太郎、石井栄三郎、吉成みやこ、石本浩市、堀部敬三、日本小児白血病リンパ腫研究グループ(JPLSG)長期フォローアップ委員会 小児がん長期フォローアップ調査報告 日本小児科学会雑誌 111:1392-1398‚ 2007 ●岡野善行、大浦敏博、杉山成司、田中葉子、荘司裕、野口篤子、藤脇建久、小林弘典、青木菊麿 ビオプテリン反応性高フェニルアラニン血症5症例の長期治療経過と成績のまとめ 特殊ミルク情報 43:17-21‚ 2007 ●坂本修、菅原典子、植松貢、大浦敏博、土屋滋、長谷川有紀、小林弘典、山口清次 タンデムマスを用いた新生児マス・スクリーニングで発見された3-メチルクロトニルCoAカルボキシラーゼ(メチルクロトニルグリシン尿症)の一例 特殊ミルク情報 43:27-29‚ 2007 ●大浦敏博、坂本修、菅原恵、中山真紀、虻川大樹、三上仁 ビタミンB12不応性メチルマロン酸血症の食事療法 特殊ミルク情報 43:42-46‚ 2007 |
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●萩野谷和裕 てんかんの基礎疾患 原因と検査:最近の進歩 小児科診療 70:35-44‚ 2007 ●熊谷直憲、根東義明 小児ネフローゼ 炎症と免疫 15:258-261‚ 2007 ●横山浩之 Q62.小児科医はどのように学校と連携していけばよいのでしょうか? 小児内科 39:365-367‚ 2007 ●加藤晴一 Helicobacter pylori感染症の診断、治療および管理指針(2005年改定版) 小児内科 39:475-479‚ 2007 ●吉成みやこ 告知から始まる援助 小児腫瘍科の医師が語る告知 そだちと臨床 2:32-35‚ 2007 ●渡辺達也、松田直 呼吸窮迫症候群 Neonatal Care 秋季増刊163-169‚ 2007 ●坂本修、大浦敏博 NICCD -シトリン欠損による新生児肝内胆汁うっ滞症 周産期医学 37:1346-1350‚ 2007 ●涌澤圭介、土屋滋、川島隆太 Functional MRIとはどのようなものですか。何がわかるのですか。 小児内科 39 増刊(小児中枢神経疾患の画像診断2008):116-121‚ 2007 ●萩野谷和裕 全般性てんかん 小児内科 39 増刊(小児中枢神経疾患の画像診断2008):628-632‚ 2007 ●坂本修 先天代謝異常症 臨床検査 51 増刊(遺伝子検査):1449-1452‚ 2007 ●吉成みやこ、土屋滋 臨床検体研究と倫理 小児外科 39:1272-1276‚ 2007 ●菅野潤子、呉繁夫、青木洋子、松原洋一 Multiplex ligation-dependent probe amplification (MLPA)法:非ケトーシス型高グリシン血症の遺伝子診断への応用 日本マス・スクリーニング学会誌 17(3):9-17‚ 2007 ●笹原洋二 WASP interacting protein (WIP)の役割 臨床免疫・アレルギー科 48:464-470‚ 2007 ●笹原洋二、土屋滋 Wiskott-Aldrich症候群の分子病態におけるWIPの役割 日本小児血液学会雑誌 21:217-226‚ 2007 |
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●松田直 (佐藤和雄 監修) 「早産 最近の知見と取り扱い」 早産の基礎知識 臍帯炎 メジカルビュー社 ●Niizuma H‚ Nakagawara A (Gupta DK‚ Carachi R eds) 「Pediatric Oncology (Surgical and Medical Aspects)」 Genetics and Molecular Biology of Pediatric Tumors Jaypee Brothers Medical Publishers ●藤原幾磨 (飯沼一宇、有坂治、竹村司、渡辺博 編集) 「小児科学・新生児学テキスト 全面改訂第5版」 骨・関節疾患、外傷 診断と治療社 ●太田英伸(石田直理雄 編集) 「きちんと分かる時計遺伝子」 赤ちゃんの睡眠・発達と保育環境 白日社 |
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●渡辺達也:日本未熟児新生児学会賞 胎盤病理と臨床像からみた新生児慢性肺疾患病型分類の再検討 日本未熟児新生児学会雑誌 18:72-78‚ 2007 |