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2023
【1月】
Aihara Y‚ Shirota M‚ Kikuchi A‚ Katata Y‚ Abe Y‚ Niihori T‚ Funayama R‚ Nakayama K‚ Aoki Y‚ Kure S.
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.
J Hum Genet. 68:51-54‚ 2023
Tatsuta N‚ Asato K‚ Anai A‚ Suzuki T‚ Sakurai K‚ Ota C‚ Arima T‚ Sugawara J‚ Yaegashi N‚ Nakai K; Japan Environment and Children's Study Group.
Timing of Maternal Smoking Cessation and Newborn Weight‚ Height‚ and Head Circumference.
Obstet Gynecol. 141:119-125‚ 2023
【2月】
Okada H‚ Irie W‚ Sugahara A‚ Nagoya Y‚ Saito M‚ Sasahara Y‚ Yoshimoto Y‚ Iwasaki F‚ Inoue M‚ Sato M‚ Ozawa M‚ Kusuki S‚ Kamizono J‚ Ishida Y‚ Suzuki R‚ Nakajima-Yamaguchi R‚ Shiwaku H.
Factors associated with employment status among mothers of survivors of childhood cancer: a cross-sectional study.
Support Care Cancer. 31:168‚ 2023
Tarui T‚ Madan N‚ Graham G‚ Kitano R‚ Akiyama S‚ Takeoka E‚ Reid S‚ Yun HJ‚ Craig A‚ Samura O‚ Grant E‚ Im K.
Comprehensive quantitative analyses of fetal magnetic resonance imaging in isolated cerebral ventriculomegaly.
Neuroimage Clin. 37:103357‚ 2023
【3月】
Takase M‚ Yamada M‚ Nakamura T‚ Nakaya N‚ Kogure M‚ Hatanaka R‚ Nakaya K‚ Chiba I‚ Kanno I‚ Nochioka K‚ Tsuchiya N‚ Hirata T‚ Hamanaka Y‚ Sugawara J‚ Kobayashi T‚ Fuse N‚ Uruno A‚ Kodama EN‚ Kuriyama S‚ Tsuji I‚ Hozawa A.
Association between lung function and hypertension and home hypertension in a Japanese population: the Tohoku Medical Megabank Community-Based Cohort Study.
J Hypertens. 41:443-452‚ 2023
Takase M‚ Nakamura T‚ Nakaya N‚ Kogure M‚ Hatanaka R‚ Nakaya K‚ Kanno I‚ Nochioka K‚ Tsuchiya N‚ Hirata T‚ Hamanaka Y‚ Sugawara J‚ Suzuki K‚ Fuse N‚ Uruno A‚ N Kodama E‚ Kuriyama S‚ Tsuji I‚ Kure S‚ Hozawa A.
Associations between the Combined Fat Mass Index and Fat-Free Mass Index with Carotid Intima-Media Thickness in a Japanese Population: The Tohoku Medical Megabank Community-Based Cohort Study.
J Atheroscler Thromb. 30:255-273‚ 2023
Sai M‚ Niizuma H‚ Yagi K‚ Nakano T‚ Katayama S‚ Himori N‚ Irie M‚ Sasahara Y.
Comprehensive genomic profiling suggested multifocal development of retinoblastoma in a single eye.
Pediatr Blood Cancer. 70(3):e30031‚ 2023
Shirota H‚ Komine K‚ Takahashi M‚ Takahashi S‚ Miyauchi E‚ Niizuma H‚ Tada H‚ Shimada M‚ Niihori T‚ Aoki Y‚ Sugiyama I‚ Kawamura M‚ Yasuda J‚ Suzuki S‚ Iwaya T‚ Saito M‚ Saito T‚ Shibata H‚ Furukawa T‚ Ishioka C.
Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study.
Cancer Med. 12:6170-6181‚ 2023
Takahashi I‚ Obara T‚ Kikuchi S‚ Kobayashi M‚ Ishikuro M‚ Murakami K‚ Ueno F‚ Noda A‚ Onuma T‚ Matsuzaki F‚ Kobayashi N‚ Hamada H‚ Iwama N‚ Saito M‚ Sugawara J‚ Tomita H‚ Kure S‚ Yaegashi N‚ Kuriyama S.
Association between maternal psychological distress and children's neurodevelopment in offspring aged 4 years in Japan: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study.
J Paediatr Child Health. 59:548-554‚ 2023
Wada Y‚ Totsune E‚ Mikami-Saito Y‚ Kikuchi A‚ Miyata T‚ Kure S.
A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system.
Mol Genet Metab Rep. 35:100970‚ 2023
【4月】
Tanimura K‚ Nakajima M‚ Shirakawa N‚ Tao K‚ Sugiyama M‚ Watanabe Y‚ Arakawa A‚ Kikuchi M‚ Takahashi M‚ Narita Y‚ Shiotsuka M‚ Kobayashi O‚ Iwata S‚ Yoshida A‚ Abe M‚ Yamagoe S‚ Miyazaki Y‚ Ogawa C.
Surgical site infection caused by Rhizopus caespitosus after metastasectomy for osteosarcoma: First report of infection in humans.
Pediatr Blood Cancer. 70(4):e30049‚ 2023
Akiyama M‚ Akiyama T‚ Saigusa D‚ Hishinuma E‚ Matsukawa N‚ Shibata T‚ Tsuchiya H‚ Mori A‚ Fujii Y‚ Mogami Y‚ Tokorodani C‚ Kuwahara K‚ Numata-Uematsu Y‚ Inoue K‚ Kobayashi K.
Comprehensive study of metabolic changes induced by a ketogenic diet therapy using GC/MS- and LC/MS-based metabolomics.
Seizure. 107:52-59‚ 2023
【5月】
Sai M‚ Moriya K‚ Kaino A‚ Suzuki T‚ Katayama S‚ Aoki H‚ Sasahara Y.
Stage M Infantile Neuroblastoma With Involvement of Falx Cerebri: Case Report and Literature Review.
J Pediatr Hematol Oncol. 45:220-222‚ 2023
Numata-Uematasu Y‚ Wakatsuki S‚ Kobayashi-Ujiie Y‚ Sakai K‚ Ichinohe N‚ Araki T.
In vitro myelination using explant culture of dorsal root ganglia: An efficient tool for analyzing peripheral nerve differentiation and disease modeling.
PLoS One. 18(5):e0285897‚ 2023
Kobayashi T‚ Fujishima F‚ Tokodai K‚ Sato C‚ Kamei T‚ Miyake N‚ Matsumoto N‚ Kosho T.
Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS- CHST14).
Genes (Basel). 14:1079‚ 2023
Shishido Y‚ Nakamura H‚ Nakagawa T‚ Kanou S‚ Ito T‚ Kuwana S‚ Ota C.
Incidental Hyperferritinemia in Very Young Infants with Mild Symptoms of COVID-19 Disease.
Children (Basel). 10:874‚ 2023
Fukae J‚ Eguchi H‚ Wada Y‚ Fuse A‚ Chishima R‚ Nakatani M‚ Nakajima A‚ Hattori N‚ Shimo Y.
Case report: Young-onset large vessel ischemic stroke due to hyperhomocysteinemia associated with the C677T polymorphism on 5‚10-methylenetetrahydrofolate reductase and multi-vitamin deficiency.
Front Neurol. 14:1183306‚ 2023
【6月】
Kawamura M‚ Shirota H‚ Niihori T‚ Komine K‚ Takahashi M‚ Takahashi S‚ Miyauchi E‚ Niizuma H‚ Kikuchi A‚ Tada H‚ Shimada M‚ Kawamorita N‚ Kanamori M‚ Sugiyama I‚ Tsubata M‚ Ichikawa H‚ Yasuda J‚ Furukawa T‚ Aoki Y‚ Ishioka C.
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility.
J Hum Genet. 68:399-408‚ 2023
【7月】
Sato S‚ Watanabe S‚ Saito Y‚ Takanashi A‚ Ikeda H‚ Sakurai Y‚ Koshinami S‚ Kumagai Y‚ Usuda H‚ Hanita T‚ Kikuchi A‚ Saito M.
High Expression of Adrenal Cortisol Synthases Is Acquired After Intrauterine Inflammation in Periviable Sheep Fetuses.
J Endocr Soc. 7(9):bvad100‚ 2023
Kakisaka Y‚ Ota C‚ Kameoka JI.
Combination of Lectures for Case-report Writing and Advances in Internet Technology May Be a Possible Solution for "Encouraging Students and Trainees to Write".
JMA J. 6:360-361‚ 2023
【8月】
Kaino A‚ Niizuma H‚ Katayama S‚ Irie M‚ Nakano T‚ Sato D‚ Saito T‚ Kato S‚ Suehara Y‚ Sasahara Y‚ Kikuchi A.
Two-year crizotinib monotherapy induced durable complete response of pediatric ALK-positive inflammatory myofibroblastic tumor.
Pediatr Blood Cancer. 70(8):e30330‚ 2023
Takase M‚ Yamada M‚ Nakamura T‚ Nakaya N‚ Kogure M‚ Hatanaka R‚ Nakaya K‚ Kanno I‚ Nochioka K‚ Tsuchiya N‚ Hirata T‚ Hamanaka Y‚ Sugawara J‚ Kobayashi T‚ Fuse N‚ Uruno A‚ Kodama EN‚ Kuriyama S‚ Tsuji I‚ Hozawa A.
The Association of Lung Function and Carotid Intima-Media Thickness in a Japanese Population: The Tohoku Medical Megabank Community-Based Cohort Study.
J Atheroscler Thromb. 30:1022-1044‚ 2023
Kuroda Y‚ Matsufuji M‚ Enomoto Y‚ Osaka H‚ Takanashi JI‚ Yamamoto T‚ Numata-Uematsu Y‚ Tabata K‚ Kurosawa K‚ Inoue K.
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
Am J Med Genet A. 191:2245-2248‚ 2023
Usuda H‚ Ikeda H‚ Watanabe S‚ Sato S‚ Fee EL‚ Carter SWD‚ Kumagai Y‚ Saito Y‚ Takahashi T‚ Takahashi Y‚ Kawamura S‚ Hanita T‚ Saito M‚ Kikuchi A‚ Choolani MA‚ Yaegashi N‚ Kemp MW.
Artificial placenta support of extremely preterm ovine fetuses at the border of viability for up to 336 hours with maintenance of systemic circulation but reduced somatic and organ growth.
Front Physiol. 14:1219185‚ 2023
【9月】
Uneoka S‚ Kobayashi T‚ Numata-Uematsu Y‚ Oikawa Y‚ Katata Y‚ Okubo Y‚ Abe Y‚ Kikuchi A‚ Takayama J‚ Tamiya G‚ Kure S‚ Saito K‚ Uematsu M.
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.
Pediatr Neurol. 146:16-20‚ 2023
Chida-Nagai A‚ Masaki N‚ Maeda K‚ Sasaki K‚ Sato H‚ Muneuchi J‚ Ochiai Y‚ Murayama H‚ Tahara M‚ Shiono A‚ Shinozuka A‚ Kono F‚ Machida D‚ Toyooka S‚ Sugimoto S‚ Nakamura K‚ Akagi S‚ Kondo M‚ Kasahara S‚ Kotani Y‚ Koizumi J‚ Oda K‚ Harada M‚ Nakajima D‚ Murata A‚ Nagata H‚ Yatsunami K‚ Kobayashi T‚ Matsunaga Y‚ Inoue T‚ Yamagishi H‚ Nakagawa N‚ Ohtani K‚ Yamamoto M‚ Ito Y‚ Hokosaki T‚ Kuwahara Y‚ Masutani S‚ Nomura K‚ Wada T‚ Sawada H‚ Abiko M‚ Takahashi T‚ Ishikawa Y‚ Okada S‚ Naitoh A‚ Toda T‚ Ando T‚ Masuzawa A‚ Hoshino S‚ Kawada M‚ Nomura Y‚ Ueno K‚ Ohashi N‚ Tachibana T‚ Cao Y‚ Ueda H‚ Yanagi S‚ Koide M‚ Mitsushita N‚ Higashi K‚ Minosaki Y‚ Hayashi T‚ Okamoto T‚ Kuraishi K‚ Ehara E‚ Ishida H‚ Horigome H‚ Murakami T‚ Takei K‚ Ishii T‚ Harada G‚ Hirata Y‚ Maeda J‚ Tatebe S‚ Ota C‚ Hayabuchi Y‚ Sakazaki H‚ Sasaki T‚ Hirono K‚ Suzuki S‚ Yasuda M‚ Takeda A‚ Sawai M‚ Miyaji K‚ Kitagawa A‚ Nakai Y‚ Kakimoto N‚ Agematsu K‚ Manabe A‚ Saiki Y.
Use of the index of pulmonary vascular disease for predicting long-term outcome of pulmonary arterial hypertension associated with congenital heart disease.
Front Cardiovasc Med. 2023 Sep 4:10:1212882. doi: 10.3389/fcvm.2023.1212882. eCollection 2023.
Anai A‚ Asato K‚ Tatsuta N‚ Sakurai K‚ Ota C‚ Kuriyama S‚ Sugawara J‚ Arima T‚ Yaegashi N‚ Nakai K; Japan Environment and Children’s Study Group.
Factors associated with postpartum smoking relapse at early postpartum period of Japanese women in the Japan Environmental and Children's Study.
Environ Health Prev Med. 2023:28:56.doi: 10.1265/ehpm.23-00059.
【10月】
Takase M‚ Nakaya N‚ Nakamura T‚ Kogure M‚ Hatanaka R‚ Nakaya K‚ Chiba I‚ Kanno I‚ Nochioka K‚ Tsuchiya N‚ Hirata T‚ Hamanaka Y‚ Sugawara J‚ Kobayashi T‚ Fuse N‚ Uruno A‚ Kodama EN‚ Kuriyama S‚ Tsuji I‚ Hozawa A.
Carotid Intima Media Thickness and Risk Factor for Atherosclerosis: Tohoku Medical Megabank Community-Based Cohort Study.
J Atheroscler Thromb. 30:1471-1482‚ 2023
Okubo Y‚ Shibuya M‚ Nakamura H‚ Kawashima A‚ Kodama K‚ Endo W‚ Inui T‚ Togashi N‚ Aihara Y‚ Shirota M‚ Funayama R‚ Niihori T‚ Fujita A‚ Nakayama K‚ Aoki Y‚ Matsumoto N‚ Kure S‚ Kikuchi A‚ Haginoya K.
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Brain Dev. 45:505-511‚ 2023
Aoki K‚ Ota C‚ Kakisaka Y.
Exploring the efficacy of an educational approach of case-writing for remote learners: insights from a novice writer.
Rural Remote Health. 23:8527‚ 2023
Dodo M‚ Ota C‚ Ishikawa M‚ Koseki I‚ Sugawara J‚ Tatsuta N‚ Arima T‚ Yaegashi N‚ Koseki T.
Timing of Primary Tooth Eruption in Infants Observed by Their Parents.
Children (Basel). 10:1730‚ 2023
【11月】
Inoue T‚ Watabe D‚ Akasaka K‚ Sasaki T‚ Sasahara Y‚ Amano H.
Refractory atopic dermatitis in a child with hypomorphic mutation in XIAP gene and low serum IgG.
J Dermatol. 50(11):e363-e365‚ 2023
Kumagai Y‚ Kemp MW‚ Usuda H‚ Takahashi T‚ Takahashi Y‚ Hamada H‚ Schmidt AF‚ Hanita T‚ Watanabe S‚ Sato S‚ Ikeda H‚ Fee EL‚ Furfaro L‚ Newnham JP‚ Jobe AH‚ Yaegashi N‚ Saito M.
A Reduction in Antenatal Steroid Dose Was Associated with Reduced Cardiac Dysfunction in a Sheep Model of Pregnancy.
Reprod Sci. 30:3222-3234‚ 2023
【12月】
Hatanaka R‚ Nakaya N‚ Kogure M‚ Nakaya K‚ Chiba I‚ Kanno I‚ Hashimoto H‚ Nakamura T‚ Nochioka K‚ Obara T‚ Hamanaka Y‚ Sugawara J‚ Kobayashi T‚ Uruno A‚ Kodama EN‚ Fuse N‚ Kuriyama S‚ Hozawa A.
The risk of withdrawal from hypertension treatment in coastal areas after the Great East Japan Earthquake: the TMM CommCohort Study.
Hypertens Res. 46:2718-2728‚ 2023

【Online ahead of print】
Takase M‚ Yamada M‚ Nakamura T‚ Nakaya N‚ Kogure M‚ Hatanaka R‚ Nakaya K‚ Chiba I‚ Kanno I‚ Nochioka K‚ Tsuchiya N‚ Hirata T‚ Hamanaka Y‚ Sugawara J‚ Kobayashi T‚ Fuse N‚ Uruno A‚ Kodama EN‚ Kuriyama S‚ Tsuji I‚ Hozawa A.
Combined fat mass and fat-free mass indices and lung function among Japanese population: The Tohoku Medical Megabank Community-based Cohort Study.
J Epidemiol. 2023 Apr 8. doi: 10.2188/jea.JE20220355. Online ahead of print.
Maezawa T‚ Suzuki N‚ Takeuchi H‚ Nishioka M‚ Hidaka M‚ Manabe A‚ Koga Y‚ Kawaguchi H‚ Sasahara Y‚ Tachibana M‚ Iwamoto S‚ Horie A‚ Hiramatsu H‚ Kato M‚ Harada M‚ Yuza Y‚ Hirayama M‚ Takita J‚ Ikeda T‚ Matsumoto K.
Challenges to Widespread Use of Fertility Preservation Facilities for Pediatric Cancer Patients in Japan.
J Adolesc Young Adult Oncol. 2023 Aug 3. doi: 10.1089/jayao.2023.0059. Online ahead of print.
Hasegawa N‚ Hayashi T‚ Niizuma H‚ Kikuta K‚ Imanishi J‚ Endo M‚ Ikeuchi H‚ Sasa K‚ Sano K‚ Hirabayashi K‚ Takagi T‚ Ishijima M‚ Kato S‚ Kohsaka S‚ Saito T‚ Suehara Y.
Detection of Novel Tyrosine Kinase Fusion Genes as Potential Therapeutic Targets in Bone and Soft Tissue Sarcomas Using DNA/RNA-based Clinical Sequencing.
Clin Orthop Relat Res. 2023 Nov 28. doi: 10.1097/CORR.0000000000002901. Online ahead of print.
Urakawa T‚ Sano S‚ Kawashima S‚ Nakamura A‚ Shima H‚ Ohta M‚ Yamada Y‚ Nishida A‚ Narusawa H‚ Ohtsu Y‚ Matsubara K‚ Dateki S‚ Maruo Y‚ Fukami M‚ Ogata T‚ Kagami M.
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.
Eur J Endocrinol. 2023 Dec 1:lvad163. doi: 10.1093/ejendo/lvad163. Online ahead of print.
Kanamori K‚ Suzuki T‚ Tatsuta N‚ Ota C; Japan Environment and Children’s Study Group.
Environments affect blood pressure in toddlers: The Japan Environment and Children's Study.
Pediatr Res. 2023 Aug 26.doi: 10.1038/s41390-023-02796-8. Online ahead of print.
Tokioka S‚ Nakaya N‚ Nakaya K‚ Kogure M‚ Hatanaka R‚ Chiba I‚ Kanno I‚ Nochioka K‚ Metoki H‚ Murakami T‚ Satoh M‚ Nakamura T‚ Ishikuro M‚ Obara T‚ Hamanaka Y‚ Orui M‚ Kobayashi T‚ Uruno A‚ Kodama EN‚ Nagaie S‚ Ogishima S‚ Izumi Y‚ Fuse N‚ Kuriyama S‚ Hozawa A.
The association between depressive symptoms and masked hypertension in participants with normotension measured at research center.
Hypertens Res. 2023 Oct 31.doi: 10.1038/s41440-023-01484-8. Online ahead of print.
笹原洋二
CDC42が誘導するインフラマソームの新たな炎症誘導機構
臨床免疫・アレルギー科 79:559-563‚ 2023
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「小児科診療ガイドライン -最新の診療指針- 第5版」総合医学社
ITP p409-413
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「ミトコンドリア病診療マニュアル2023」診断と治療社
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ウィスコット・オルドリッチ(Wiskott-Aldrich)症候群(WAS) p30-35
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NFKB2欠損症 p90-95
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腸炎を伴う免疫不全症 p125-131
笹原洋二(日本血液学会 編集)
「血液専門医テキスト(改訂第4版)」南江堂
先天性血小板減少症・機能異常症 p433-436
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「日本臨牀 2023年10月別冊 血液症候群(第3版)Ⅱ ~その他の血液疾患を含めて~」日本臨牀社
Wiskott-Aldrich症候群 p298−303