研究者総覧 - 井原　健二

イハラ　ケンジ
井原　健二

所属大分大学医学部臨床医学・小児科学

職種教授

論文
論文	Impact of Postnatal Changes in Creatinine Levels on Plasma Gentamicin Concentrations in Neonates. Pharmaceutical research 2026/03/16
論文	Common dominant-negative spectrum of SLC45A2 mutations in OCA4 defined by endoplasmic reticulum retention. Biochemical and biophysical research communications 811,153578-153578頁 2026/03/06
論文	Childhood-Onset Systemic Lupus Erythematosus Research over the Past Decade in Japan Children 2026/02
論文	Clinical and virological impacts of human parvovirus B19 epidemics on fulminant myocarditis in childhood. BMC Pediatr 26 (1),127 2026/01
論文	A 15-Year-Old Boy in Long-Term Remission of Epileptic Seizures With Infantile-Onset Attenuated Nonketotic Hyperglycinemia Cureus 17 (12),e98474 2025/12/04
論文	A child with Wolff-Parkinson-White syndrome and idiopathic ventricular fibrillation. The 18th Asia Pacific Heart rhythm society scientific session 2025/11
論文	特別支援学校における医療的ケア児へ養護教諭が果たす職務に関する文献研究小児保健研究 84 (6),424-432頁 2025/11
論文	A survey of hospital nurses’ experience and learning needs in genetic medicine in rural Japan: For the establishment of support systems for people living with rare genetic disorders The Progeria research foundation 12 th international scientific workshop 2025/10
論文	Caregivers’ Emotional Responses Triggered by a False-Positive VLCADD in Newborn Screening in Oita Prefecture International Journal of Neonatal Screening 2025/10
論文	National interview survey for patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies and their families in Japan The Progeria research foundation 12 th international scientific workshop 2025/10
論文	National Survey of Hutchinson-Gilford Progeria Syndrome and Progeroid laminopathy in Japan The Progeria research foundation 12 th international scientific workshop 2025/10
論文	H3K27me3 and HOXA9 expression predict prognosis in pediatric acute myeloid leukemia: an epigenetic-transcriptional correlation study Frontiers in Hematology 4 2025/09/25
論文	Postoperative malignant hyperthermia in a one-year-old girl with down syndrome: a case report. Journal of anesthesia 2025/09/15
論文	Examination of brain morphology and perinatal background factors associated with characteristics of early infantile spontaneous movements. Brain & development 47 (5),104433-104433頁 2025/09/11
論文	A boy diagnosed with infantile-onset ornithine transcarbamylase deficiency presented with an acute onset hemiconvulsion-hemiplegia-epilepsy syndrome 15th International Congress of Inborn Errors of Metabolism 2025/09
論文	Atypical nonketotic hyperglycinemia with long-term epileptic seizure remission: A case with a novel AMT gene variant 15th International Congress of Inborn Errors of Metabolism 2025/09
論文	Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss 15th International Congress of Inborn Errors of Metabolism 2025/09
論文	Integrative Clinical and Zebrafish Model Analysis of RARS2-Related Neonatal Mitochondrial Disease 15th International Congress of Inborn Errors of Metabolism 2025/09
論文	Learning needs and experiences of hospital nurses in genetic medicine in a rural area of Japan: A cross-sectional questionnaire survey in Oita prefecture Preventive Medicine Reports,103239-103239頁 2025/09
論文	Liver pathology in Lars1-Knockin zebrafish and mouse models of infantile liver failure syndrome type 1 15th International Congress of Inborn Errors of Metabolism 2025/09
論文	Umbilical cord serum metabolomics identifies amino acid alterations associated with impaired linear growth in small for gestational age infants. Scientific reports 15 (1),27378-27378頁 2025/07/28
論文	A gain-of-function PIK3CD variant, R512W, impairs T cell function through polyamine-dependent metabolic dysregulation. Biochemical and biophysical research communications 778,152378-152378頁 2025/07/17
論文	National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan. Aging 17 2025/07/09
論文	Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration Study Life 2025/07
論文	Epileptic seizures and EEG findings in 3p deletion syndrome involving SLC6A1. European journal of medical genetics 76,105027-105027頁 2025/06/13
論文	Sarcopenia in children with acute leukemia worsened after induction therapy. Endocrine journal 2025/05/16
論文	Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss. International journal of neonatal screening 11 (2) 2025/04/29
論文	小児・思春期1型糖尿病の前向きコホートにおいて,最終年のHbA1cは,初年のHbA1cと強く関連する糖尿病 68 (Suppl.),S-281頁 2025/04
論文	先天性プロテインC欠乏症の長期的な中枢神経機能の予後自験二症例と文献的考察大分県医学会雑誌 33,82-86頁 2025/03
論文	For early diagnosis of young patients with Werner syndrome: Indication for genetic testing Geriatrics and Gerontology International 2025/02/10
論文	Metabolomic characteristics of cord blood from neonates with hyperkalemia after antenatal exposure to ritodrine and magnesium sulfate. Scientific reports 15 (1),2186-2186頁 2025/01/16
論文	Detection of Gastroesophageal Reflux Associated With Apnea in a Preterm Infant Using Multichannel Intraluminal Impedance-pH Monitoring: A Case Report. Cureus 17 (1),e77504 2025/01
論文	A 14-year girl with thrombotic thrombocytopenic purpura and Sjögren's syndrome. Pediatrics international : official journal of the Japan Pediatric Society 67 (1),e70069 2025
論文	節外性 NK/T 細胞リンパ腫，鼻型を併発した慢性活動性 EB ウイルス病 The Nishinihon Journal of Dermatology 86 (6),555-557頁 2024/12/01
論文	Coagulopathy by vitamin K deficiency: Clinical pitfall in a case with cerebral palsy under long-term enteral nutrition Brain and Development Case Reports 2 (4),100050-100050頁 2024/12
論文	川崎病症状を契機に診断した無症候性先天性冠動脈瘻と既報のまとめ日本小児科学会雑誌 128 (12),1524-1530頁 2024/12
論文	A県における医療的ケア児の訪問看護師研修会を受講した訪問看護師の実践小児看護 47 (11),1401-1406頁 2024/11
論文	Severity of Acute Kawasaki Disease Can Be Predicted by Evaluating the Body Temperature at the Completion of an Initial Immunoglobulin Treatment Journal of Clinical Medicine 2024/11
論文	Early defibrotide therapy and risk factors for post-transplant veno-occlusive disease/sinusoidal obstruction syndrome in childhood. Pediatric blood & cancer,e31331 2024/09/17
論文	Intrauterine twin environment and genetic factors subliminally affecting general movements in preterm infants Brain and Development 46 (8),255-261頁 2024/09
論文	NICU入院を要した精神疾患合併母体・児に関するボンディング障害のリスク因子の後方視的検討日本小児科学会雑誌 128 (9),1194-1195頁 2024/09
論文	RARS2遺伝子の病的バリアントによるミトコンドリア病の新生児例日本小児科学会雑誌 128 (9),1194-1194頁 2024/09
論文	最重症の経過を辿った視神経脊髄炎スペクトラム障害の1例日本小児科学会雑誌 128 (9),1194-1194頁 2024/09
論文	唇顎口蓋裂術後に悪性高熱症を発症した21トリソミー・房室中隔欠損症の1歳女児例日本小児科学会雑誌 128 (9),1193-1193頁 2024/09
論文	大分大学医学部附属病院の遺伝子診療室における遺伝カウンセリングの取り組みと課題大分県医学会雑誌 32,50-59頁 2024/09
論文	A pathogenic variant Gly148Arg of ACTA2 gene causes left ventricular myocardial compaction: cardiac manifestations in a zebrafish model. European Societyof Human Genetics Conference(ESHG 2024) 2024/06
論文	Behavioral and neurotransmitter changes on antiepileptic drugs treatment in the zebrafish pentylenetetrazol-induced seizure model FENS forum 2024 2024/06
論文	Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood. European journal of medical genetics 69,104939-104939頁 2024/06
論文	出生前にリトドリンと硫酸マグネシウムに曝露された新生児の臍帯血メタボローム解析日本周産期・新生児医学会雑誌 60 (Suppl.1),P215-P215頁 2024/06
論文	Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy. Orphanet journal of rare diseases 19 (1),219-219頁 2024/05/28
論文	Knock-inゼブラフィッシュによるleucyl-tRNA synthetase(LARS)欠損症の特徴的表現型の解明(Elucidating characteristic phenotypes of leucyl-tRNA synthetase (LARS) deficiency unveiled via knock-in zebrafish) 日本内分泌学会雑誌 100 (1),398-398頁 2024/05
論文	Knock-inゼブラフィッシュによるleucyl-tRNA synthetase(LARS)欠損症の特徴的表現型の解明(Elucidating characteristic phenotypes of leucyl-tRNA synthetase (LARS) deficiency unveiled via knock-in zebrafish) 日本内分泌学会雑誌 100 (1),398-398頁 2024/05
論文	遠位尿細管性アシドーシスに伴う難聴発症のメカニズム解明日本小児腎臓病学会雑誌 37 (Suppl.),94-94頁 2024/05
論文	思春期1型糖尿病は、前思春期1型糖尿病よりもインスリンポンプ、SAPの使用率が低い日本内分泌学会雑誌 100 (1),311-311頁 2024/05
論文	思春期1型糖尿病は、前思春期1型糖尿病よりもインスリンポンプ、SAPの使用率が低い日本内分泌学会雑誌 100 (1),311-311頁 2024/05
論文	将来の小児科医への提言2024 日本小児科学会雑誌 128 (5),758-762頁 2024/05
論文	新規PIK3CD遺伝子変異によるSLE発症のメカニズムの解析日本小児腎臓病学会雑誌 37 (Suppl.),168-168頁 2024/05
論文	親にモザイクを認めたSCN2A遺伝子病的バリアントによる早期乳児発達性てんかん性脳症(EIDEE)の新生児例脳と発達 56 (3),224-224頁 2024/05
論文	病院から在宅に移行する医療的ケア児へ訪問看護師が行う看護実践－小児の診療看護師（NP）の特性を生かした今後の活動の可能性－日本NP学会誌 8 (1),17-27頁 2024/05
論文	日本の小児思春期1型糖尿病のインスリン治療の現状小児インスリン治療研究会第5コホート研究より糖尿病 67 (Suppl.1),S-188頁 2024/04
論文	日本の小児思春期1型糖尿病のインスリン治療の現状小児インスリン治療研究会第5コホート研究より糖尿病 67 (Suppl.1),S-188頁 2024/04
論文	Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening Molecular Genetics and Metabolism Reports 38,101024-101024頁 2024/03
論文	Clinical characteristics of preterm and term infants with Ureaplasma in gastric fluid. Pediatrics and neonatology 2024/03
論文	Early infantile spontaneous movement in very low birthweight infants is associated with sensory characteristics at the corrected age of 3 years. Brain & development 2024/03
論文	Behavioral and neurotransmitter changes on antiepileptic drugs treatment in the zebrafish pentylenetetrazol-induced seizure model. Behavioural brain research,114920-114920頁 2024/02/23
論文	Infantile Hypothalamic Hamartoma: A Rare Presentation of Isolated Obesity JCEM Case Reports 2024/02/23
論文	Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model. Journal of human genetics 2024/02/05
論文	Abnormal bone marrow T1-weighted MRI images in a pediatric patient with acute lymphoblastic leukemia without peripheral blasts. International journal of hematology 119 (2),107-108頁 2024/02
論文	A pH imbalance is linked to autophagic dysregulation of inner ear hair cells in Atp6v1ba-deficient zebrafish. Biochemical and biophysical research communications 699,149551-149551頁 2024/01/19
論文	PTPN11 and FLNA variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 33 (3),169-173頁 2024
論文	出生前診断されたタナトフォリック骨異形成症の1例と日本国内報告例の包括的検討日本周産期・新生児医学会雑誌 59 (3),397-402頁 2023/12
論文	Association between early infantile spontaneous movement and sensory characteristics in very-low-birth-weight infants: A prospective cohort study The 18th Congress of the Asian Society for Pediatric Research 2023/11
論文	Case studies on safety of Selumetinib in Japanese pediatric patients with neurofibromatosis type 1. The 18th Congress of the Asian Society for Pediatric Research 2023/11
論文	Clinical features of ADH5/ALDH2 deficiency during childhood The 18th Congress of the Asian Society for Pediatric Research 2023/11
論文	Detection and identification of neonates hospitalized in NICU in gastric fluids by multiplex PCR The 18th Congress of the Asian Society for Pediatric Research 2023/11
論文	Diabetic lipemia as a predisposing state to acute pancreatitis: a case report and literature review The 18th Congress of the Asian Society for Pediatric Research 2023/11
論文	Establishment of normal values of ventricular repolarization markers in Japanese healthy children, and predicting long-term ventricular arrhythmia risk in children with acute lymphoblastic leukemia using their markers The 18th Congress of the Asian Society for Pediatric Research 2023/11
論文	Otolaryngological Management of Down Syndrome Patients: A Clinical Genetics Approach The 9th Asia Pacific Pediatric Otolaryngology Group Conference(9th APOG) 2023/11
論文	Posterior reversible encephalopathy syndrome attributed to treatment for Kawasaki disease The 18th Congress of the Asian Society for Pediatric Research 2023/11
論文	Rituximab-induced serum sickness in a girl with frequently relapsing nephrotic syndrome The 18th Congress of the Asian Society for Pediatric Research 2023/11
論文	The effects underlying intrauterine twin environment and genetic factors on general movements in preterm infants. The 18th Congress of the Asian Society for Pediatric Research 2023/11
論文	What is the best management for asymptomatic 3-methylglutaconic aciduria type 1 detected by newborn screening? Case and review The 18th Congress of the Asian Society for Pediatric Research 2023/11
論文	Autophagy enhancement induces steatosis in the developing liver of lars-knock-in zebrafish Human Generics Asia 2023 2023/10
論文	脊髄髄膜瘤の新生児期頭部・脊髄MRI所見と神経機能予後の関連大分県医学会雑誌 30,6-11頁 2023/10
論文	Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites. Molecular genetics and metabolism,107703-107703頁 2023/09/28
論文	Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial 3243A>G mutation. Brain pathology (Zurich, Switzerland),e13199 2023/08/03
論文	Predicting Long-Term Ventricular Arrhythmia Risk in Children with Acute Lymphoblastic Leukemia Using Normal Values of Ventricular Repolarization Markers Established from Japanese Cohort Study. Journal of clinical medicine 12 (14) 2023/07/17
論文	Diabetic lipemia as a predisposing state to acute pancreatitis: a case report and literature review. Diabetology international 14 (3),304-311頁 2023/07
論文	Long-term trends of pediatric type 1 diabetes incidence in Japan before and after the COVID-19 pandemic. Scientific reports 13 (1),5803-5803頁 2023/04/10
論文	Long-term trends of pediatric type 1 diabetes incidence in Japan: before and during the COVID- 19 pandemic years (1999–2021) International Meeting in Pediatric Endocrinology 2023 2023/03
論文	Sarcopenia in children with acute leukemia was worsening after induction therapy International Meeting in Pediatric Endocrinology 2023 2023/03
論文	SDQを用いた5歳児精密健診の効果についての検討大分県医学会雑誌 29,45-50頁 2023/03
論文	Secular trends in obesity and dyslipidemia in 10-year-old children: a long-term epidemiological survey over 27 years in Oita City, Japan International Meeting in Pediatric Endocrinology 2023 2023/03
論文	The stability of amino acids, free and acyl-carnitine in dried blood specimens stored after newborn screening International Meeting in Pediatric Endocrinology 2023 2023/03
論文	Elucidation of the mechanism of hearing loss associated with distal tubular acidosis Asian Conference on Fish Models for Diseases 2023/02
論文	Celiac Disease Genetics, Pathogenesis, and Standard Therapy for Japanese Patients. International journal of molecular sciences 24 (3) 2023/01/20
論文	右大腿部の疼痛と右足の跛行を呈した馬尾腫瘍の7歳女児脳と発達 55 (1),67-67頁 2023/01
論文	Comparison of physician- and self-assessed pubertal onset in Japanese children. Frontiers in pediatrics 11,950541-950541頁 2023
論文	Multifaceted support for quality of life in childhood cancer survivors: Questionnaire survey. Pediatrics international : official journal of the Japan Pediatric Society 65 (1),e15706 2023
論文	An Algorithm for the Detection of General Movements of Preterm Infants Based on the Instantaneous Heart Rate. Children (Basel, Switzerland) 10 (1) 2022/12/29
論文	Acute myeloid leukemia associated with CHARGE syndrome. American journal of medical genetics. Part A 191 (3),878-881頁 2022/12/21
論文	Pancreatoblastoma with a novel fusion gene of IQSEC1-RAF1. Pediatric blood & cancer 70 (4),e30155 2022/12/15
論文	A Seven-Year-Old Girl With Dysphagia Due to Fear of Swallowing: A Favorable Outcome With Cognitive Behavioral Therapy Using an Anxiety Hierarchy Chart. Cureus 14 (12),e33196 2022/12
論文	Rituximab-induced serum sickness in a girl with nephrotic syndrome. CEN case reports 11 (4),506-510頁 2022/11
論文	Myocarditis in 13-Year-Old Monochorionic Diamniotic Twins After COVID-19 Vaccination. Journal of clinical immunology 42 (7),1351-1353頁 2022/10
論文	Sensorineural Hearing Loss in Sjögren's Syndrome. International journal of molecular sciences 23 (19) 2022/09/23
論文	An autopsy case of recurrent pneumothorax and peliosis-like intrapulmonary hematoma with X-linked myotubular myopathy. Brain & development 44 (3),234-238頁 2022/03
論文	Airway Emergencies Due to Anterior Mediastinal T-Lymphoblastic Lymphoma Managed With Planned Extracorporeal Membrane Oxygenation and Endotracheal Stent: A Case Report and Literature Review. Cureus 14 (2),e21799 2022/02
論文	Secular Trends in Obesity and Serum Lipid Values among Children in Oita City, Japan, during a 27-Year Period. Journal of atherosclerosis and thrombosis 29 (12),1709-1726頁 2022/01/29
論文	A longitudinal ulcer due to Yersinia pseudotuberculosis infection in a girl. Pediatrics international : official journal of the Japan Pediatric Society 64 (1),e15036 2022/01
論文	An adolescent boy with takotsubo cardiomyopathy after COVID-19 vaccination. Pediatrics international : official journal of the Japan Pediatric Society 64 (1),e15321 2022/01
論文	Atypical food protein-induced enterocolitis syndrome after vaccinations. Pediatrics international : official journal of the Japan Pediatric Society 64 (1),e14891 2022/01
論文	Feto-maternal hemorrhage with placental chorioangioma: Two case reports. Pediatrics international : official journal of the Japan Pediatric Society 64 (1),e15196 2022/01
論文	Renal lesions mimicking acute focal bacterial nephritis in pediatric leukemia. Pediatrics international : official journal of the Japan Pediatric Society 64 (1),e14838 2022/01
論文	Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan. Pediatrics international : official journal of the Japan Pediatric Society 64 (1),e15120 2022/01
論文	Simultaneous monitoring of oxygen and carbon dioxide for Pitt-Hopkins syndrome. Pediatrics international : official journal of the Japan Pediatric Society 64 (1),e15180 2022/01
論文	Stability of amino acids, free and acyl-carnitine in stored dried blood spots. Pediatrics international : official journal of the Japan Pediatric Society 64 (1),e15072 2022/01
論文	Fidgety Movements Assessment Accuracy Survey in Japan. International journal of environmental research and public health 18 (24) 2021/12/20
論文	Unilateral Sensorineural Hearing Loss in Children Associated With Sjögren's Syndrome. Cureus 13 (10),e18832 2021/10
論文	Psoriasis with short stature improved by adalimumab. Pediatric dermatology 38 (5),1379-1381頁 2021/09
論文	ロイシルtRNA合成酵素欠損ゼブラフィッシュを用いた乳児肝不全症候群の病態解明日本先天代謝異常学会雑誌 37,125-125頁 2021/09
論文	Metabolome Characteristics of Liver Autophagy Deficiency under Starvation Conditions in Infancy. Nutrients 13 (9),3026-3026頁 2021/08/29
論文	A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess. CEN case reports 10 (2),241-243頁 2021/05
論文	Leucyl-tRNA synthetase deficiency systemically induces excessive autophagy in zebrafish. Scientific reports 11 (1),8392-8392頁 2021/04/16
論文	Topoisomerase IIβ immunoreactivity (IR) co-localizes with neuronal marker-IR but not glial fibrillary acidic protein-IR in GLI3-positive medulloblastomas: an immunohistochemical analysis of 124 medulloblastomas from the Japan Children's Cancer Group. Brain tumor pathology 38 (2),109-121頁 2021/04
論文	Hydrocortisone improved dexamethasone-induced neuropsychological adverse effects. Pediatrics international : official journal of the Japan Pediatric Society 63 (3),339-342頁 2021/03
論文	A Japanese infant presenting with hypocalcemic seizures resulting from hypovitaminosis D induced by non-celiac gluten sensitivity. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 30 (2),105-110頁 2021
論文	X-linked mental retardation and severe short stature with a novel mutation of the KDM5C gene. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 30 (1),61-64頁 2021
論文	Pediatric procedural sedation in Japan: A single-facility study of 1,436 cases. Pediatrics international : official journal of the Japan Pediatric Society 62 (12),1346-1350頁 2020/12
論文	Bone marrow metastasis of neuroblastoma mimicking purulent osteomyelitis. Japanese journal of clinical oncology 50 (10),1227-1228頁 2020/09/28
論文	Immune escape by loss of heterozygosis of HLA genes facilitated the transmission of diffuse large B cell lymphoma from mother to offspring. British journal of haematology 189 (6),e234-e237 2020/06
論文	Tyrosine pre-transfer RNA fragments are linked to p53-dependent neuronal cell death via PKM2. Biochemical and biophysical research communications 525 (3),726-732頁 2020/05/07
論文	Early Recovery of Height Velocity in Prepubertal Children With Acute Lymphoblastic Leukemia Treated by a Short Intensive Phase Without Cranial Radiation Therapy. Journal of pediatric hematology/oncology 42 (4),271-274頁 2020/05
論文	The autophagy reaction in the human umbilical cord: a potential marker for estimating fetal nutrition and neonatal growth. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 35 (4),1-5頁 2020/03/03
論文	Gastric Carcinoma as Second Malignant Neoplasm in a Survivor From High-risk Neuroblastoma. Journal of pediatric hematology/oncology 42 (2),160-162頁 2020/03
論文	A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations. Clinical dysmorphology 29 (1),49-52頁 2020/01
論文	Macroglossia in Beckwith-Wiedemann Syndrome Is Attributed to Skeletal Muscle Hyperplasia. Case reports in dentistry 2020,8871961-8871961頁 2020
論文	Malignant transformation of phosphaturic mesenchymal tumor: a case report and literature review. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 29 (2),69-75頁 2020
論文	Postinfectious Acute Disseminated Encephalomyelitis Associated With Antimyelin Oligodendrocyte Glycoprotein Antibody. Child neurology open 7,2329048X20942442 2020
論文	Sphenoethmoidal meningoencephalocele with variable hypopituitarism: A case report and review of literature. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 29 (4),183-187頁 2020
論文	Clinical features of infantile subcutaneous panniculitis-like T-cell lymphoma. Pediatrics international : official journal of the Japan Pediatric Society 61 (12),1261-1262頁 2019/12
論文	Caffeine not associated with irritable behaviour in very low-birth-weight infants. Early human development 137,104835-104835頁 2019/10
論文	Respiratory assessment in a spinal muscular atrophy infant treated with nusinersen. Pediatrics international : official journal of the Japan Pediatric Society 61 (10),1051-1053頁 2019/10
論文	Critical association of Pallister-Hall syndrome and congenital heart disease. Pediatrics international : official journal of the Japan Pediatric Society 61 (8),827-828頁 2019/08
論文	Present status of prophylactic thyroidectomy in pediatric multiple endocrine neoplasia 2: a nationwide survey in Japan 1997-2017. Journal of pediatric endocrinology & metabolism : JPEM 32 (6),585-595頁 2019/06/26
論文	The association between brain morphological development and the quality of general movements. Brain & development 41 (6),490-500頁 2019/06
論文	A Child with Prostaglandin I2-associated Thyrotoxicosis: Case Report Journal of clinical research in pediatric endocrinology 11 (2),207-210頁 2019/05/28
論文	Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood. Endocrine journal 66 (3),215-221頁 2019/03/28
論文	Non-immune hydrops fetalis neonate born to a mother with yellow nail syndrome. Pediatrics international : official journal of the Japan Pediatric Society 61 (3),313-315頁 2019/03
論文	Therapeutic potential of hepatocyte-like-cells converted from stem cells from human exfoliated deciduous teeth in fulminant Wilson's disease. Scientific reports 9 (1),1535-1535頁 2019/02/07
論文	多発性内分泌腫瘍症2型小児の手術合併症と予後日本小児内分泌学会甲状腺委員会調査日本小児科学会雑誌 123 (2),318-318頁 2019/02
論文	Immune checkpoint inhibitor therapy for pediatric cancers: A mini review of endocrine adverse events. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 28 (3),59-68頁 2019
論文	Serum amino acid profiling in citrin-deficient children exhibiting normal liver function during the apparently healthy period JIMD Reports 43,53-61頁 2019
論文	The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 28 (4),139-145頁 2019
論文	MEN2型小児の甲状腺髄様癌治療における再発リスクと手術合併症のバランス日本小児内分泌学会甲状腺委員会全国調査報告日本内分泌学会雑誌 94 (4),1229-1229頁 2018/12
論文	Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion. European journal of medical genetics 61 (10),631-633頁 2018/10
論文	Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency. Journal of clinical pathology 71 (10),885-889頁 2018/10
論文	Cholesterol Metabolism Is Enhanced in the Liver and Brain of Children With Citrin Deficiency. The Journal of clinical endocrinology and metabolism 103 (7),2488-2497頁 2018/07
論文	Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan. Endocrine journal 65 (6),593-599頁 2018/06/27
論文	A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy European Journal of Medical Genetics 61 (6),312-314頁 2018/06/01
論文	神経因性膀胱を呈した骨盤部原発神経節芽腫(Intermixed subtype)の1男児例日本小児血液・がん学会雑誌 55 (1),79-79頁 2018/06
論文	Metabolic and immunological assessment of small-for-gestational-age children during one-year treatment with growth hormone: the clinical impact of apolipoproteins. Endocrine journal 65 (4),449-459頁 2018/04/26
論文	多発性内分泌腫瘍症(MEN)2型小児診療実態および甲状腺予防摘出術の現状/小児内分泌学会甲状腺委員会全国調査日本内分泌学会雑誌 94 (1),312-312頁 2018/04
論文	Unique cell tropism of HHV-6B in an infantile autopsy case of primary HHV-6B encephalitis. Neuropathology : official journal of the Japanese Society of Neuropathology 38 (4),400-406頁 2018/03/26
論文	Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes. Pediatric diabetes 19 (2),243-250頁 2018/03
論文	周期性片側性てんかん性放電を認めたコクサッキーウイルスA6による限局性脳炎の1例日本小児科学会雑誌 122 (2),428-428頁 2018/02
論文	乳児ボツリヌス症自験例を含めた国内37症例のまとめ日本小児科学会雑誌 122 (2),314-314頁 2018/02
論文	無熱性けいれんで発症したビタミンD関連低カルシウム血症の人口栄養児2例日本小児科学会雑誌 122 (2),379-379頁 2018/02
論文	Vitamin D deficiency associated with dilated cardiomyopathy in early infancy caused by maternal cholestasis. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 27 (3),187-192頁 2018
論文	The clinical characteristics of Asian patients with classical-type Hutchinson-Gilford progeria syndrome JOURNAL OF HUMAN GENETICS 62 (12),1031-1035頁 2017/12
論文	多発性内分泌腫瘍症(MEN)2型小児例の診療実態および甲状腺予防摘出術の現状について小児内分泌学会甲状腺委員会全国調査中間報告日本内分泌学会雑誌 93 (4),1126-1126頁 2017/12
論文	NUP98-HOXC13 fusion gene in acute myeloid leukemia: Pediatric case PEDIATRICS INTERNATIONAL 59 (10),1105-1106頁 2017/10
論文	高リスク神経芽腫長期生存者に発症した二次胃癌日本小児血液・がん学会雑誌 54 (4),379-379頁 2017/10
論文	Toxic epidermal necrolysis in a child 6 months post-hematopoietic stem cell transplantation PEDIATRIC TRANSPLANTATION 21 (5) 2017/08
論文	臨床研究・症例報告経時的な画像検査により適切な手術範囲と時期を検討し得たPHACE症候群の1例小児科臨床 70 (8),1289-1293頁 2017/08
論文	Increased levels of anti-phosphatidylcholine and anti-phosphatidylethanolamine antibodies in pediatric patients with cerebral infarction. Brain & development 39 (6),542-546頁 2017/06
論文	Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. Human mutation 38 (6),637-648頁 2017/06
論文	手術を行わず経過観察している左頬部発症デスモイドの1例日本小児血液・がん学会雑誌 54 (2),180-180頁 2017/06
論文	本邦における症状を有する小児ビタミンD欠乏症の発症率小児保健研究 76 (講演集),197-197頁 2017/05
論文	FUT2 non-secretor status is associated with Type 1 diabetes susceptibility in Japanese children DIABETIC MEDICINE 34 (4),586-589頁 2017/04
論文	A severe pulmonary complication in a patient with COL4A1-related disorder: A case report. European journal of medical genetics 60 (3),169-171頁 2017/03
論文	Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment. Molecular genetics and metabolism 120 (3),207-212頁 2017/03
論文	生後早期に診断したKagami-Ogata症候群の1例日本小児科学会雑誌 121 (3),636-636頁 2017/03
論文	保護者のステロイド忌避と不適切な栄養制限による重症アトピー性皮膚炎の乳児例日本小児科学会雑誌 121 (3),632-632頁 2017/03
論文	Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan. American journal of medical genetics. Part A 173 (2),360-367頁 2017/02
論文	Central hypoadrenocorticism associated with Rathke's cleft cyst NEUROENDOCRINOLOGY LETTERS 38 (3),141-144頁 2017
論文	Three-Quarters Adrenalectomy for Infantile-Onset Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright Syndrome. Hormone research in paediatrics 88 (3-4),285-290頁 2017
論文	First mixoploid infant with full triploidy in blood cells. Pediatrics international : official journal of the Japan Pediatric Society 58 (12),1354-1355頁 2016/12
論文	Variants associated with autoimmune Type 1 diabetes in Japanese children: implications for age-specific effects of cis-regulatory haplotypes at 17q12-q21 DIABETIC MEDICINE 33 (12),1717-1722頁 2016/12
論文	Analysis of Death Due to Infectious Diseases in Patients Hospitalized in the Pediatric Ward of a Single Japanese Tertiary Medical Facility. Japanese journal of infectious diseases 69 (6),464-470頁 2016/11/22
論文	Reversible cerebral vasoconstriction syndrome manifesting as focal seizures without a thunderclap headache: A pediatric case report. Brain & development 38 (9),880-3頁 2016/10
論文	Aminophylline-associated irritable behaviour in preterm neonates. Early human development 99,37-41頁 2016/08
論文	Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia. European journal of endocrinology 175 (2),127-32頁 2016/08
論文	Management of congenital diaphragmatic hernia with transposition of the great arteries. Pediatrics international : official journal of the Japan Pediatric Society 58 (6),516-518頁 2016/06
論文	早産児の心拍変動解析指標の睡眠覚醒状態別の発達変化日本周産期・新生児医学会雑誌 52 (2),651-651頁 2016/06
論文	De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. Journal of human genetics 61 (5),451-5頁 2016/05
論文	右外踝部難治性潰瘍に蜂窩織炎を併発したWerner症候群の1例糖尿病 59 (Suppl.1),S-345頁 2016/04
論文	もやもや病遺伝子RNF213は炎症性シグナルと血管新生をつなぐ分子である日本小児科学会雑誌 120 (2),229-229頁 2016/02
論文	Blood Reference Intervals for Preterm Low-Birth-Weight Infants: A Multicenter Cohort Study in Japan. PloS one 11 (8),e0161439 2016
論文	小児の頭痛臨床と研究 93 (10),68-72頁 2016
論文	Long-term liposteroid therapy for idiopathic pulmonary hemosiderosis (vol 172, pg 1475, 2013) EUROPEAN JOURNAL OF PEDIATRICS 174 (12),1701-1701頁 2015/12
論文	Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family. CEN case reports 4 (2),218-222頁 2015/11
論文	キアリII型の脊髄破裂術後に矢状静脈洞血栓症を合併したプロテインC欠損症ヘテロ接合の1新生児例日本小児科学会雑誌 119 (10),1537-1537頁 2015/10
論文	コクサッキーB3による劇症型心筋炎、可逆性脳梁膨大部病変を有する軽度脳炎を呈した新生児例日本小児科学会雑誌 119 (10),1536-1536頁 2015/10
論文	起立性調節障害との鑑別を要した下垂体機能低下症の1例日本小児科学会雑誌 119 (10),1534-1534頁 2015/10
論文	In vivo hepatogenic capacity and therapeutic potential of stem cells from human exfoliated deciduous teeth in liver fibrosis in mice. Stem cell research & therapy 6 (1),171-171頁 2015/09/10
論文	MIRAGE症候群副腎皮質機能低下症を含む多彩な症状で新生児期に発症する新規疾患概念確立と責任遺伝子同定日本新生児成育医学会雑誌 27 (3),531-531頁 2015/09
論文	The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan PLOS ONE 10 (9),e0136317 2015/09
論文	Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells. Scientific reports 5,13191-13191頁 2015/08/17
論文	Overexpression of p53 but not Rb in the cytoplasm of neurons and small vessels in an autopsy of a patient with Cockayne syndrome. Neuropathology : official journal of the Japanese Society of Neuropathology 35 (3),266-72頁 2015/06
論文	小児期発症内分泌疾患の移行期医療(第1報) 支援プログラムの作成へ向けて日本内分泌学会雑誌 91 (1),368-368頁 2015/04
論文	デノボNALCN変異を有し、特徴的顔貌、精神運動発達遅滞および高カルシウム血症を示した4歳女児脳と発達 47 (2),136-136頁 2015/03
論文	大分市における小児時間外診療の現状と、大分市小児夜間急患センターの役割日本小児科学会雑誌 119 (2),333-333頁 2015/02
論文	Activation of an Innate Immune Receptor, Nod1, Accelerates Atherogenesis in Apoe(-/-) Mice JOURNAL OF IMMUNOLOGY 194 (2),773-780頁 2015/01
論文	Changes in the hydrophobic proteins in response to biotin administration in serum of infant patients with alopecia as assessed by the protein micro-sequencing method. Journal of Microbial and Biochemical Technology 7 (1),039-046頁 2015
論文	早産児General Movements詳細評価の頭部MRI脳面積との関連性の検討日本未熟児新生児学会雑誌 26 (3),650-650頁 2014/10
論文	腹臥位における早産General Movementsの特徴日本未熟児新生児学会雑誌 26 (3),651-651頁 2014/10
論文	ENDOCRINE AND METABOLIC ABNORMALITIES IN A GIRL WITH CHILDHOOD WERNER SYNDROME: CASE REPORT JOURNAL OF THE AMERICAN GERIATRICS SOCIETY 62 (7),1404-1405頁 2014/07
論文	Weaver症候群の女児例に対するEZH2シークエンスおよびマイクロアレイCGH解析脳と発達 46 (Suppl.),S338-S338頁 2014/05
論文	日本人小児1型糖尿病の疾患感受性遺伝子の探求 ABO型とLewis型血液型抗原の関与日本内分泌学会雑誌 90 (1),269-269頁 2014/04
論文	Thyroid follicular carcinoma in a fourteen-year-old girl with Graves' disease Clinical Pediatric Endocrinology 23 (2),59-64頁 2014
論文	遺伝の基礎知識と遺伝カウンセリングについて.公開シンポジウム「新型出生前診断の導入を考える」より. 福岡医学会雑誌 104 (10),321-325頁 2014
論文	[Basic knowledge of genetics and genetic counseling]. Fukuoka igaku zasshi = Hukuoka acta medica 104 (10),321-325頁 2013/10
論文	Respiratory syncytial virus infection in children with severe motor and intellectual disabilities European Journal of Clinical Microbiology and Infectious Diseases 32 (10),1353-1357頁 2013/10
論文	Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome BRAIN & DEVELOPMENT 35 (7),690-693頁 2013/08
論文	Hypothalamic pituitary complications in Kabuki syndrome PITUITARY 16 (2),133-138頁 2013/06
論文	Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment JOURNAL OF INHERITED METABOLIC DISEASE 36 (3),565-573頁 2013/05
論文	新生児一過性高インスリン性低血糖はSotos症候群の重要な臨床的特徴である日本内分泌学会雑誌 89 (1),256-256頁 2013/04
論文	Lactobacillus inersが起炎菌と考えられた細菌性心外膜炎の一乳児例日本小児科学会雑誌 117 (2),396-396頁 2013/02
論文	在胎週数22-24週で出生した早産児の生存率と神経学的予後日本小児科学会雑誌 117 (2),318-318頁 2013/02
論文	Efficacy of bosentan therapy for segmental pulmonary artery hypertension due to major aortopulmonary collateral arteries in children INTERNATIONAL JOURNAL OF CARDIOLOGY 161 (1),E1-E3頁 2012/11
論文	Bacterial pericarditis caused by Lactobacillus iners in an infant DIAGNOSTIC MICROBIOLOGY AND INFECTIOUS DISEASE 74 (2),181-182頁 2012/10
論文	Endocrine complications in primary immunodeficiency diseases in Japan CLINICAL ENDOCRINOLOGY 77 (4),628-634頁 2012/10
論文	Endocrine complications in primary immunodeficiency diseases in Japan. Clin. Endocrinol. (Oxf) 77 (4),628-634頁 2012/10
論文	Hypothyroidism and Levothyroxine-Responsive Liver Dysfunction in a Patient with Ring Chromosome 18 Syndrome THYROID 22 (10),1080-1083頁 2012/10
論文	Balloon-occluded retrograde transvenous obliteration for congenital portosystemic venous shunt: Report of two cases PEDIATRICS INTERNATIONAL 54 (3),419-421頁 2012/06
論文	Genetic susceptibility to Kawasaki disease: Analysis of pattern recognition receptor genes HUMAN IMMUNOLOGY 73 (6),654-660頁 2012/06
論文	仮死と急性腎不全で発症した新生児後天性プロテインC欠乏症の1例日本産婦人科・新生児血液学会誌 22 (1),S-66頁 2012/06
論文	Complete immunotolerance induction after FEIBA prophylaxis in a haemophilia A patient with high-titre inhibitor HAEMOPHILIA 18 (3),e75-e77頁 2012/05
論文	Linear nevus sebaceous syndrome with hypophosphatemic rickets with elevated FGF-23 PEDIATRIC NEPHROLOGY 27 (5),861-863頁 2012/05
論文	Histo-blood group gene polymorphisms as potential genetic modifiers of the development of coronary artery lesions in patients with Kawasaki disease INTERNATIONAL JOURNAL OF IMMUNOGENETICS 39 (2),119-125頁 2012/04
論文	Tracheal aspirate gene expression in preterm newborns and development of bronchopulmonary dysplasia PEDIATRICS INTERNATIONAL 54 (2),208-214頁 2012/04
論文	A girl with Hajdu-Cheney syndrome and premature ovarian failure JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM 25 (1-2),171-173頁 2012/02
論文	原発性免疫不全症(PID)の合併症としての内分泌疾患 PIDの全国疫学調査結果より日本小児科学会雑誌 116 (2),257-257頁 2012/02
論文	新生児一過性高インスリン性低血糖を認めたSotos症候群の一例日本小児科学会雑誌 116 (2),398-398頁 2012/02
論文	Acute Liver Failure as the Initial Manifestation of Wilson Disease Triggered by Human Parvovirus B19 Infection PEDIATRIC INFECTIOUS DISEASE JOURNAL 31 (1),103-104頁 2012/01
論文	胎児期および幼児期における環境と, 肥満, インスリン抵抗性, 2型糖尿病の発生. Diabetes Frontier 23 (6),695-699頁 2012
論文	年長児の糖原病Ia型：16歳時に肺高血圧症を合併した女性例特殊ミルク情報 48 (12),28-31頁 2012
論文	サイトメガロウイルス肝炎を合併した1次性5β-reductase欠損症の新規例日本小児栄養消化器肝臓学会雑誌 25 (2),99-99頁 2011/12
論文	HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome. Journal of human genetics 56 (10),707-15頁 2011/10
論文	新生児一過性高インスリン性低血糖を認めたSotos症候群の1例日本小児科学会雑誌 115 (9),1493-1494頁 2011/09
論文	Preoperative Management With Nitrogen Inhalation Therapy for a Low-Birth Weight Infant With Tetralogy of Fallot and Absent Pulmonary Valve PEDIATRIC CARDIOLOGY 32 (5),685-688頁 2011/06
論文	Serum chemokine levels and developmental outcome in preterm infants EARLY HUMAN DEVELOPMENT 87 (6),439-443頁 2011/06
論文	BIOTIN DEFICIENCY IN A GLYCOGEN STORAGE DISEASE TYPE 1B GIRL FED ONLY WITH GLYCOGEN STORAGE DISEASE-RELATED FORMULA PEDIATRIC DERMATOLOGY 28 (3),339-341頁 2011/05
論文	The signal transducer and activator of transcription 5B gene polymorphism contributes to the cholesterol metabolism in Japanese children with growth hormone deficiency CLINICAL ENDOCRINOLOGY 74 (5),611-617頁 2011/05
論文	Genetic variation of vascular endothelial growth factor pathway does not correlate with the severity of retinopathy of prematurity JOURNAL OF PERINATOLOGY 31 (4),246-250頁 2011/04
論文	Congenital multiple pituitary hormone deficiency associated with hyperammonemia: a case report with a short review of the literature JOURNAL OF PERINATOLOGY 31 (2),146-148頁 2011/02
論文	一過性高アンモニア血症を示した先天性複合型下垂体機能低下症の新生児例日本小児科学会雑誌 115 (2),478-478頁 2011/02
論文	早産児の新生児期における血清プロヘプシジン濃度日本小児科学会雑誌 115 (2),309-309頁 2011/02
論文	未熟児網膜症重症化に対するVEGF pathwayの遺伝的影響の検討日本小児科学会雑誌 115 (2),359-359頁 2011/02
論文	早産児における出生時と1生月の血清プロヘプシジン値小児がん 47 (プログラム・総会号),453-453頁 2010/12
論文	早産児の新生児期における血清ケモカイン値と3歳時の発達日本小児科学会雑誌 114 (7),1104-1104頁 2010/07
論文	PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis HUMAN GENETICS 127 (4),411-419頁 2010/04
論文	Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations JOURNAL OF HUMAN GENETICS 55 (1),18-22頁 2010/01
論文	Lack of association between E148Q MEFV variant and Kawasaki disease HUMAN IMMUNOLOGY 70 (6),468-471頁 2009/06
論文	Association study between B- and T-lymphocyte attenuator gene and type 1 diabetes mellitus or systemic lupus erythematosus in the Japanese population INTERNATIONAL JOURNAL OF IMMUNOGENETICS 36 (1),65-68頁 2009/02
論文	Case report: Adjuvant therapy with a high dose of mitotane for adrenocortical carcinoma in a 4-year-old boy Clinical Pediatric Endocrinology 17 (3),71-74頁 2008/07
論文	Pulmonary hypertension in patients with congenital portosystemic venous shunt: A previously unrecognized association PEDIATRICS 121 (4),E892-E899頁 2008/04
論文	Genetic analysis of MMP gene polymorphisms in patients with Kawasaki disease PEDIATRIC RESEARCH 63 (2),182-185頁 2008/02
論文	Genetic polymorphisms in the growth hormone rexeptor: Impact on growth response and disease susceptibility Current Pharmacogenomics and Personalized Medicine 6 (4),295-301頁 2008
論文	成長ホルモン受容体遺伝子Leu544Ile多型は、成長ホルモン治療による脂質代謝に関わる遺伝的背景因子である. ホルモンと臨床 56 (12),11-16頁 2008
論文	Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency JOURNAL OF HUMAN GENETICS 52 (12),1040-1043頁 2007/12
論文	The Leu544Ile polymorphism of the growth hormone receptor gene affects the serum cholesterol levels during GH treatment in children with GH deficiency CLINICAL ENDOCRINOLOGY 67 (2),212-217頁 2007/08
論文	PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children HUMAN GENETICS 121 (2),223-232頁 2007/04
論文	Persistent diffusion abnormalities in the brain stem of three children with mitochondrial diseases AMERICAN JOURNAL OF NEURORADIOLOGY 27 (9),1924-1926頁 2006/10
論文	Phenotypic and genetic analyses of T-cell-mediated immunoregulation in patients with Type 1 diabetes DIABETIC MEDICINE 23 (10),1145-1150頁 2006/10
論文	Association study of polymorphisms in SOCS family genes with type 1 diabetes mellitus INTERNATIONAL JOURNAL OF IMMUNOGENETICS 33 (1),7-10頁 2006/02
論文	Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation EXPERIMENTAL HEMATOLOGY 33 (10),1215-1221頁 2005/10
論文	Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor PEDIATRIC TRANSPLANTATION 9 (1),101-103頁 2005/02
論文	A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: A pitfall in enzymatic diagnosis for hyperammonaemia JOURNAL OF INHERITED METABOLIC DISEASE 28 (5),681-687頁 2005
論文	Acute encephalopathy associated with influenza virus infection in a patient with hyperprolinaemia type II JOURNAL OF INHERITED METABOLIC DISEASE 28 (5),789-790頁 2005
論文	慢性大腸炎を合併した糖原病Ib型の1例. 胃と腸 40,1190-1196頁 2005
論文	Association of vascular endothelial growth factor (VEGF) and VEGF receptor gene polymorphisms with coronary artery lesions of Kawasaki disease PEDIATRIC RESEARCH 56 (6),953-959頁 2004/12
論文	Association study of human MTH1 gene polymorphisms with type 1 diabetes mellitus ENDOCRINE JOURNAL 51 (5),493-498頁 2004/10
論文	Characteristic expression of aryl hydrocarbon receptor repressor gene in human tissues: Organ-specific distribution and variable induction patterns in mononuclear cells LIFE SCIENCES 74 (8),1039-1049頁 2004/01
論文	Characteristic expression of aryl hydrocarbon receptor repressor gene in human tissues: Organ-specific distribution and variable induction patterns in mononuclear cells LIFE SCIENCES 74 (8),1039-1049頁 2004/01
論文	Clinical significance of a highly sensitive analysis for gene dosage and the expression level of MYCN in neuroblastoma JOURNAL OF PEDIATRIC SURGERY 39 (1),63-68頁 2004/01
論文	Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation BLOOD 103 (1),185-187頁 2004/01
論文	The lipocalin 24p3, which is an essential molecule in IL-3 withdrawal-induced apoptosis, is not involved in the G-CSF withdrawal-induced apoptosis EUROPEAN JOURNAL OF HAEMATOLOGY 71 (6),412-417頁 2003/12
論文	A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes IMMUNOGENETICS 55 (3),149-156頁 2003/06
論文	Association study between interleukin-12 receptor beta 1/beta 2 genes and type 1 diabetes or asthma in the Japanese population IMMUNOGENETICS 55 (3),189-192頁 2003/06
論文	Cytokine imbalance in hyper-IgE syndrome: reduced expression of transforming growth factor beta and interferon gamma genes in circulating activated T cells BRITISH JOURNAL OF HAEMATOLOGY 121 (2),324-331頁 2003/04
論文	Inducible and endothelial constitutive nitric oxide synthase gene polymorphisms in Kawasaki disease PEDIATRICS INTERNATIONAL 45 (2),130-134頁 2003/04
論文	Founder effect of the C9 R95X mutation in Orientals. Human genetics 112,244-248頁 2003/03
論文	Th1 and Th1-inducing cytokines in Salmonella infection CLINICAL AND EXPERIMENTAL IMMUNOLOGY 131 (1),111-117頁 2003/01
論文	20.胆汁鬱滞性肝障害にて発見されたシトルリン血症の2例(要望演題)(第29回日本胆道閉鎖症研究会) 日本小児外科学会雑誌 39 (2),255-255頁 2003
論文	Dominant expression of interleukin 10 but not interferon gamma in CD4(-)CD8(-) alpha beta T cells of autoimmune lymphoproliferative syndrome BRITISH JOURNAL OF HAEMATOLOGY 119 (2),535-538頁 2002/11
論文	Five novel SLC7A7 variants and y(+)L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance HUMAN MUTATION 20 (5),375-381頁 2002/11
論文	Polymorphisms of transforming growth factor-beta 1 and transforming growth factor-beta 1 type II receptor genes are associated with acute graft-versus-host disease in children with HLA-matched sibling bone marrow transplantation BONE MARROW TRANSPLANTATION 30 (10),665-671頁 2002/11
論文	Association study of the NRAMP1 gene promoter polymorphism and early-onset type 1 diabetes IMMUNOGENETICS 54 (4),282-285頁 2002/07
論文	A functional polymorphism in Fas (CD95/APO-1) gene promoter associated with systemic lupus erythematosus JOURNAL OF RHEUMATOLOGY 29 (6),1183-1188頁 2002/06
論文	Contribution of the interleukin 4 gene to susceptibility to subacute sclerosing panencephalitis ARCHIVES OF NEUROLOGY 59 (5),822-827頁 2002/05
論文	Association study between CD30 and CD30 ligand genes and type 1 diabetes in the Japanese population GENES AND IMMUNITY 3 (2),96-101頁 2002/04
論文	A case of growth hormone and gonadotropin deficiency associated with unilateral anophthalmia, microphallus, cryptorchidism, and mental retardation ENDOCRINE JOURNAL 49 (1),15-20頁 2002/02
論文	Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan BRITISH JOURNAL OF HAEMATOLOGY 116 (2),346-349頁 2002/02
論文	P-139 神経芽腫における MYCN 増幅細胞の高感度解析日本小児外科学会雑誌 38 (3),562-562頁 2002
論文	血小板減少症とc-mpl遺伝子異常. 日本小児血液学会雑誌 16,335-339頁 2002
論文	Physical growth and retinopathy in preterm infants: Involvement of IGF-I and GH PEDIATRIC RESEARCH 50 (6),732-736頁 2001/12
論文	High expression of platelet-derived growth factor and transforming growth factor-beta 1 in blast cells from patients with Down Syndrome suffering from transient myeloproliferative disorder and organ fibrosis BRITISH JOURNAL OF HAEMATOLOGY 115 (2),472-475頁 2001/11
論文	Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with type 1 diabetes in the Japanese population IMMUNOGENETICS 53 (6),447-454頁 2001/08
論文	Association of CTLA-4 but not CD28 gene polymorphisms with systemic lupus erythematosus in the Japanese population RHEUMATOLOGY 40 (6),662-667頁 2001/06
論文	Inflammatory bowel disease-like colitis in glycogen storage disease type lb INFLAMMATORY BOWEL DISEASES 7 (2),128-132頁 2001/05
論文	Quick quantitative analysis of gene dosages associated with prognosis in neuroblastoma CANCER LETTERS 166 (1),89-94頁 2001/05
論文	Rapid detection of the 22q11.2 deletion with quantitative real-time PCR MOLECULAR AND CELLULAR PROBES 15 (2),71-73頁 2001/04
論文	Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY 107 (3),499-504頁 2001/03
論文	Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression GENOMICS 72 (2),145-152頁 2001/03
論文	Epstein-Barr virus (EBV) load and cytokine gene expression in activated T cells of chronic active EBV infection JOURNAL OF INFECTIOUS DISEASES 183 (1),1-7頁 2001/01
論文	Cockayne syndrome Ryōikibetsu shōkōgun shirīzu (33) 2001
論文	トロンボポエチンレセプター異常と血小板減少症. 血液フロンティア 11,47-56頁 2001
論文	先天異常症候群（上）Cockayne症候群（分担）日本臨床（別刷）,463-465頁 2001
論文	Inflammatory bowel disease-like complication in anhidrotic ectodermal dysplasia AMERICAN JOURNAL OF GASTROENTEROLOGY 95 (12),3651-3652頁 2000/12
論文	Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells JOURNAL OF INHERITED METABOLIC DISEASE 23 (6),583-592頁 2000/09
論文	A case of congenital afibrinogenemia: Fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene THROMBOSIS AND HAEMOSTASIS 84 (1),49-53頁 2000/07
論文	細菌性中枢神経感染症の発症に関与する生体側因子遺伝的背景を中心に脳と神経 52 (6),495-499頁 2000/06
論文	Genomic imprinting of insulin-like growth factor-2 in infant leukemia and childhood neuroblastoma CANCER 88 (10),2372-2377頁 2000/05
論文	電位依存性カリウムチャネルKCNQ2遺伝子多型の単純型熱性けいれんにおける意義の検討脳と発達 32 (Suppl.),S219-S219頁 2000/05
論文	Analysis of measles virus binding sites of the CD46 in patients with subacute sclerosing panencephalitis JOURNAL OF INFECTIOUS DISEASES 181 (4),1447-1449頁 2000/04
論文	Lack of association between atopic asthma and polymorphisms of the histamine H1 receptor, histamine H2 receptor, and histamine N-methyltransferase genes IMMUNOGENETICS 51 (3),238-240頁 2000/03
論文	乳児期に非血縁者間臍帯血移植を施行したムコ多糖症I型(Hurler症候群)の1例日本小児血液学会雑誌 14 (1),23-28頁 2000/02
論文	Neurotrophin-3 levels in cerebrospinal fluid from children with bacterial meningitis, viral meningitis, or encephalitis JOURNAL OF CHILD NEUROLOGY 15 (1),19-21頁 2000/01
論文	胎児期に腹水と徐脈,生後肺高血圧を呈したムコ多糖症の1例脳と発達 32 (1),83-83頁 2000/01
論文	C1 inhibitor deficiency Ryōikibetsu shōkōgun shirīzu (32) 2000
論文	Childhood atopic asthma: Positive association with a polymorphism of IL-4 receptor a gene but not with that of IL-4 promoter or Fc epsilon receptor I beta gene EXPERIMENTAL AND CLINICAL IMMUNOGENETICS 17 (2),63-70頁 2000
論文	Complement component 9 deficiency is not a susceptibility factor for SLE LUPUS 9 (6),456-457頁 2000
論文	Lack of association between CD28/CTLA-4 gene polymorphisms and atopic asthma in the Japanese population EXPERIMENTAL AND CLINICAL IMMUNOGENETICS 17 (4),179-184頁 2000
論文	Novel polymorphism in the coding region of the IL-13 receptor alpha ' gene: Association study with atopic asthma in the Japanese population EXPERIMENTAL AND CLINICAL IMMUNOGENETICS 17 (1),18-22頁 2000
論文	W226 小児アトピー喘息の発症・重症度および治療感受性を規定する遺伝子多型の探求アレルギー 49 (2),290-290頁 2000
論文	細菌性中枢神経感染症の発症に関する生体側因子ー遺伝的背景を中心にー Brain and Nerve 52 (495),499 2000
論文	先天性無巨核球性血小板減少症におけるトロンボポイエチン受容体(c-mpl)遺伝子異常. 福岡医学雑誌 91 (9),207-211頁 2000
論文	免疫症候群（下） C1 inhibitor欠損症（分担）日本臨床（別刷）,215-217頁 2000
論文	High expression but no internal tandem duplication of FLT3 in normal hematopoietic cells PEDIATRIC HEMATOLOGY AND ONCOLOGY 16 (5),437-441頁 1999/09
論文	Oversecretion of IL-18 in haemophagocytic lymphohistiocytosis: a novel marker of disease activity BRITISH JOURNAL OF HAEMATOLOGY 106 (1),182-189頁 1999/07
論文	Association of interleukin-4 receptor and interleukin-4 promoter gene polymorphisms with systemic lupus erythematosus ARTHRITIS AND RHEUMATISM 42 (6),1298-1300頁 1999/06
論文	Rubinstein-Taybi syndrome: A girl with a history of neuroblastoma and premature thelarche AMERICAN JOURNAL OF MEDICAL GENETICS 83 (5),365-366頁 1999/04
論文	先天性補体欠損症その臨床的特徴と遺伝子異常日本臨床免疫学会会誌 22 (2),53-62頁 1999/04
論文	High-intensity basal ganglia lesions on T1-weighted images in two toddlers with elevated blood manganese with portosystemic shunts NEURORADIOLOGY 41 (3),195-198頁 1999/03
論文	Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 96 (6),3132-3136頁 1999/03
論文	Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 96 (6),3132-3136頁 1999/03
論文	Cutting edge: Dominant effect of Ile50Val variant of the human IL-4 receptor alpha-chain in IgE synthesis JOURNAL OF IMMUNOLOGY 162 (3),1227-1231頁 1999/02
論文	Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan JOURNAL OF HUMAN GENETICS 44 (2),109-111頁 1999
論文	Novel polymorphism in the 5 '-untranslated region of the interleukin-4 gene JOURNAL OF HUMAN GENETICS 44 (5),352-353頁 1999
論文	Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib HUMAN GENETICS 103 (4),493-496頁 1998/10
論文	High frequency of fusion transcripts of exon 11 and exon 4/5 in AF-4 gene is observed in cord blood, as well as leukemic cells from infant leukemia patients with t(4;11)(q21;q23) LEUKEMIA 12 (9),1398-1403頁 1998/09
論文	非血縁臍帯血幹細胞移植を施行したムコ多糖症I型(Hurler syndrome)の1症例日本小児血液学会雑誌 12 (4),233-233頁 1998/08
論文	Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency HUMAN GENETICS 102 (6),605-610頁 1998/06
論文	Prevention of hypoglycaemia in a patient with type Ib glycogen storage disease by an amylase (alpha-glucosidase) inhibitor ACTA PAEDIATRICA 87 (5),595-598頁 1998/05
論文	Assignment of glucose 6-phosphate translocase (G6PT1) to human chromosome band 11q23.3 by in situ hybridization CYTOGENETICS AND CELL GENETICS 83 (1-2),50-51頁 1998
論文	Assignment of glucose 6-phosphate translocase (G6PT1) to human chromosome band 11q23.3 by in situ hybridization CYTOGENETICS AND CELL GENETICS 83 (1-2),50-51頁 1998
論文	An asymptomatic infant with isolated 3-methylcrotonyl coenzyme A carboxylase deficiency detected by newborn screening for maple syrup urine disease EUROPEAN JOURNAL OF PEDIATRICS 156 (9),713-715頁 1997/09
論文	An asymptomatic infant with isolated 3-methylcrotonyl coenzyme A carboxylase deficiency detected by newborn screening for maple syrup urine disease EUROPEAN JOURNAL OF PEDIATRICS 156 (9),713-715頁 1997/09
論文	Significance of the conserved amino acid sequence for human MTH1 protein with antimutator activity NUCLEIC ACIDS RESEARCH 25 (6),1170-1176頁 1997/03
論文	Fluid attenuated inversion recovery (FLAIR)法によるMRIが早期診断に有用であった急性脳脊髄炎の一例. 小児科臨床 50,368-372頁 1997
論文	Three-dimensional structure of a DNA repair enzyme, 3-methyladenine DNA glycosylase II, from Escherichia coli CELL 86 (2),311-319頁 1996/07
論文	Requirement for two conserved cysteine residues in the Ada protein of Escherichia coli for transactivation of the ada promoter MOLECULAR & GENERAL GENETICS 250 (5),523-532頁 1996/03
論文	MOUSE METHYLTRANSFERASE FOR REPAIR OF O-6-METHYLGUANINE AND O-4-METHYLTHYMINE IN DNA CARCINOGENESIS 16 (7),1595-1602頁 1995/07
論文	ＤＮＡ修復酵素の突然変異と発癌抑制機構. Molecular Medicine 32 (3),292-299頁 1995
論文	REQUIREMENT OF THE PRO-CYS-HIS-ARG SEQUENCE FOR O-6 METHYLGUANINE-DNA METHYLTRANSFERASE ACTIVITY REVEALED BY SATURATION MUTAGENESIS WITH NEGATIVE AND POSITIVE SCREENING MOLECULAR & GENERAL GENETICS 243 (4),379-389頁 1994/05
論文	REQUIREMENT OF THE PRO-CYS-HIS-ARG SEQUENCE FOR O-6 METHYLGUANINE-DNA METHYLTRANSFERASE ACTIVITY REVEALED BY SATURATION MUTAGENESIS WITH NEGATIVE AND POSITIVE SCREENING MOLECULAR & GENERAL GENETICS 243 (4),379-389頁 1994/05