KITANAKA Sachiko 北中幸子

Researcher Number	30431638
Affiliation (based on the past Project Information) *help	2020 – 2021: 東京大学, 医学部附属病院, 病院診療医(出向) 2018 – 2019: 東京大学, 医学部附属病院, 登録診療員 2009 – 2017: The University of Tokyo, 医学部附属病院, 准教授 2007 – 2008: Yamagata University, School of Medicine, Assistant Professor 2006: 山形大学, 医学部, 非常勤講師
Review Section/Research Field	Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related Except Principal Investigator Pediatrics
Keywords	Principal Investigator 低身長 / FAM111A / Kenny-Caffey症候群 / MRP2 / HNF-1β / ビタミンD受容体 / 遺伝子多型 / ゲノム / 疾患感受性遺伝子 / くる病 … More / ビタミンD欠乏症 / 骨分化 / 軟骨分化 / 骨伸長 / Kenny-Caffey 症候群 / osteocraniostenosis / Kenny-Caffey 症候群2型 / 遺伝子改変マウス / 軟骨内骨化 / Osteocraniostenosis / 疾患特異的iPS 細胞 / 疾患特異的iPS細胞 / 副甲状腺機能低下症 / functional analysis / familial / transcriptional activity / IGF-1 / insulin / diabetes mellitus / 胆汁うっ滞 / 子宮内発育不全 / MPR2 / 変異体機能解析 / 家族性 / 転写活性 / IGF-I / インスリン / 糖尿病 / 発症機序 / モデル動物 / 代謝酵素 … More Except Principal Investigator ゲノムワイド解析 / 遺伝子 / 先天性奇形症候群 / 成長障害 / 軟骨分化 / 骨代謝 / カルシウム・リン代謝 / 男性先天性中枢性性腺機能低下症 / 変異機能解析 / 治療効果 / 少子化対策 / 不妊 / 変異解析 / 性腺補充療法 / 次世代シーケンサー解析 / 男性先天性中枢性性腺機能 / 男性性腺機能低下症 / 治療ガイドライン / rFSH先行療法 / 低ゴナドトロピン性性腺機能低下症 / ゴナドトロピン療法 / 遺伝子解析 / 妊孕性獲得 / 小児内分泌学 Less

Mechanism of bone and cartilage proliferation by a novel bone elongation factor FAM111APrincipal Investigator
- Principal Investigator
  
  Kitanaka Sachiko
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  The University of Tokyo
Analysis of the mechanism of bone elongation using disease-specific iPS cellsPrincipal Investigator
- Principal Investigator
  
  Kitanaka Sachiko
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  The University of Tokyo
FAM111Aの骨成長、ミネラル代謝における役割の解明
- Principal Investigator
  
  磯島豪
- Project Period (FY)
  2015 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Teikyo University
  The University of Tokyo
Analysis of a novel factor associated with short stature and application to therapyPrincipal Investigator
- Principal Investigator
  
  Kitanaka Sachiko
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  The University of Tokyo
Establishment of new diagnostic methods and therapeutic guidelines for congenital male hypogonadotropic hypogonadism.
- Principal Investigator
  
  SATO NAOKO
- Project Period (FY)
  2012 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  The University of Tokyo
  National Research Institute for Child Health and Development
Exploring for the causative gene of Kenny-Caffey syndrome type 2
- Principal Investigator
  
  ISOJIMA Tsuyoshi
- Project Period (FY)
  2012 – 2013
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  The University of Tokyo
Association of vitamin D-related gene polymorphism with vitamin D deficiency.Principal Investigator
- Principal Investigator
  
  KITANAKA Sachiko
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  The University of Tokyo
Exploring for the causative gene of Kenny-Caffey syndrome type2
- Principal Investigator
  
  ISOJIMA Tsuyoshi
- Project Period (FY)
  2010 – 2011
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  The University of Tokyo
Association of gene polymorphism with vitamin D deficiency.Principal Investigator
- Principal Investigator
  
  KITANAKA Sachiko
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University
Analysis on the molecular mechanism underlying familial maturity-onset diabetes of the young.Principal Investigator
- Principal Investigator
  
  KITANAKA Sachiko
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University

[Book] 専門医による新小児内分泌疾患の治療2017
- Author(s)
  北中幸子
- Total Pages
  361
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-16K09985
[Book] 私の治療2017-2018年度版2017
- Author(s)
  北中幸子
- Total Pages
  1734
- Publisher
  日本医事新報社
- Data Source
  KAKENHI-PROJECT-16K09985
[Book] 小児疾患ガイドライン－最新の診療指針第3版2016
- Author(s)
  北中幸子
- Total Pages
  670
- Publisher
  総合医学社
- Data Source
  KAKENHI-PROJECT-26670494
[Book] 難病事典2015
- Author(s)
  北中幸子
- Total Pages
  511
- Publisher
  学研メディカル秀潤社
- Data Source
  KAKENHI-PROJECT-26670494
[Book] 小児科研修医ノート2014
- Author(s)
  北中幸子
- Total Pages
  539
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-26670494
[Book] 今日の治療指針2014　くる病2014
- Author(s)
  北中幸子
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-23591489
[Book] 今日の治療指針20142014
- Author(s)
  北中幸子
- Total Pages
  1900
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-26670494
[Book] 南山堂医学辞典2012
- Author(s)
  北中幸子
- Total Pages
  3160
- Publisher
  南山堂
- Data Source
  KAKENHI-PROJECT-23591489
[Book] イラストでわかる子どもの病気ナビゲーター2012
- Author(s)
  北中幸子
- Total Pages
  184
- Publisher
  メディカルレビュー社
- Data Source
  KAKENHI-PROJECT-23591489
[Book] 小児薬用量2012
- Author(s)
  北中幸子
- Total Pages
  539
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-23591489
[Book] 爪膝蓋骨症候群(nail-patella症候群)別冊日本臨床腎臓症候群(第2版)上2012
- Author(s)
  北中幸子
- Publisher
  日本臨牀社
- Data Source
  KAKENHI-PROJECT-23591489
[Book] 小児科診療ガイドライン　思春期早発症2011
- Author(s)
  北中幸子
- Total Pages
  558
- Publisher
  総合医学社
- Data Source
  KAKENHI-PROJECT-23591489
[Book] 思春期早発症小児科診療ガイドライン2011
- Author(s)
  北中幸子
- Publisher
  総合医学社
- Data Source
  KAKENHI-PROJECT-23591489
[Book] 小児科学　第10版　成長障害と内分泌疾患2011
- Author(s)
  北中幸子
- Total Pages
  1141
- Publisher
  文光堂
- Data Source
  KAKENHI-PROJECT-23591489
[Book] 成長障害と内分泌疾患小児科学第10版2011
- Author(s)
  北中幸子(五十嵐隆編集)
- Publisher
  文光堂、東京
- Data Source
  KAKENHI-PROJECT-23591489
[Book] 新生児内分泌学カルシウム代謝小児内分泌学(日本小児内分泌学会編)2009
- Author(s)
  北中幸子
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-20591215
[Book] 小児の骨の発達とその異常性2008
- Author(s)
  北中幸子
- Total Pages
  320
- Publisher
  ビタミンD依存性くる病
- Data Source
  KAKENHI-PROJECT-20591215
[Book] メディカルサイエンスインターナショナル2008
- Author(s)
  北中幸子
- Total Pages
  151
- Publisher
  成長障害と体重増加不良、低身長と身長増加不良一目でわかる小児科学第2版五十嵐隆監訳
- Data Source
  KAKENHI-PROJECT-20591215
[Book] ビタミンD依存性くる病「小児の骨の発達とその異常性」(藤枝憲二、田中弘之編)2008
- Author(s)
  北中幸子
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-20591215
[Book] Annual Review 腎臓 20072007
- Author(s)
  北中幸子
- Total Pages
  308
- Publisher
  中外医学社
- Data Source
  KAKENHI-PROJECT-18599001
[Book] Annual ReView 腎臓 20072007
- Author(s)
  北中幸子
- Publisher
  中外医学社
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome2020
- Author(s)
  Harita Yutaka、Urae Seiya、Akashio Riki、Isojima Tsuyoshi、Miura Kenichiro、Yamada Takeshi、Yamamoto Katsusuke、Miyasaka Yasunori、Furuyama Masayuki、Takemura Tsukasa、Gotoh Yoshimitsu、Takizawa Hideki、Tamagaki Keiichi、Ozawa Atsushi、Ashida Akira、Hattori Motoshi、Oka Akira、Kitanaka Sachiko
- Journal Title
  
  European Journal of Human Genetics
  
  Volume: 28 Issue: 10 Pages: 1414-1421
- DOI
  10.1038/s41431-020-0655-3
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08246, KAKENHI-PROJECT-18K07830, KAKENHI-PROJECT-18K07857, KAKENHI-PROJECT-18K07872
[Journal Article] 思春期のからだの変化2020
- Author(s)
  高橋千恵、北中幸子
- Journal Title
  
  はげみ
  
  Volume: 395 Pages: 4-11
- Data Source
  KAKENHI-PROJECT-19K08246
[Journal Article] Novel de novo MYRF gene mutation: A possible cause for several clinically overlapping syndromes2020
- Author(s)
  Tanaka Hiroyuki、Isojima Tsuyoshi、Kimura Yuki、Inuzuka Ryo、Kitanaka Sachiko
- Journal Title
  
  Congenital Anomalies
  
  Volume: 61 Issue: 2 Pages: 68-69
- DOI
  10.1111/cga.12402
- NAID
  210000158651
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08246
[Journal Article] Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route.2019
- Author(s)
  Abali S, Tamura M, et al
- Journal Title
  
  J Pediatr Endocrinol Metab
  
  Volume: 33 Issue: 4 Pages: 557-562
- DOI
  10.1515/jpem-2019-0466
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08246
[Journal Article] Familial dysalbuminemic hyperthyroxinemia in a 12-year-old girl.2019
- Author(s)
  Oda Y, Tamura M, Kitanaka S
- Journal Title
  
  Pediatr Int.
  
  Volume: 61 Issue: 5 Pages: 520-522
- DOI
  10.1111/ped.13839
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08246
[Journal Article] A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B2018
- Author(s)
  Mukai Miho、Fujita Harumi、Umegaki-Arao Noriko、Sasaki Takashi、Yasuda-Sekiguchi Fumiyo、Isojima Tsuyoshi、Kitanaka Sachiko、Amagai Masayuki、Kubo Akiharu
- Journal Title
  
  Journal of Dermatological Science
  
  Volume: 90 Issue: 1 Pages: 90-93
- DOI
  10.1016/j.jdermsci.2017.12.010
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07887, KAKENHI-PROJECT-16K09985, KAKENHI-PROJECT-15K09782
[Journal Article] Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan2018
- Author(s)
  Kubota Takuo、Nakayama Hirofumi、Kitaoka Taichi、Nakamura Yosikazu、Fukumoto Seiji、Fujiwara Ikuma、Hasegawa Yukihiro、Ihara Kenji、Kitanaka Sachiko、et al.
- Journal Title
  
  Endocr J
  
  Volume: 65 Issue: 6 Pages: 593-599
- DOI
  10.1507/endocrj.EJ18-0008
- NAID
  130007411673
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09985
[Journal Article] Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy2018
- Author(s)
  Akiyama T, Kubota T, Ozono K, Michigami T, Kobayashi D, Takeyari S, Sugiyama Y, Noda M, Harada D, Namba N, Suzuki A, Utoyama M, Kitanaka S, Uematsu M, Mitani Y, Matsunami K, Takishima S, Ogawa E, Kobayashi K
- Journal Title
  
  Mol Genet Metab
  
  Volume: 125 Issue: 1-2 Pages: 174-180
- DOI
  10.1016/j.ymgme.2018.07.006
- NAID
  120006845807
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09622, KAKENHI-PROJECT-16K09985
[Journal Article] Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia2017
- Author(s)
  Tamura Mayuko、Ishizawa Michiyasu、Isojima Tsuyoshi、Ozen Samim、Oka Akira、Makishima Makoto、Kitanaka Sachiko
- Journal Title
  
  Sci Rep
  
  Volume: 7 Issue: 1 Pages: 5102-5102
- DOI
  10.1038/s41598-017-05081-x
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09985, KAKENHI-PROJECT-16J04675, KAKENHI-PROJECT-26461621
[Journal Article] Vitamin D-deficient rickets in Japan.2017
- Author(s)
  47. Itoh M, Tomio J, Toyokawa S, Tamura M, Isojima T, Kitanaka S, Kobayashi Y
- Journal Title
  
  Glob Pediatr Health
  
  Volume: 4 Pages: 2333794-2333794
- DOI
  10.1177/2333794x17711342
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09985, KAKENHI-PROJECT-16J04675
[Journal Article] Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.2017
- Author(s)
  Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M
- Journal Title
  
  Pediatr Nephrol
  
  Volume: 印刷中
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26670494
[Journal Article] Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome, showing 46,XY disorder of sex development.2017
- Author(s)
  45. Tamura M, Isojima T, Kasama T, Mafune R, Shimoda K, Yasudo H, Tanaka H, Takahashi C, Oka A, Kitanaka S
- Journal Title
  
  Hum Genome Var
  
  Volume: 4 Issue: 1 Pages: 17015-17015
- DOI
  10.1038/hgv.2017.15
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09985, KAKENHI-PROJECT-16J04675
[Journal Article] Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.2017
- Author(s)
  46. Nakata T, Ishida R, Mihara Y, Fujii A, Inoue Y, Kusaba T, Isojima T, Harita Y, Kanda C, Kitanaka S, Tamagaki K
- Journal Title
  
  BMC Nephrol
  
  Volume: 18 Issue: 1 Pages: 100-100
- DOI
  10.1186/s12882-017-0516-7
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K09985
[Journal Article] カルシウムを多く摂取すると身長が伸びる？2016
- Author(s)
  北中幸子
- Journal Title
  
  小児内科
  
  Volume: 48 Pages: 918-919
- Data Source
  KAKENHI-PROJECT-26670494
[Journal Article] nail-patella症候群（爪膝蓋骨症候群）2016
- Author(s)
  北中幸子、張田豊
- Journal Title
  
  小児科診療
  
  Volume: 79増 Pages: 309-309
- Data Source
  KAKENHI-PROJECT-26670494
[Journal Article] ビタミンD依存症の病因と治療2016
- Author(s)
  北中幸子
- Journal Title
  
  Clinical Calcium
  
  Volume: 26 Pages: 277-283
- Data Source
  KAKENHI-PROJECT-26670494
[Journal Article] ビタミンD依存性くる病／骨軟化症2016
- Author(s)
  北中幸子
- Journal Title
  
  最新医学
  
  Volume: 72 Pages: 1943-1948
- Data Source
  KAKENHI-PROJECT-26670494
[Journal Article] Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy2016
- Author(s)
  Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M
- Journal Title
  
  Pediatr Nephrol
  
  Volume: 印刷中
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09985
[Journal Article] Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance.2015
- Author(s)
  Isojima T, Ishizawa M, Yoshimura K, Tamura M, Hirose S, Makishima M, Kitanaka S.
- Journal Title
  
  Bone Reports
  
  Volume: 2 Pages: 68-73
- DOI
  10.1016/j.bonr.2015.05.001
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26670494
[Journal Article] Mineral status of premature infants in early life and linear growth at age three.2015
- Author(s)
  Isojima T, Kushima R, Goishi K, Tsuchida S, Watanabe T, Takahashi N, Kitanaka S
- Journal Title
  
  Pediatr Int
  
  Volume: 57 Issue: 5 Pages: 864-9
- DOI
  10.1111/ped.12657
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26670494
[Journal Article] Detection of hereditary 1,25-hydroxyvitamin D-resistant rickets caused by uniparental disomy of chromosome 12 using genome-wide single nucleotide polymorphism array.2015
- Author(s)
  Tamura M, Isojima T, Kawashima M, Yoshida H, Yamamoto K, Kitaoka T, Namba N, Oka A, Ozono K, Tokunaga K, Kitanaka S
- Journal Title
  
  PLoS One
  
  Volume: 10 Issue: 7 Pages: e0131157-e0131157
- DOI
  10.1371/journal.pone.0131157
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26670494
[Journal Article] Kenny Caffey症候群と類縁疾患2015
- Author(s)
  磯島豪、北中幸子
- Journal Title
  
  日本臨床
  
  Volume: 73 Pages: 1959-1964
- Data Source
  KAKENHI-PROJECT-26670494
[Journal Article] Successful intermittent intravenous calcium treatment via the peripheral route in a patient with hereditary vitamin D-resistant rickets and alopecia.2015
- Author(s)
  Ersoy B, Kiremitci S, Isojima T, Kitanaka S
- Journal Title
  
  Horm Res Paediatr.
  
  Volume: 83 Issue: 1 Pages: 67-72
- DOI
  10.1159/000367711
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26670494
[Journal Article] LMX1B Mutation with Residual Transcriptional Activity as a Cause of Isolated Glomerulopathy2014
- Author(s)
  Isojima T, Kitanaka S et al
- Journal Title
  
  Nephrol Dial Transplant
  
  Volume: 29 Pages: 81-8
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] VDR異常症2014
- Author(s)
  北中幸子
- Journal Title
  
  ホルモンと臨床
  
  Volume: 60 Pages: 571-576
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] Validity of a self-administered diet history questionnaire for estimating vitamin D intakes of Japanese pregnant women.2014
- Author(s)
  Shiraishi M, Haruna M, Matsuzaki M, Murayama R, Kitanaka S, Sasaki S.
- Journal Title
  
  Matern Child Nutr.
  
  Volume: xx Issue: 4 Pages: 525-536
- DOI
  10.1111/mcn.12063
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type22014
- Author(s)
  Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S
- Journal Title
  
  J Bone Miner Res
  
  Volume: 29 Pages: 992-8
- Data Source
  KAKENHI-PROJECT-24791042
[Journal Article] LMX1B Mutation with Residual Transcriptional Activity as a Cause of Isolated Glomerulopathy.2014
- Author(s)
  Isojima T, Harita Y, Furuyama M, Sugawara N, Ishizuka K, Horita S, Kajiho Y, Miura K, Igarashi T, Hattori M, Kitanaka S
- Journal Title
  
  Nephrol Dial Transplant
  
  Volume: 29 Issue: 1 Pages: 81-8
- DOI
  10.1093/ndt/gft359
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591489, KAKENHI-PROJECT-24390259, KAKENHI-PROJECT-24591569, KAKENHI-PROJECT-25461617, KAKENHI-PROJECT-26670494
[Journal Article] A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 22013
- Author(s)
  Isojima T, Kitanaka S et al
- Journal Title
  
  J Bone Miner Res
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in children.2013
- Author(s)
  Kitanaka S, Isojima T, Takaki M, Numakura C, Hayasaka K, Igarashi T
- Journal Title
  
  Endocr J
  
  Volume: 59 Pages: 1007-1014
- NAID
  10031146710
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] くる病2013
- Author(s)
  北中幸子
- Journal Title
  
  小児科学レクチャー
  
  Volume: 3 Pages: 484-489
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] MLL2 and KDM6A Mutations in Patient with Kabuki Syndrome.2013
- Author(s)
  Miyake N, Kitanaka S, et al.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 161 Pages: 2234-43
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] MLL2 and KDM6A Mutations in Patient with Kabuki Syndrome2013
- Author(s)
  Miyake N, Kitanaka S, et al
- Journal Title
  
  American Journal of Medical Genetics Am J Med Genet A
  
  Volume: 161 Pages: 2234-43
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] A recurrent de novo FAM111A mutation causes Kenny–Caffey syndrome type 2.2013
- Author(s)
  Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, and Kitanaka S.
- Journal Title
  
  J Bone Mineral Res
  
  Volume: 29 Issue: 4 Pages: 992-998
- DOI
  10.1002/jbmr.2091
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-ORGANIZER-22129001, KAKENHI-PLANNED-22129008, KAKENHI-PROJECT-23591489, KAKENHI-PROJECT-24791042, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-26670494, KAKENHI-PROJECT-221S0002
[Journal Article] Endothelin Regulates Neural Crest Deployment and Fate to Form Great Vessels through Dlx5/Dlx6- independent Mechanisms2013
- Author(s)
  Kim KS, Kitanaka S, et al
- Journal Title
  
  Mech Dev
  
  Volume: 130 Pages: 553-66
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] ビタミンD欠乏症2013
- Author(s)
  北中幸子
- Journal Title
  
  小児内科
  
  Volume: 45 Pages: 1658-1661
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] Validity of a self-administered diet history questionnaire for estimating vitamin D intakes of Japanese pregnant women2013
- Author(s)
  Shiraishi M, Kitanaka S , et al
- Journal Title
  
  Matern Child Nutr
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] Updates on Rickets and Osteomalacia. Vitamin D dependency.2013
- Author(s)
  Kitanaka S
- Journal Title
  
  Clin Calcium
  
  Volume: 23 Pages: 1437-1443
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] Updates on Rickets and Osteomalacia. Vitamin D dependency2013
- Author(s)
  Kitanaka S
- Journal Title
  
  Clin Calcium
  
  Volume: 23 Pages: 1437-1443
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] Cephalhematoma and petechial rashes associated with acute parvovirus B19 infection : a case report2013
- Author(s)
  Takeuchi M, Kitanaka S et al
- Journal Title
  
  BMC Infect Dis
  
  Volume: 13 Pages: 465-465
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] Growth hormone deficiency: A possible complication of glucose transporter 1 deficiency?2012
- Author(s)
  Nakagama Y, Isojima T, Kitanaka S et al.
- Journal Title
  
  Acta Peadiatrica
  
  Volume: Epub
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] 小児期から成人期へ：GH分泌不全症の移行期医療を考える2012
- Author(s)
  7. 島津章、香川二郎、都研一、高橋裕、堀川玲子、高野幸路、中村明枝、沼倉周彦、北中幸子、長崎啓祐、河野斉、西美和
- Journal Title
  
  内分泌・糖尿病・代謝内科
  
  Volume: 35 Pages: 275-283
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] 爪膝蓋骨症候群（nail-patella症候群）2012
- Author(s)
  北中幸子
- Journal Title
  
  別冊日本臨床　腎臓症候群
  
  Volume: 別冊 Pages: 332-6
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] Growth hormone deficiency : A possible complication of glucose transporter 1 deficiency?2012
- Author(s)
  Nakagama Y, Isojima T, Kitanaka S, et al
- Journal Title
  
  Acta Peadiatrica
  
  Volume: 101
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] くる病の診断と治療2012
- Author(s)
  北中幸子
- Journal Title
  
  小児内科
  
  Volume: 44 Pages: 583-587
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] Growth hormone deficiency: A possible complication of glucose transporter 1 deficiency?2012
- Author(s)
  Nakagama Y, Isojima T, Mizuno Y, Takahashi N, Kitanaka S, Igarashi T
- Journal Title
  
  Acta Peadiatrica
  
  Volume: 101 Issue: 6
- DOI
  10.1111/j.1651-2227.2012.02606.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] クローズアップ内分泌疾患くる病の診断と治療2012
- Author(s)
  北中幸子
- Journal Title
  
  小児内科
  
  Volume: 44 Pages: 583-587
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] VDR異常症(ビタミンD依存性くる病2型)2012
- Author(s)
  北中幸子
- Journal Title
  
  ホルモンと臨床
  
  Volume: 60 Pages: 571-576
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in children2012
- Author(s)
  Kitanaka S, Isojima T, Takaki M, Numakura C, Hayasaka K, Igarashi T
- Journal Title
  
  Endocr J
  
  Volume: 59 Pages: 1007-1014
- NAID
  10031146710
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] 乳幼児のビタミンD欠乏2011
- Author(s)
  北中幸子
- Journal Title
  
  綜合臨床
  
  Volume: 60 Pages: 306-307
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] 骨を丈夫にするためには～骨を丈夫にする運動はあるのか～2011
- Author(s)
  北中幸子
- Journal Title
  
  チャイルドヘルス
  
  Volume: 14 Pages: 1034-1037
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] Painful thyroiditis and subsequent atrophic hypothyroidism after cord blood transfusion2011
- Author(s)
  Makita N, Isojima T, Kitanaka S, et al
- Journal Title
  
  Thyroid
  
  Volume: 10 Pages: 1157-8
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] 乳幼児のビタミンD欠乏診断の指針・治療の指針2011
- Author(s)
  北中幸子
- Journal Title
  
  綜合臨床 60
  
  Pages: 306-307
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] 乳幼児のビタミンD欠乏診断の指針・治療の指針2011
- Author(s)
  北中幸子
- Journal Title
  
  綜合臨床
  
  Volume: 60 Pages: 306-307
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] 骨を丈夫にするためには～骨を丈夫にする運動はあるのか～2011
- Author(s)
  北中幸子
- Journal Title
  
  チャイルドヘルス
  
  Volume: 14 Pages: 1034-1037
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] Painful thyroiditis and subsequent atrophic hypothyroidism after cord blood transfusion.2011
- Author(s)
  Makita N, Isojima T, Kitanaka S et al.
- Journal Title
  
  Thyroid
  
  Volume: 10 Pages: 1157-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] 乳幼児のビタミンD欠乏2011
- Author(s)
  北中幸子
- Journal Title
  
  綜合臨床
  
  Volume: 60 Pages: 306-307
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] 骨を丈夫にするためには2011
- Author(s)
  北中幸子
- Journal Title
  
  チャイルドヘルス
  
  Volume: １４ Pages: 1034-7
- Data Source
  KAKENHI-PROJECT-23591489
[Journal Article] 骨を丈夫にするためには～骨を丈夫にする運動はあるのか～2011
- Author(s)
  北中幸子
- Journal Title
  
  チャイルドヘルス 14
  
  Pages: 1034-1037
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] 小児薬用量の基本的な考え方2010
- Author(s)
  北中幸子
- Journal Title
  
  小児内科
  
  Volume: 42増 Pages: 12-15
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.2010
- Author(s)
  Numakura C, Kitanaka S, Kato M, Ishikawa S, Hamamoto Y, Katsushima Y, Kimura T, Hayasaka K.
- Journal Title
  
  Am J Med Genet Part A 152A
  
  Pages: 2355-2359
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] 遺伝性くる病2010
- Author(s)
  北中幸子
- Journal Title
  
  Clinical Calcium
  
  Volume: 20 Pages: 1238-1244
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] 遺伝性くる病2010
- Author(s)
  北中幸子
- Journal Title
  
  Clinical Calcium 20
  
  Pages: 1238-1244
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] 幼児の低身長2010
- Author(s)
  北中幸子
- Journal Title
  
  小児科 51
  
  Pages: 1469-1474
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] 成長障害2010
- Author(s)
  北中幸子
- Journal Title
  
  小児科学レビュー(総合医学社) 2010
  
  Pages: 147-152
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] 幼児の低身長2010
- Author(s)
  北中幸子
- Journal Title
  
  小児科
  
  Volume: 51 Pages: 1469-1474
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.2010
- Author(s)
  Numakura C, Kitanaka S, et al.
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 152A Pages: 2355-2359
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] Nail-patella症候群(爪膝蓋骨症候群)2009
- Author(s)
  北中幸子
- Journal Title
  
  小児科診療 72増
  
  Pages: 386-386
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article]2009
- Author(s)
  北中幸子
- Journal Title
  
  小児内分泌学(診断と治療社)
  
  Pages: 141-144
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] Juvenile pustular psoriasis associated with steroid withdrawal syndromedue to topical corticosteroid2008
- Author(s)
  Saeki H, Kitanaka S, et.al.
- Journal Title
  
  Journal of Dermatology 35
  
  Pages: 601-603
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] Role of HNF-1・ and HNF-1・ on insulin, IGF-1, and other potential target genes.2008
- Author(s)
  Kitanaka S.
- Journal Title
  
  Expert Rev.Endocrinol.Metab. 3(4)
  
  Pages: 441-452
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] Role of hepatocyte nuclear factor-1αand HNF-1βon insulin, IGF-1, and other potential target genes.2008
- Author(s)
  Kitanaka, S
- Journal Title
  
  Expert Review of Endocrinology & Metabolism (In press)
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] Role of HNF-1a and HNF-1b on insulin, IGF-1, and other potential targetgenes2008
- Author(s)
  Kitanaka S
- Journal Title
  
  Expert Rev. Endocrinol. Metab 3
  
  Pages: 441-452
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] Hepatocyte nuclear factor-1β(HNF-1β)2007
- Author(s)
  北中幸子
- Journal Title
  
  腎と透析 63
  
  Pages: 563-565
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] Regulation of human insulin, IGF-I, and multidrug resistance protein 2 promoter activity by hepatocyte nuclear factor (HNF)-1・ and HNF-1・ and the abnormality of HNF-1・ mutants.2007
- Author(s)
  Kitanaka S, Sato U, Igarashi T.
- Journal Title
  
  Journal of Endocrinology 192
  
  Pages: 141-147
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] 爪膝蓋骨症候群2007
- Author(s)
  北中幸子
- Journal Title
  
  日本医師会雑誌特別号腎・泌尿器診療マニュアル 136
  
  Pages: 224-225
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] Regulation of human insulin, IGF-I, and multidrug resistance protein 2 promoter activity by hepatocyte nuclear factor (HNF)-1β and HNF-1α and the abnorma lity of HNF-1β mutants.2007
- Author(s)
  Kitanaka, S, et. al.
- Journal Title
  
  J Endocrinol 192
  
  Pages: 142-147
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] Regulation of human insulin, IGF-I, and multidrug resistance protein 2 promoter activity by hepatocyte nuclear factor(HNF)-1βand HNF-1α and the abnormality of HNF-1β mutants.2007
- Author(s)
  S. Kitanaka, et. al.
- Journal Title
  
  J Endocrinol 192
  
  Pages: 141-147
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] Regulation of human insulin, IGF-I, and multidrug resistance protein 2 promoter activity by hepatocyte nuclear factor(HNF)-1β and HNF-lα and the abnormality of HNF-1β mutants.2007
- Author(s)
  Kitanaka S, et. al.
- Journal Title
  
  J Endocrinol 192
  
  Pages: 142-147
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels2006
- Author(s)
  Kitanaka S, et. al.
- Journal Title
  
  J Hum Genet 51
  
  Pages: 379-382
- NAID
  10017479993
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] 腎嚢胞・糖尿病症候群-腎尿路の発生異常における hepatocyte nuclear factor・1β(HNF・1β)2006
- Author(s)
  北中幸子
- Journal Title
  
  腎と透析 61
  
  Pages: 871-874
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] ビタミンD欠乏性くる病とビタミンD依存性くる病2006
- Author(s)
  北中幸子
- Journal Title
  
  小児内科増刊小児疾患の診断治療基準第3版 38増
  
  Pages: 188-189
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] Nail-Patella症候群2006
- Author(s)
  北中幸子
- Journal Title
  
  腎と透析増刊腎/尿路疾患の診療指針 61増
  
  Pages: 364-366
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.2006
- Author(s)
  Kitanaka S, et al.
- Journal Title
  
  Journal of Human Genetics 51
  
  Pages: 379-382
- NAID
  10017479993
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.2006
- Author(s)
  Kitanaka, S, et. al.
- Journal Title
  
  J Hum Genet 51
  
  Pages: 379-382
- NAID
  10017479993
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.2006
- Author(s)
  Hishinuma A, Kitanaka S, et al.
- Journal Title
  
  The Journal of Clinical Endocrinology and Metabolism 91
  
  Pages: 3100-3104
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] Role of hepatocyte nuclear factor-1α and HNF-1β on insulin, IGF-1, and other potential target genes
- Author(s)
  Kitanaka S.
- Journal Title
  
  Expert Review of Endocrinology&Metabolism (in press)
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18599001
[Presentation] 発達遅滞・体重増加不良を主訴に受診し、乳児特発性高Ca血症の診断に至った9か月女児の1例2021
- Author(s)
  根本千裕、成瀬裕紀、松戸孝博、田中裕之、北中幸子、森雅人、平本龍吾
- Organizer
  第54回日本小児内分泌学会
- Data Source
  KAKENHI-PROJECT-19K08246
[Presentation] 特発性乳児高カルシウム血症2型における新規変異の機能解析2021
- Author(s)
  藤澤佑介、長井翠、田中裕之、田村麻由子、高橋千恵、鶴岡洋子、中村智子、徳弘悦郎、加藤元博、北中幸子
- Organizer
  第54回日本小児内分泌学会
- Data Source
  KAKENHI-PROJECT-19K08246
[Presentation] 臨床的にMeacham症候群と診断した症例に認めたMYRF新規変異.2021
- Author(s)
  田中裕之、磯島豪、木村有希、犬塚亮、北中幸子
- Organizer
  第54回日本小児内分泌学会
- Data Source
  KAKENHI-PROJECT-19K08246
[Presentation] 子どものビタミンD不足とその予防2020
- Author(s)
  北中幸子
- Organizer
  第661回日本小児科学会東京都地方会講和会
- Invited
- Data Source
  KAKENHI-PROJECT-19K08246
[Presentation] 超低出生時のため早期から高Ca血症に気づかれた家族性低カルシウム尿性高カルシウム血症(FHH)の一例2019
- Author(s)
  寺田有美子, 高橋千恵, 藤澤佑介, 田中裕之, 北中幸子
- Organizer
  第53回小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-19K08246
[Presentation] Kenny-Caffey症候群2型のFAM111A新規変異I310Lの病原性解析2019
- Author(s)
  藤澤佑介, 田中裕之, 磯島豪, 野口篤子, 高橋郁子, 高橋勉, 北中幸子
- Organizer
  第53回小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-19K08246
[Presentation] 機能未知蛋白FAM111Aによる低身長発症機構の解明.2019
- Author(s)
  田中裕之, 田村麻由子, 藤澤佑介, 寺田有美子, 高橋千恵, 磯島豪, 岡明, 齋藤琢, 北中幸子
- Organizer
  第53回小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-19K08246
[Presentation] 副甲状腺機能低下症に発達障害と顔貌異常・眼の異常を合併した一例.2019
- Author(s)
  重沢郁美, 永井聡, 半田喬久, 枝川幸子, 田中裕之, 北中幸子, 吉岡成人
- Organizer
  第92回内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-19K08246
[Presentation] 低リン血症性くる病患者におけるFGF23蛋白プロセシング抵抗性をきたす新規変異2018
- Author(s)
  188.田中裕之、田村麻由子、高橋千恵、武藤未来、木下祐加、伊東伸明、岡明、北中幸子.
- Organizer
  第91回日本内分泌学会学術総会
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] VDDR1患者に認めた1α水酸化酵素活性低下をきたす5種類の新規CYP27B1変異2018
- Author(s)
  193.田中裕之、高橋千恵、Elham Al Amiri, 勝又規行、榊利之、岡明、北中幸子
- Organizer
  第52回日本小児内分泌学会
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] Trend of vitamin D deficiency/osteomalacia among Japanese adults from 2005 to 2014, a longitudinal analysis using health insurance claims.2018
- Author(s)
  Mitsuko Itoh, Jun Tomio, Satoshi Toyokawa, Sachiko Kitanaka, Yasuki Kobayashi.
- Organizer
  日本衛生学会
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] The mechanism of genotype-phenotype correlation suggested from genetic analyses of GPS and SBBYSS patients.2018
- Author(s)
  192.Hiroyuki Tanaka, Ayu Yoneda, Chie Takahashi, Yukiko Kuroda, Hiroki Takehara, Satoshi Okada, Akira Oka, Sachiko Kitanaka.
- Organizer
  Pediatric Endocrine Society Meeting 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] 子どものビタミンD不足は増えているのか？-紫外線対策の際に注意すべきこと－2018
- Author(s)
  北中幸子
- Organizer
  第41回日本小児皮膚科学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] 骨成長におけるFAM111Aを中心とした分子メカニズムの解明2017
- Author(s)
  磯島　豪、田中　裕之、斉藤　琢、北中　幸子
- Organizer
  第51回小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09612
[Presentation] 日本人小児の血中ビタミンD濃度に関する実態調査.2017
- Author(s)
  高橋千恵、田中裕之、長崎啓祐、藤原幾磨、長谷川高誠、依藤亨、井原健二、大薗恵一、北中幸子.
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] 著明な成長障害・退行・多発骨折を呈したCYP27B1新規変異を伴うビタミンD依存性くる病1型の1例2017
- Author(s)
  水野雄太、北岡寛己、田中裕之、岡田慶太、小川晃太郎、岡本陽子、神田祥一郎、安戸裕貴、張田豊、高橋千恵、岡明、北中幸子
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] Kenny-Caffey症候群2型の原因遺伝子であるFAM111Aの生体内での発現と軟骨分化への影響2017
- Author(s)
  田中　裕之、田村　麻由子、高橋　千恵、磯島　豪、齋藤　琢、岡　明、北中　幸子
- Organizer
  第51回小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09612
[Presentation] 成長・性成熟・将来の生殖能力を考慮した新しい治療指針に対する小児期MHHの長期治療経過.2017
- Author(s)
  佐藤直子、小笠原敦子、野田雅裕、吉井啓介、北中幸子、門脇弘子、田中敏章.
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] 特徴的な骨所見と副甲状腺機能低下症を伴い重篤な経過をたどったOsteocraniostenosisの1例.2017
- Author(s)
  西村尚子、加納孝真、井澤雅子、古波蔵都秋、河邊慎司、岩田直美、田中裕之、北中幸子、磯島豪、濱島崇．
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] Kenny-Caffey症候群2型の原因遺伝子であるFAM111Aの生体内での発現と軟骨分化への影響.2017
- Author(s)
  田中裕之、田村麻由子、高橋千恵、磯島豪、齋藤琢、岡明、北中幸子.
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] A novel mutation in fibroblast growth factor 23 identified in a patient with hypophosphatemic rickets prevents proteolytic cleavage.2017
- Author(s)
  Tanaka H, Tamura M, Takahashi C, Muto M, Kinoshita Y, Ito N, Oka A, Kitanaka S.
- Organizer
  10th International meeting of Pediatric Endocrinology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] A novel mutation in fibroblast growth factor 23 identified in a patient with hypophosphatemic rickets prevents proteolytic cleavage.2017
- Author(s)
  Tanaka H, Tamura M, Takahashi C, Muto M, Kinoshita Y, Ito N, Oka A, Kitanaka S
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] 出生後早期に診断し、KAT6Bの新規変異を認めたGenitopatellar syndromeの1例.2017
- Author(s)
  米田あゆ、田中裕之、高橋千恵、黒田友紀子、竹原広基、岡明、北中幸子.
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] IRUD-Pをもとにした糖原病の病型診断の変更2017
- Author(s)
  田中裕之、高橋千恵、磯島豪、岡明、北中幸子
- Organizer
  第62回日本人類遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] 周産期良性型低フォスファターゼ症に対し酵素補充療法を施行した2例の経過.2017
- Author(s)
  山口朋恵、高橋千恵、水谷和子、道上敏美、寺田有美子、千葉悠太、藤澤祐介、内木康博、北中幸子、堀川玲子
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] 子どものビタミンD不足は増えているのか？-紫外線対策の際に注意すべきこと－2017
- Author(s)
  北中幸子
- Organizer
  第41回日本小児皮膚科学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] 家族性異常アルブミン性高サイロキシン血症症例の検討.2017
- Author(s)
  小田洋一郎、田村麻由子、石井淳子、西川由衣、水野雄太、堀江豪、佐々木元、本村あい、北中幸子
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] rFSH monotherapy prior to hCG-rFSH combination therapy is an effective new treatment to achieving future fertility in adolescent patients with congenital male hypogonadotropic hypogonadism.2017
- Author(s)
  Sato N, Hosokawa A, Kitanaka S, Yoshizawa A, Noda M, Tanaka T.
- Organizer
  The Endocrine Society’s 99th annual meeting.
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] FGF23遺伝子に新規変異を認めた常染色体優性低リン血性くる病の13歳男児例.2017
- Author(s)
  武藤未来、小松なぎさ、田村麻由子、田中裕之、北中幸子．
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] Analysis of COL10A1 gene is useful to detect metaphyseal chondrodysplasia Schmid type for the differential diagnosis of bow-legs.2016
- Author(s)
  Hiroyuki Tanaka, Mayuko Tamura, Chie Takahashi, Tsuyoshi Isojima, Nobuhiko Haga, Akira Oka, Sachiko Kitanaka
- Organizer
  The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
- Place of Presentation
  国際フォーラム（東京都中央区）
- Year and Date
  2016-11-17
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] Analysis of COL10A1 gene is useful to detect metaphyseal chondrodysplasia Schmid type for the differential diagnosis of bow-legs.2016
- Author(s)
  Hiroyuki Tanaka, Mayuko Tamura, Chie Takahashi, Tsuyoshi Isojima, Nobuhiko Haga, Akira Oka, Sachiko Kitanaka.
- Organizer
  The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
- Place of Presentation
  国際フォーラム（東京都中央区）
- Year and Date
  2016-11-17
- Data Source
  KAKENHI-PROJECT-26670494
[Presentation] rFSH monotherapy prior to hCG-rFSH combination therapy is an effective new treatment to achieving future fertility in adolescent patients with congenital male hypogonadotropic hypogonadism.2016
- Author(s)
  Sato N, Hosokawa A, Kitanaka S, Yoshizawa A, Noda M, Tanaka T
- Organizer
  The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
- Place of Presentation
  国際フォーラム（東京都中央区）
- Year and Date
  2016-11-17
- Data Source
  KAKENHI-PROJECT-26670494
[Presentation] レセプトデータによる小児ビタミンD欠乏性くる病有病率の10年間の推移2016
- Author(s)
  伊藤明子、冨尾淳、田村麻由子、磯島豪、小林廉毅、北中幸子
- Organizer
  第89回日本内分泌学会
- Place of Presentation
  京都国際会議場（京都府京都市）
- Year and Date
  2016-04-21
- Data Source
  KAKENHI-PROJECT-26670494
[Presentation] rFSH monotherapy prior to hCG-rFSH combination therapy is an effective new treatment to achieving future fertility in adolescent patients with congenital male hypogonadotropic hypogonadism.2016
- Author(s)
  Sato N, Hosokawa A, Kitanaka S, Yoshizawa A, Noda M, Tanaka T
- Organizer
  The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
- Place of Presentation
  国際フォーラム（東京都中央区）
- Year and Date
  2016-11-17
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] A case with duplication of 20qter and deletion of 20pter due to maternal pericentric inversion, presenting with Silver-Russell syndrome-like phenotypes.2016
- Author(s)
  Chie Takahashi, Akie Nakamura, Mayuko Tamura, Hiroyuki Tanaka, Tsuyoshi Isojima, Akira Oka, Masayo Kagami, Sachiko Kitanaka
- Organizer
  The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
- Place of Presentation
  国際フォーラム（東京都中央区）
- Year and Date
  2016-11-17
- Data Source
  KAKENHI-PROJECT-16K09985
[Presentation] A case with duplication of 20qter and deletion of 20pter due to maternal pericentric inversion, presenting with Silver-Russell syndrome-like phenotypes.2016
- Author(s)
  Chie Takahashi, Akie Nakamura, Mayuko Tamura, Hiroyuki Tanaka, Tsuyoshi Isojima, Akira Oka, Masayo Kagami, Sachiko Kitanaka.
- Organizer
  The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
- Place of Presentation
  国際フォーラム（東京都中央区）
- Year and Date
  2016-11-17
- Data Source
  KAKENHI-PROJECT-26670494
[Presentation] くる病・ビタミンD欠乏症90例における遺伝子診断をもとにした病型別臨床所見2015
- Author(s)
  北中幸子、田村麻由子、磯島豪
- Organizer
  第88回日本内分泌学会学術総会
- Place of Presentation
  ニューオータニ（東京都港区）
- Year and Date
  2015-04-23
- Data Source
  KAKENHI-PROJECT-26670494
[Presentation] ビタミンD依存性くる病2型の7家系におけるビタミンD受容体遺伝子の3種類の新規変異とその機能解析2015
- Author(s)
  田村麻由子、磯島豪、北中幸子
- Organizer
  第88回日本内分泌学会学術総会
- Place of Presentation
  ニューオータニ（東京都港区）
- Year and Date
  2015-04-23
- Data Source
  KAKENHI-PROJECT-26670494
[Presentation] 性分化疾患から早期診断しコレステロール治療を行ったSmith-Lemli-Opitz症候群の１例2015
- Author(s)
  152.田村　麻由子、真船　亮、安戸　裕貴、下田　木の実、磯島　豪、笠間　健嗣、高橋　尚人、北中　幸子、岡　明
- Organizer
  第118回日本小児科学会学術集会
- Place of Presentation
  大阪国際会議場（大阪府大阪市）
- Year and Date
  2015-04-17
- Data Source
  KAKENHI-PROJECT-26670494
[Presentation] 禿頭をきたすビタミンD受容体遺伝子の新規変異の機能解析2015
- Author(s)
  田村麻由子、石澤通康、磯島豪、岡明、槇島誠、北中幸子
- Organizer
  第49回日本小児内分泌学会学術集会
- Place of Presentation
  タワーホール船堀（東京都江戸川区）
- Year and Date
  2015-10-08
- Data Source
  KAKENHI-PROJECT-26670494
[Presentation] 日光とくる病2014
- Author(s)
  北中幸子
- Organizer
  シンポジウム小児内分泌疾患と環境因子第117回日本小児科学会学術集会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] Gowers徴候を呈したビタミンD欠乏性くる病2013
- Author(s)
  北中幸子
- Organizer
  第598回日本小児科学会東京都地方会講話会
- Place of Presentation
  (指定発言)
- Year and Date
  2013-02-09
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] Hereditary 1,25-dihydroxyvitamin D-resistant rickets with homozygous VDR mutation - an extremely rare case of maternal uniparental disomy of chromosome 12 detected by genome-wide SNP array2013
- Author(s)
  Mayuko Tamura, Tsuyoshi Isojima, Sachiko Kitanaka et al
- Organizer
  Joint Meeting of Pediatric Endocrinology
- Place of Presentation
  Milano
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 優性遺伝形式を示したビタミンD依存性くる病2型(HVDRR)の分子メカニズムの解明2013
- Author(s)
  磯島豪、北中幸子、他
- Organizer
  第31回小児代謝性骨疾患研究会
- Place of Presentation
  東京
- Year and Date
  2013-12-07
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 非典型的遺伝型式を示したビタミンD依存性くる病2型―極めて稀な12番染色体片親性ダイソミーの可能性2013
- Author(s)
  北中幸子、磯島豪、他
- Organizer
  第86回日本内分泌学会学術集会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 次世代シークエンサーを用いたKenny-Caffey症候群(KCS)2型の原因遺伝子の同定2013
- Author(s)
  磯島豪, 土井晃一郎, 三井純, 小田洋一郎, 徳弘悦郎, 八十田明宏, 依藤亨, 堀川玲子, 吉村淳, 石浦浩之, 森下真一, 辻省次, 北中幸子
- Organizer
  第58回日本人類遺伝学会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-24791042
[Presentation] 先天性心疾患を合併する骨形成不全症に対するパミドロネート治療の経験2013
- Author(s)
  田村麻由子磯島豪、北中幸子、他
- Organizer
  第47回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] Hereditary vitamin D-resistant rickets inherited as a dominant trait caused by a novel vitamin D receptor mutation with dominant negative effect2013
- Author(s)
  Tsuyoshi Isojima, Sachiko Kitanaka et al
- Organizer
  Joint Meeting of Pediatric Endocrinology
- Place of Presentation
  Milano
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 特発性若年性骨粗鬆症の1例2013
- Author(s)
  藤澤佑介、磯島豪、北中幸子、他
- Organizer
  第47回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 次世代シークエンサーを用いたKenny-Caffey 症候群(KCS)2型の原因遺伝子の同定2013
- Author(s)
  磯島豪, 土井晃一郎, 三井純, 小田洋一郎, 徳弘悦郎, 八十田明宏, 依藤亨, 堀川玲子, 吉村淳, 石浦浩之, 森下真一, 辻省次, 北中幸子
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-24791042
[Presentation] 次世代シークエンサーを用いたKenny-Caffey症候群(KCS)2型の原因遺伝子の同定2013
- Author(s)
  磯島豪、北中幸子、他
- Organizer
  第58回日本人類遺伝学会学術集会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 次世代シークエンサーを用いたKenny-Caffey 症候群(KCS)2型の原因遺伝子の同定2013
- Author(s)
  磯島豪, 土井晃一郎, 三井純, 小田洋一郎, 徳弘悦郎, 八十田明宏, 依藤亨, 堀川玲子, 吉村淳, 石浦浩之, 森下真一, 辻省次, 北中幸子
- Organizer
  第58回日本人類遺伝学会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-24791042
[Presentation] 次世代シークエンサーを用いたKenny-Caffey症候群(KCS)2型の原因遺伝子の同定2013
- Author(s)
  磯島豪、北中幸子、他
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] SNPアレイ解析が病因の解明に有用であった12番染色体片親性ダイソミーによるビタミンD依存性くる病2型2013
- Author(s)
  北中幸子、田村麻由子、磯島豪、他
- Organizer
  第58回日本人類遺伝学会学術集会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 次世代シークエンサーを用いたKenny-Caffey症候群(KCS)2型の原因遺伝子の同定2013
- Author(s)
  磯島豪, 土井晃一郎, 三井純, 小田洋一郎, 徳弘悦郎, 八十田明宏, 依藤亨, 堀川玲子, 吉村淳, 石浦浩之, 森下真一, 辻省次, 北中幸子
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-24791042
[Presentation] 社会的性の決定に6か月を要した左心低形成症候群を合併した46,XY性分化疾患の1例2013
- Author(s)
  田中裕之,磯島豪、北中幸子、他
- Organizer
  第116回日本小児科学会学術集会
- Place of Presentation
  広島
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 12番染色体片親性ダイソミーによって発症したビタミンD依存性くる病2型―SNPアレイ解析の有用性2013
- Author(s)
  田村麻由子、磯島豪、北中幸子、他
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] ヘテロ接合体変異による優性阻害効果により発症したと考えられたビタミンD依存性くる病2型の1家系2012
- Author(s)
  磯島豪、高木美奈子、吉村和子、廣瀬伸一、北中幸子、五十嵐隆
- Organizer
  日本内分泌学会学術集会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 日本人小児の血中ビタミンＤ濃度に関する研究―第二報2012
- Author(s)
  高橋千恵、磯島豪、小田洋一郎、伊藤純子、北中幸子
- Organizer
  小児内分泌学会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] FGF23遺伝子変異による常染色体優性低リン血症性くる病の本邦初報告家系　－血中FGF23値と無症状例について－2012
- Author(s)
  高木美奈子、磯島豪、堀倫子、福本誠二、皆川真規、北中幸子
- Organizer
  小児内分泌学会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] ビタミンD関連遺伝子とくる病―ビタミンD依存性くる病からビタミンD欠乏症まで2012
- Author(s)
  北中幸子
- Organizer
  第85回日本内分泌学会学術集会クリニカルアワー
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 経時的にコルチゾール分泌能が低下したPOR異常症の一例2012
- Author(s)
  沼倉周彦、北中幸子、他
- Organizer
  第46回小児内分泌学会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] FGF23遺伝子変異による常染色体優性低リン血症性くる病の本邦初報告家系-血中FGF23値と無症状例について-2012
- Author(s)
  高木美奈子、磯島豪、北中幸子、他
- Organizer
  第46回小児内分泌学会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] FGF23遺伝子変異を同定した常染色体優性遺伝低リン血症性くる病の本邦初家系2012
- Author(s)
  北中幸子、磯島豪、他
- Organizer
  第30回日本骨代謝学会
- Place of Presentation
  東京(口演)
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 極低出生体重児における新生児期のカルシウム・リン代謝と身長予後についての検討2012
- Author(s)
  磯島豪、高橋千恵、五石圭司、土田晋也、高橋尚人、北中幸子、九島令子、渡辺とよ子
- Organizer
  小児内分泌学会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 日本人小児の血中ビタミンD濃度に関する研究―第二報2012
- Author(s)
  高橋千恵、磯島豪、北中幸子、他
- Organizer
  第46回小児内分泌学会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] アトピー性皮膚炎に合併した恥骨・坐骨骨髄炎の1例2012
- Author(s)
  野木森宣嗣、磯島豪、北中幸子、他
- Organizer
  第590回日本小児科学会東京都地方会講話会
- Place of Presentation
  東京
- Year and Date
  2012-03-10
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] LMX1B mutation with residual transcriptional activity as a cause of Nail-Patella-like renal disease2012
- Author(s)
  Isojima T, Kitanaka S, et al
- Organizer
  ASPR 2012
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] FGF23遺伝子変異を同定した常染色体優性遺伝低リン血症性くる病の本邦初家系2012
- Author(s)
  北中幸子、高木美奈子、磯島豪、堀倫子、福本誠二、皆川真規
- Organizer
  日本骨代謝学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] LMX1B mutation with residual transcriptional activity as a cause of Nail-Patella-like renal disease.2012
- Author(s)
  Isojima T, Harita Y, Kitanaka S, Igarashi T
- Organizer
  Congress of Asian Society for Pediatric Research
- Place of Presentation
  Seoul
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] ビタミンD関連遺伝子とくる病―ビタミンD依存性くる病からビタミンD欠乏症まで2012
- Author(s)
  北中幸子
- Organizer
  日本内分泌学会学術集会
- Place of Presentation
  名古屋
- Invited
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] ヘテロ接合体変異による優性阻害効果により発症したと考えられたビタミンD依存性くる病2型の1家系2012
- Author(s)
  磯島豪、北中幸子、他
- Organizer
  第85回日本内分泌学会学術集会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] LMX1B mutation with residual transcriptional activity as a cause of Nail-Patella-like renal disease2012
- Author(s)
  Isojima T, Kitanaka S, et al
- Organizer
  Congress of Asian Society for Pediatric Research
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 組織学的にnail-patella症候群腎症を呈し,外表所見のないnail-patella-like renal diseaseに認められたLMX1B機能低下型新規変異2012
- Author(s)
  磯島豪、北中幸子、他
- Organizer
  第47回日本小児腎臓病学会学術集会
- Year and Date
  2012-06-29
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 極低出生体重児における新生児期のカルシウム・リン代謝と身長予後についての検討2012
- Author(s)
  磯島豪、北中幸子、他
- Organizer
  第46回小児内分泌学会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] FGF23関連遺伝性低リン血症性くる病の病因の検討2011
- Author(s)
  齋藤祐、磯島豪、北中幸子、五十嵐隆
- Organizer
  第114回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 乳児期に糖尿病性ケトアシドーシスで発症した自己免疫性1型糖尿病の同胞例2011
- Author(s)
  藤野修平、磯島豪、北中幸子、他
- Organizer
  第45回小児内分泌学会
- Place of Presentation
  埼玉
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] ビタミンD欠乏症の発症に関連する遺伝子の解析2011
- Author(s)
  北中幸子, 他
- Organizer
  第114回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20591215
[Presentation] ビタミンD欠乏症と関連する遺伝子多型の解析2011
- Author(s)
  北中幸子, 他
- Organizer
  第84回日本内分泌学会学術集会
- Place of Presentation
  神戸
- Data Source
  KAKENHI-PROJECT-20591215
[Presentation] 21世紀のビタミンD不足-子どもから大人まで-2011
- Author(s)
  北中幸子
- Organizer
  第84回日本内分泌学会学術集会ランチョンセミナー
- Place of Presentation
  神戸
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] ビタミンD欠乏症の発症に関連する遺伝子の解析2011
- Author(s)
  北中幸子、磯島豪、他
- Organizer
  第　114回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 成長障害・運動発達の退行を主訴に受診したビタミンD依存性くる病I型(第2報)2011
- Author(s)
  安田祐希、北中幸子、他
- Organizer
  第114回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 乳糜胸水を伴ったGorham-Stout Syndromeの1例2011
- Author(s)
  吉田賢弘、磯島豪、北中幸子、他
- Organizer
  第29回小児代謝性骨疾患研究会
- Place of Presentation
  東京
- Year and Date
  2011-12-03
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 新規複合型ヘテロ接合性変異を認めた先天性無痛無汗症の1例2011
- Author(s)
  磯島豪,北中幸子,他
- Organizer
  第114回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] ワークショップGHDのトランジションをめぐる問題実際2011
- Author(s)
  北中幸子
- Organizer
  Forum on Growth Hormone Research 2011
- Place of Presentation
  東京
- Year and Date
  2011-10-15
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] ビタミンD欠乏症と関連する遺伝子多型の解析2011
- Author(s)
  北中幸子、磯島豪、五十嵐隆
- Organizer
  第84回日本内分泌学会学術集会
- Place of Presentation
  神戸
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] Thyrotoxicosis After Unrelated Stem Cell Transplantationi n a Patient with Acute Myelogenous Leukemia2011
- Author(s)
  Hiwatari M, Isojima T, Kitanaka S, et al
- Organizer
  ASPR 2011
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 21世紀のビタミンD不足　－子どもから大人まで－2011
- Author(s)
  北中幸子
- Organizer
  第８４回日本内分泌学会学術集会(招待講演)
- Place of Presentation
  神戸
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] ビタミンD依存性くる病2型に認められ転写活性化能を解析したビタミンD受容体の新規複合ヘテロ接合体変異2011
- Author(s)
  磯島豪、北中幸子、他
- Organizer
  第45回小児内分泌学会
- Place of Presentation
  埼玉
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 極低出生体重児における高ALP血症と身長予後について2011
- Author(s)
  磯島豪,北中幸子,他
- Organizer
  第回新生児未熟児学会シンポジウム
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] ビタミンD欠乏症と関連する遺伝子多型の解析2011
- Author(s)
  北中幸子、磯島豪、他
- Organizer
  第８４回日本内分泌学会学術集会
- Place of Presentation
  神戸
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] ビタミンD欠乏症の発症に関連する遺伝子の解析2011
- Author(s)
  北中幸子、高木美奈子、磯島豪、五十嵐隆
- Organizer
  第114回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 日本人小児の血中ビタミンD濃度に関する研究―第一報2011
- Author(s)
  北中幸子、磯島豪、他
- Organizer
  第45回小児内分泌学会
- Place of Presentation
  埼玉
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 新生児内分泌の諸問題カルシウム2010
- Author(s)
  北中幸子
- Organizer
  Nordiscience forum 2010
- Place of Presentation
  京都
- Year and Date
  2010-06-05
- Data Source
  KAKENHI-PROJECT-20591215
[Presentation] Association of vitamin D receptor gene polymorphism with vitamin D deficiency.2010
- Author(s)
  S. Kitanaka, et al.
- Organizer
  14 International Congress of Endocrinology.
- Place of Presentation
  Kyoto
- Data Source
  KAKENHI-PROJECT-20591215
[Presentation] Molecular analyses of vitamin D 25-hydroxylase gene in patients with vitamin D deficiency.2010
- Author(s)
  S. Kitanaka, et al.
- Organizer
  International Symposium on Pediatric Endocrinology.
- Place of Presentation
  Tokyo
- Data Source
  KAKENHI-PROJECT-20591215
[Presentation] 極低出生体重児における高アルカリフォスファターゼ(ALP)血症と身長予後についての検討2010
- Author(s)
  磯島豪, 北中幸子, 他
- Organizer
  第44回日本小児内分泌学会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-20591215
[Presentation] ビタミンD欠乏症におけるビタミンD25水酸化酵素遺伝子解析2009
- Author(s)
  北中幸子, 他
- Organizer
  第27回小児代謝性骨疾患研究会
- Place of Presentation
  東京
- Year and Date
  2009-12-05
- Data Source
  KAKENHI-PROJECT-20591215
[Presentation] ビタミンD欠乏症の疾患感受性遺伝子の解析2008
- Author(s)
  北中幸子, 他
- Organizer
  第42回日本小児内分泌学会
- Place of Presentation
  米子
- Data Source
  KAKENHI-PROJECT-20591215
[Presentation] ビタミンD1α水酸化酵素の同定と臨床への応用2007
- Author(s)
  北中幸子
- Organizer
  第110回日本小児科学会学術集会
- Place of Presentation
  京都市
- Data Source
  KAKENHI-PROJECT-18599001
[Presentation] ビタミンD1α氷酸化酵素の同定と臨床への応用2007
- Author(s)
  北中幸子
- Organizer
  第110回日本小児科学会学術集会(総合シンポジウム)
- Place of Presentation
  京都市
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18599001
[Presentation] Regulation of human insulin, IGF-I, and MRP2 promoter activity by wild-type and mutant HNF-1β in combination with HNF-1α.2006
- Author(s)
  Kitanaka, S, et. al.
- Organizer
  The 2nd congress of Asian Society of Pediatric Research
- Place of Presentation
  横浜市
- Year and Date
  2006-12-08
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18599001
[Presentation] Regulation of human insulin, IGF-I, and MRP2 promoter activity by wild-type and mutant HNF-1β in combination with HNF-1α2006
- Author(s)
  Kitanaka S, et. al.
- Organizer
  The 2nd congress of Asian Society for Pediatric Research
- Place of Presentation
  Yokohama
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18599001
[Presentation] 非典型的遺伝型式を示したビタミンD依存性くる病2型―極めて稀な12番染色体片親性ダイソミーの可能性
- Author(s)
  北中幸子、吉田秀樹、磯島豪
- Organizer
  第86回日本内分泌学会学術集会
- Place of Presentation
  仙台（仙台国際センター）
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] Hereditary 1,25-dihydroxyvitamin D-resistant rickets with homozygous VDR mutation - an extremely rare case of maternal uniparental disomy of chromosome 12 detected by genome-wide SNP array
- Author(s)
  Mayuko Tamura, Tsuyoshi Isojima, Hideki Yoshida, Minae Kawashima, Keiko Yamamoto, Taichi Kitaoka; Noriyuki Namba; Keiichi Ozono; Katsushi Tokunaga; Sachiko Kitanaka
- Organizer
  Joint Meeting of Pediatric Endocrinology
- Place of Presentation
  Milano Italy
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 12番染色体片親性ダイソミーによって発症したビタミンD依存性くる病2型―SNPアレイ解析の有用性
- Author(s)
  田村　麻由子、磯島　豪、吉田　秀樹、川嶋　実苗、山本　景子、北岡　太一、難波　範行、大薗　恵一、徳永　勝士、北中　幸子
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京（浅草ビューホテル）
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] ビタミンD欠乏症の発症に関する遺伝子多型
- Author(s)
  北中幸子
- Organizer
  日本ビタミン学会第６６回大会
- Place of Presentation
  姫路（姫路商工会議所）
- Invited
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 次世代シークエンサーを用いたKenny-Caffey症候群(KCS)2型の原因遺伝子の同定
- Author(s)
  磯島豪、土井晃一郎、三井純、小田洋一郎、徳弘悦郎、八十田明宏、依藤亨、堀川玲子、吉村淳、石浦浩之、森下真一、辻省次、北中幸子
- Organizer
  第58回日本人類遺伝学会学術集会
- Place of Presentation
  仙台（江陽ホテル）
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] Hereditary vitamin D-resistant rickets inherited as a dominant trait caused by a novel vitamin D receptor mutation with dominant negative effect.
- Author(s)
  Tsuyoshi Isojima, Kazuko Yoshimura, Michiyasu Ishizawa, Shinichi Hirose, Makoto Makishima, Sachiko Kitanaka
- Organizer
  Joint Meeting of Pediatric Endocrinology
- Place of Presentation
  Milano Italy
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 次世代シークエンサーを用いたKenny-Caffey症候群(KCS)2型の原因遺伝子の同定
- Author(s)
  磯島豪、北中幸子、他
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京（浅草ビューホテル）
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] ビタミンD受容体遺伝子解析で3種類の新規変異を認めたビタミンD依存性くる病2型の7家系
- Author(s)
  田村麻由子、磯島豪、北中幸子
- Organizer
  第48回日本小児内分泌学会学術集会
- Place of Presentation
  静岡
- Year and Date
  2014-09-25 – 2014-09-27
- Data Source
  KAKENHI-PROJECT-26670494
[Presentation] 染色体Gバンド分析で見いだせなかった不均衡転座をSNPアレイにより同定した10p-症候群の1例
- Author(s)
  磯島豪、田村麻由子、太田さやか、加藤元博、三牧正和、滝田順子、北中幸子、岡明
- Organizer
  第48回日本小児内分泌学会学術集会
- Place of Presentation
  静岡
- Year and Date
  2014-09-25 – 2014-09-27
- Data Source
  KAKENHI-PROJECT-26670494
[Presentation] 社会的性の決定に6か月を要した左心低形成症候群を合併した46,XY性分化疾患の1例
- Author(s)
  田中裕之, 磯島豪, 木村有希, 清水信隆, 井川靖彦, 北中幸子
- Organizer
  第116回日本小児科学会学術集会
- Place of Presentation
  広島（広島国際会議場）
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 先天性心疾患を合併する骨形成不全症に対するパミドロネート治療の経験
- Author(s)
  田村　麻由子　磯島　豪　犬塚　亮、清水　信隆、北中　幸子
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京（浅草ビューホテル）
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] 日光曝露とくる病
- Author(s)
  北中幸子
- Organizer
  第117回日本小児科学会学術集会
- Place of Presentation
  名古屋（名古屋国際会議場）
- Invited
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] SNPアレイ解析が病因の解明に有用であった12番染色体片親性ダイソミーによるビタミンD依存性くる病2型
- Author(s)
  北中　幸子、田村　麻由子、磯島　豪、川嶋　実苗、吉田　秀樹、山本　景子、北岡　太一、難波　範行、大薗　恵一、徳永　勝士
- Organizer
  第58回日本人類遺伝学会学術集会
- Place of Presentation
  仙台（江陽ホテル）
- Data Source
  KAKENHI-PROJECT-23591489
[Presentation] くる病・ビタミンD欠乏症88例の臨床的検討
- Author(s)
  北中幸子、田村麻由子、磯島豪
- Organizer
  第48回日本小児内分泌学会学術集会
- Place of Presentation
  静岡
- Year and Date
  2014-09-25 – 2014-09-27
- Data Source
  KAKENHI-PROJECT-26670494
[Presentation] Y染色体長腕欠失とKabuki症候群
- Author(s)
  北中幸子、田村麻由子、磯島豪、石井礼花、岡明、三宅紀子、松本直通、永井敏郎
- Organizer
  第59回日本人類遺伝学会学術集会
- Place of Presentation
  東京
- Year and Date
  2014-11-20 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-26670494
[Presentation] 特発性若年性骨粗鬆症の1例
- Author(s)
  藤澤佑介、北中幸子他
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京（浅草ビューホテル）
- Data Source
  KAKENHI-PROJECT-23591489
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1. ISOJIMA Tsuyoshi (00568230)

# of Collaborated Projects: 4 results

# of Collaborated Products: 65 results
2. NUMAKURA Chikahiko (00400549)

# of Collaborated Projects: 2 results

# of Collaborated Products: 2 results
3. 田中敏章 (90142067)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
4. SATO NAOKO (10383069)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. SEO Misuzu (60211223)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. 齋藤琢 (30456107)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
7. Saito Taku

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. MORISHITA Shinichi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
9. 辻省次

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
10. 秋山倫之

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

KITANAKA Sachiko 北中 幸子

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Mechanism of bone and cartilage proliferation by a novel bone elongation factor FAM111APrincipal Investigator

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Analysis of the mechanism of bone elongation using disease-specific iPS cellsPrincipal Investigator

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FAM111Aの骨成長、ミネラル代謝における役割の解明

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Analysis of a novel factor associated with short stature and application to therapyPrincipal Investigator

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Establishment of new diagnostic methods and therapeutic guidelines for congenital male hypogonadotropic hypogonadism.

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Exploring for the causative gene of Kenny-Caffey syndrome type 2

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Association of vitamin D-related gene polymorphism with vitamin D deficiency.Principal Investigator

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Exploring for the causative gene of Kenny-Caffey syndrome type2

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Association of gene polymorphism with vitamin D deficiency.Principal Investigator

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Analysis on the molecular mechanism underlying familial maturity-onset diabetes of the young.Principal Investigator

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[Book] 専門医による新小児内分泌疾患の治療2017

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[Book] 私の治療2017-2018年度版2017

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[Book] 小児疾患ガイドライン－最新の診療指針第3版2016

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[Book] 難病事典2015

KITANAKA Sachiko 北中幸子

[Book] 今日の治療指針2014　くる病2014

[Book] 小児科診療ガイドライン　思春期早発症2011

[Book] 小児科学　第10版　成長障害と内分泌疾患2011

[Book] 新生児内分泌学カルシウム代謝小児内分泌学(日本小児内分泌学会編)2009