Publications by authors named "Toshio Heike"

100Publications

Aicardi-Goutières syndrome-like encephalitis in mutant mice with constitutively active MDA5.

Int Immunol 2020 Nov 9. Epub 2020 Nov 9.

Laboratory of Regulatory Information, Institute for Frontier Life and Medical Science, Kyoto University, Kyoto , Japan.

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http://dx.doi.org/10.1093/intimm/dxaa073DOI Listing
November 2020

Case of cryopyrin-associated periodic syndrome who recovered from growth delay by treatment with canakinumab.

J Dermatol 2020 Nov 8. Epub 2020 Nov 8.

Department of Dermatology, University of Tsukuba, Tsukuba, Japan.

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http://dx.doi.org/10.1111/1346-8138.15681DOI Listing
November 2020

Integrated DNA methylation analysis reveals a potential role for ANKRD30B in Williams syndrome.

Neuropsychopharmacology 2020 09 18;45(10):1627-1636. Epub 2020 Apr 18.

Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1038/s41386-020-0675-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419304PMC
September 2020

Dysregulation of the oxytocin receptor gene in Williams syndrome.

Psychoneuroendocrinology 2020 05 20;115:104631. Epub 2020 Feb 20.

Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.psyneuen.2020.104631DOI Listing
May 2020

Cerebral Sinovenous Thrombosis and Subdural Hematoma as Treatment-Related Complications in Suprasellar Germ Cell Tumor Associated with Adipsic Diabetes Insipidus.

Pediatr Neurosurg 2019 10;54(4):288-292. Epub 2019 Jul 10.

Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center, Hyogo, Japan.

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http://dx.doi.org/10.1159/000501044DOI Listing
January 2020

Williams-Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma.

Front Genet 2018 4;9:368. Epub 2018 Sep 4.

Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.3389/fgene.2018.00368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131482PMC
September 2018

Living-donor lung transplantation after surgical repair of transposition of the great arteries.

Gen Thorac Cardiovasc Surg 2019 Jul 6;67(7):640-643. Epub 2018 Sep 6.

Department of Pediatrics, Graduate School of Medicine, Kyoto University Hospital, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto, Kyoto, 606-8507, Japan.

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http://dx.doi.org/10.1007/s11748-018-1006-yDOI Listing
July 2019

Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.

J Allergy Clin Immunol 2018 04 11;141(4):1485-1488.e11. Epub 2017 Dec 11.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.10.039DOI Listing
April 2018

Live-attenuated vaccines in a cryopyrin-associated periodic syndrome patient receiving canakinumab treatment during infancy.

Clin Case Rep 2017 11 12;5(11):1750-1755. Epub 2017 Sep 12.

Advanced and Integrated Cardiovascular Research Course in the Young and Adolescence Tokyo Japan.

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http://dx.doi.org/10.1002/ccr3.1149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676279PMC
November 2017

Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report.

Medicine (Baltimore) 2017 Nov;96(46):e8601

aDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto bDepartment of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Sapporo cDepartment of Gastroenterology and Hepatology, Kyoto University Graduate School of Medicine dDepartment of Medical Supply, Kyoto University Hospital, Kyoto eDepartment of Pediatrics, Kobe City Medical Center General Hospital, Kobe fDivision of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.

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http://dx.doi.org/10.1097/MD.0000000000008601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704822PMC
November 2017

A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells.

Sci Rep 2017 10 18;7(1):13473. Epub 2017 Oct 18.

Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, 606-8507, Japan.

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http://dx.doi.org/10.1038/s41598-017-14063-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647434PMC
October 2017

Fruit intake reduces the onset of respiratory allergic symptoms in schoolchildren.

Pediatr Allergy Immunol 2017 Dec 2;28(8):793-800. Epub 2017 Nov 2.

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1111/pai.12817DOI Listing
December 2017

Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Biochem Biophys Rep 2017 Mar 23;9:146-152. Epub 2016 Dec 23.

Department of Technology Development, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu, Chiba 292-0818, Japan.

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http://dx.doi.org/10.1016/j.bbrep.2016.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5614572PMC
March 2017

A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis.

Nihon Rinsho Meneki Gakkai Kaishi 2017 ;40(2):131-137

Department of Pediatric Hepatology and Gastroenterology, Saiseikai Yokohamashi Tobu Hospital.

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http://dx.doi.org/10.2177/jsci.40.131DOI Listing
September 2017

Pluripotent stem cell models of Blau syndrome reveal an IFN-γ-dependent inflammatory response in macrophages.

J Allergy Clin Immunol 2018 01 3;141(1):339-349.e11. Epub 2017 Jun 3.

Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.04.013DOI Listing
January 2018

Impact of post-transplant minimal residual disease on the clinical outcome of pediatric acute leukemia.

Pediatr Transplant 2017 Jun 31;21(4). Epub 2017 Mar 31.

Human Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1111/petr.12926DOI Listing
June 2017

Reply to Walsh et al.

Eur J Hum Genet 2017 08 4;25(8):907. Epub 2017 Jan 4.

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1038/ejhg.2016.192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567144PMC
August 2017

Efficacy of Ifosfamide-Cisplatin-Etoposide (ICE) Chemotherapy for a CNS Germinoma in a Child With Down Syndrome.

J Pediatr Hematol Oncol 2017 01;39(1):e39-e42

Departments of *Pediatrics †Neurosurgery ‡Radiation Oncology and Image-Applied Therapy §Human Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1097/MPH.0000000000000711DOI Listing
January 2017

Dasatinib induces autophagy in mice with Bcr-Abl-positive leukemia.

Int J Hematol 2017 Mar 15;105(3):335-340. Epub 2016 Nov 15.

School of Human Health Sciences, Graduate School of Medicine, Kyoto University, 53 Shogoin-Kawaharacho, Sakyo-ku, Kyoto, 606-8507, Japan.

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http://dx.doi.org/10.1007/s12185-016-2137-5DOI Listing
March 2017

Screening for secondary hyperparathyroidism in preterm infants.

Pediatr Int 2016 Oct 8;58(10):988-992. Epub 2016 Jun 8.

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1111/ped.12961DOI Listing
October 2016

Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children.

Clin Exp Rheumatol 2016 Sep-Oct;34(6 Suppl 102):S115-S120. Epub 2016 May 10.

Hacettepe University Faculty of Medicine, Paediatric Nephrology-Rheumatology, Ankara, Turkey.

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February 2017

A portable platform for stepwise hematopoiesis from human pluripotent stem cells within PET-reinforced collagen sponges.

Int J Hematol 2016 Dec 6;104(6):647-660. Epub 2016 Sep 6.

Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, 53 Shogoin-Kawahara-cho, Sakyo-ku, Kyoto, 606-8507, Japan.

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http://dx.doi.org/10.1007/s12185-016-2088-xDOI Listing
December 2016

Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis.

ScientificWorldJournal 2016 15;2016:2597376. Epub 2016 Jun 15.

Department of Pathology, Ehime University Proteo-Science Center and Graduate School of Medicine, Shitsukawa 454, Toon, Ehime 791-0295, Japan.

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http://dx.doi.org/10.1155/2016/2597376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926014PMC
November 2017

Impact of pretransplant minimal residual disease on the post-transplant outcome of pediatric acute lymphoblastic leukemia.

Pediatr Transplant 2016 Aug 3;20(5):692-6. Epub 2016 Jun 3.

Human Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1111/petr.12732DOI Listing
August 2016

A Pediatric Case of Metastatic Conventional Parosteal Osteosarcoma Treated With Multidrug Chemotherapy.

Pediatr Blood Cancer 2016 08 3;63(8):1471-3. Epub 2016 May 3.

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1002/pbc.26052DOI Listing
August 2016

Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS.

Pediatr Transplant 2016 Mar 8;20(2):333-6. Epub 2016 Jan 8.

Institute Department of Human Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1111/petr.12667DOI Listing
March 2016

Fetal growth restriction but not preterm birth is a risk factor for severe hypospadias.

Pediatr Int 2016 Jul 4;58(7):573-7. Epub 2016 Feb 4.

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1111/ped.12864DOI Listing
July 2016

Sports activities enhance the prevalence of rhinitis symptoms in schoolchildren.

Pediatr Allergy Immunol 2016 Mar 14;27(2):209-13. Epub 2016 Jan 14.

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1111/pai.12516DOI Listing
March 2016

Successful resolution of stromal keratitis and uveitis using canakinumab in a patient with chronic infantile neurologic, cutaneous, and articular syndrome: a case study.

J Ophthalmic Inflamm Infect 2015 Dec 21;5(1):34. Epub 2015 Nov 21.

Department of Ophthalmology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.

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http://dx.doi.org/10.1186/s12348-015-0065-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654730PMC
December 2015

Reply: To PMID 25946569.

Inflamm Bowel Dis 2015 Dec;21(12):E30-1

Kyoto University, Graduate School of Medicine, Kyoto, Japan.

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http://mearsheimer.uchicago.edu/pdfs/A0022.pdf
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http://dx.doi.org/10.1097/MIB.0000000000000645DOI Listing
December 2015

Long-term weekly ACTH therapy for relapsed West syndrome in tuberous sclerosis complex: A case report.

Brain Dev 2016 Apr 21;38(4):431-4. Epub 2015 Oct 21.

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1016/j.braindev.2015.10.004DOI Listing
April 2016

[Heterogeneity of HLH pathophysiology and treatment strategies].

Rinsho Ketsueki 2015 Oct;56(10):2248-57

Department of Pediatrics, Kyoto University Graduate School of Medicine.

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http://dx.doi.org/10.11406/rinketsu.56.2248DOI Listing
October 2015

Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells.

Sci Rep 2015 Aug 20;5:12831. Epub 2015 Aug 20.

Department of Growth Regulation, Institute for Frontier Medical Sciences, Kyoto University, 53 Shogoin-Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan.

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http://dx.doi.org/10.1038/srep12831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642533PMC
August 2015

Reduced Numbers and Proapoptotic Features of Mucosal-associated Invariant T Cells as a Characteristic Finding in Patients with Inflammatory Bowel Disease.

Inflamm Bowel Dis 2015 Jul;21(7):1529-40

*Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan; †Department of Gastroenterology and Hepatology, Graduate School of Medicine, Kyoto University, Kyoto, Japan; ‡Department of Anatomical, Forensic Medicine, and Pathological Studies, Graduate School of Medicine, Kyoto University, Kyoto, Japan; §Department of Internal Medicine, Division of General Medicine, Hyogo College of Medicine, Hyogo, Japan; ‖Department of Pediatrics, University of Toyama, Toyama, Japan; ¶Department of Pediatrics, Shiga University of Medical Science, Shiga, Japan; **Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan; ††Department of Clinical Laboratory, Kyoto University Hospital, Kyoto, Japan; ‡‡Department of Surgery, Hyogo College of Medicine, Hyogo, Japan; §§Department of Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan; and ‖‖Division of Gastroenterology, Department of Internal Medicine, Keio University School of Medicine, Kyoto, Japan.

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http://pdfs.journals.lww.com/ibdjournal/2015/07000/Reduced_N
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http://dx.doi.org/10.1097/MIB.0000000000000397DOI Listing
July 2015

Rituximab-combination chemotherapy achieves a 10th cycle of remission for Burkitt's lymphoma.

Pediatr Int 2015 Apr;57(2):e30-3

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1111/ped.12524DOI Listing
April 2015

Long-term efficacy of bevacizumab and irinotecan in recurrent pediatric glioblastoma.

Pediatr Int 2015 ;57(1):169-71

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1111/ped.12414DOI Listing
December 2016

Prognostic significance of aminopeptidase-N (CD13) in hepatoblastoma.

Pediatr Int 2015 Aug 14;57(4):558-66. Epub 2015 Jul 14.

Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.

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http://dx.doi.org/10.1111/ped.12597DOI Listing
August 2015

A granulocytosis associated with rufinamide: A case report.

Brain Dev 2015 Sep 22;37(8):825-8. Epub 2015 Jan 22.

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1016/j.braindev.2014.12.010DOI Listing
September 2015

Derivation of mesenchymal stromal cells from pluripotent stem cells through a neural crest lineage using small molecule compounds with defined media.

PLoS One 2014 2;9(12):e112291. Epub 2014 Dec 2.

Department of Tissue Regeneration, Institute for Frontier Medical Sciences, Kyoto University, Kyoto, Japan; Department of Cell Growth and Differentiation, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan; Department of Orthopaedic Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112291PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251837PMC
August 2015

Munc13-4 deficiency with CD5 downregulation on activated CD8+ T cells.

Pediatr Int 2014 Aug;56(4):605-8

Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.

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http://dx.doi.org/10.1111/ped.12290DOI Listing
August 2014

A boy with unilateral neck myoclonus of cortical origin independently on both sides.

Seizure 2015 Jan 23;24:131-3. Epub 2014 Jul 23.

Department of Pediatrics, Kyoto University Graduate School of Medicine, 54 Kawaharacho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan.

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http://dx.doi.org/10.1016/j.seizure.2014.07.010DOI Listing
January 2015

Cortical muscle control of spontaneous movements in human neonates.

Eur J Neurosci 2014 Aug 15;40(3):2548-53. Epub 2014 May 15.

Department of Pediatrics, Graduate School of Medicine, Kyoto University, 606-8507, Kyoto, Japan; Japan Society for the Promotion of Science, 102-0083, Tokyo, Japan.

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http://dx.doi.org/10.1111/ejn.12612DOI Listing
August 2014

Real-time single-cell imaging of protein secretion.

Sci Rep 2014 Apr 22;4:4736. Epub 2014 Apr 22.

1] RIKEN Center for Integrative Medical Sciences (IMS-RCAI), 1-7-22 Suehiro-cho Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan [2] Department of Human Genome Research, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu, Chiba 292-0818, Japan.

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http://dx.doi.org/10.1038/srep04736DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3994437PMC
April 2014

Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues?

Am J Med Genet A 2014 Jul 14;164A(7):1830-4. Epub 2014 Apr 14.

Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36546DOI Listing
July 2014

Good response to chemotherapy spares irradiation for extrarenal rhabdoid tumor conferring better activities of daily living.

J Pediatr Hematol Oncol 2015 Jan;37(1):e57-9

Departments of *Pediatrics †Orthopedic Surgery ‡Plastic and Reconstructive Surgery §Human Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1097/MPH.0000000000000150DOI Listing
January 2015

High prevalence of severe circulatory complications with diazoxide in premature infants.

Neonatology 2014 21;105(3):166-71. Epub 2014 Jan 21.

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1159/000356772DOI Listing
November 2014

The clinical utility of genetic testing for t(8;16)(p11;p13) in congenital acute myeloid leukemia.

J Pediatr Hematol Oncol 2014 Jul;36(5):e325-7

*Department of Pediatrics, Graduate School of Medicine §Department of Clinical Application, Center for iPS Cell Research and Application ∥Human Health Sciences, Graduate School of Medicine, Kyoto University †Ijinkai Takeda General Hospital ‡Department of Molecular Diagnostics and Therapeutics, Kyoto Prefectural University of Medicine Graduate School of Medical Science, Kyoto, Japan.

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http://dx.doi.org/10.1097/MPH.0000000000000099DOI Listing
July 2014

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.

Am J Hum Genet 2013 Nov 24;93(5):945-56. Epub 2013 Oct 24.

Department of Dermatology, Keio University School of Medicine, Tokyo 160-8582, Japan; Keio-Maruho Laboratory of Skin Barriology, Keio University School of Medicine, Tokyo 160-8582, Japan; Center for Integrated Medical Research, Keio University School of Medicine, Tokyo 160-8582, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.09.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824127PMC
November 2013

Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome.

Clin Ophthalmol 2013 6;7:1581-5. Epub 2013 Aug 6.

Department of Ophthalmology, Kansai Medical University, Osaka, Japan.

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http://dx.doi.org/10.2147/OPTH.S49281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3743521PMC
August 2013

Paroxysmal gaze deviations as the sole manifestation of occipital lobe epilepsy.

Seizure 2013 Dec 17;22(10):913-5. Epub 2013 Jul 17.

Department of Pediatrics, Kyoto University Hospital, 54 Shogoin-Kawaharacho, Sakyo-ku, Kyoto 606-8507, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2013.06.012DOI Listing
December 2013

MEFV Variants in Patients with PFAPA Syndrome in Japan.

Open Rheumatol J 2013 19;7:22-5. Epub 2013 Apr 19.

Department of Pediatrics, Kansai Medical University, Japan.

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http://dx.doi.org/10.2174/1874312901307010022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681033PMC
July 2013

Salivary biomarkers are not suitable for pain assessment in newborns.

Early Hum Dev 2013 Jul 10;89(7):503-6. Epub 2013 Apr 10.

Department of Pediatrics, Kyoto University Hospital, 54 Shogoin-Kawaharacho, Sakyo-ku, Kyoto 606-8507, Japan.

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http://dx.doi.org/10.1016/j.earlhumdev.2013.03.006DOI Listing
July 2013