Publications by authors named "Tomohiro Hori"

24Publications

Autosomal dominant Hashimoto's thyroiditis with a mutation in .

Clin Pediatr Endocrinol 2019 20;28(3):91-96. Epub 2019 Jul 20.

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

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http://dx.doi.org/10.1297/cpe.28.91DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6646238PMC
July 2019

Fatal Progression of Gorham-Stout Disease with Skull Base Osteomyelitis and Lateral Medullary Syndrome.

Intern Med 2019 Jul 25;58(13):1929-1933. Epub 2019 Feb 25.

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

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http://dx.doi.org/10.2169/internalmedicine.2118-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6663530PMC
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

A Heterozygous CFHR3-CFHR1 Gene Deletion in a Pediatric Patient With Transplant-associated Thrombotic Microangiopathy Who was Treated With Eculizumab.

J Pediatr Hematol Oncol 2018 11;40(8):e544-e546

Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu University, Gifu.

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http://dx.doi.org/10.1097/MPH.0000000000000986DOI Listing
November 2018

Prepubertal onset of slipped capital femoral epiphysis associated with hypothyroidism: a case report and literature review.

BMC Endocr Disord 2017 Sep 18;17(1):59. Epub 2017 Sep 18.

Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, Gifu, 501-1194, Japan.

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http://dx.doi.org/10.1186/s12902-017-0210-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5604342PMC
September 2017

Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the gene.

Mol Genet Genomic Med 2017 Mar 8;5(2):177-184. Epub 2017 Feb 8.

Department of PediatricsGraduate School of MedicineGifu UniversityGifuJapan; Division of Clinical GeneticsGifu University HospitalGifuJapan.

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http://dx.doi.org/10.1002/mgg3.275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370231PMC
March 2017

Everolimus for Treatment of Pseudomyogenic Hemangioendothelioma.

J Pediatr Hematol Oncol 2017 08;39(6):e328-e331

Departments of *Pediatrics †Orthopedic Surgery §Pathology, Graduate School of Medicine, Gifu University, Gifu ‡Department of Pediatrics, Okayama University Graduate School of Medicine, Okayama, Japan.

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http://dx.doi.org/10.1097/MPH.0000000000000778DOI Listing
August 2017

Successful Everolimus Treatment of Kaposiform Hemangioendothelioma With Kasabach-Merritt Phenomenon: Clinical Efficacy and Adverse Effects of mTOR Inhibitor Therapy.

J Pediatr Hematol Oncol 2016 11;38(8):e322-e325

*Department of Pediatrics, Gifu Prefectural General Medical Center Departments of †Pediatrics ‡Orthopedic Surgery ∥Pathology, Gifu University Graduate School of Medicine, Gifu University, Gifu §Department of Pediatrics and Cell Transplantation, Mie University Graduate School of Medicine, Tsu, Japan.

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http://dx.doi.org/10.1097/MPH.0000000000000509DOI Listing
November 2016

Propranolol for infantile hemangioma: Effect on plasma vascular endothelial growth factor.

Pediatr Int 2016 Nov 7;58(11):1130-1135. Epub 2016 Jul 7.

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

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http://dx.doi.org/10.1111/ped.12981DOI Listing
November 2016

Everolimus for Primary Intestinal Lymphangiectasia With Protein-Losing Enteropathy.

Pediatrics 2016 Mar 16;137(3):e20152562. Epub 2016 Feb 16.

Departments of Pediatrics.

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http://dx.doi.org/10.1542/peds.2015-2562DOI Listing
March 2016

Complete bone regeneration in hemophilic pseudotumor of the mandible.

Pediatr Int 2016 May 6;58(5):406-408. Epub 2015 Nov 6.

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

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http://dx.doi.org/10.1111/ped.12820DOI Listing
May 2016

Inborn errors of ketone body utilization.

Pediatr Int 2015 ;57(1):41-8

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

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http://dx.doi.org/10.1111/ped.12585DOI Listing
December 2016

Facial palsy as an unusual presenting symptom associated with acute myeloid leukemia.

Pediatr Int 2014 Aug;56(4):e37-40

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

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http://dx.doi.org/10.1111/ped.12384DOI Listing
August 2014

Ketone body metabolism and its defects.

J Inherit Metab Dis 2014 Jul 8;37(4):541-51. Epub 2014 Apr 8.

Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan,

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http://dx.doi.org/10.1007/s10545-014-9704-9DOI Listing
July 2014

Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Mol Genet Metab 2013 Sep-Oct;110(1-2):184-7. Epub 2013 Jul 14.

Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu 501-1194, Japan.

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http://dx.doi.org/10.1016/j.ymgme.2013.07.004DOI Listing
March 2014

Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts.

Hum Mutat 2013 Mar 22;34(3):473-80. Epub 2013 Jan 22.

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

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http://dx.doi.org/10.1002/humu.22258DOI Listing
March 2013

Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.

J Clin Immunol 2012 Dec 31;32(6):1213-20. Epub 2012 Jul 31.

Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan.

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http://dx.doi.org/10.1007/s10875-012-9744-6DOI Listing
December 2012

Successful treatment of pediatric immune thrombocytopenic purpura associated with ulcerative colitis.

Pediatr Int 2011 Oct;53(5):771-773

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

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http://dx.doi.org/10.1111/j.1442-200X.2010.03308.xDOI Listing
October 2011

Translocation (1;10)(p34;p15) in infant acute myeloid leukemia with extramedullary infiltration in multiple sites.

Cancer Genet Cytogenet 2009 Jul;192(2):86-9

Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu, Japan.

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http://dx.doi.org/10.1016/j.cancergencyto.2009.04.010DOI Listing
July 2009