Publications by authors named "Hirofumi Ohashi"

100Publications

de Winter Electrocardiogram Pattern Due to Vasospastic Angina.

Circ J 2020 Sep 31;84(10):1884. Epub 2020 Jul 31.

Department of Cardiology, Aichi Medical University.

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http://dx.doi.org/10.1253/circj.CJ-20-0519DOI Listing
September 2020

Detailed Characterization of Vulnerable Plaque Morphology by High-Resolution Intravascular Ultrasound.

Circ J 2020 Aug 23;84(9):1606. Epub 2020 Jul 23.

Department of Cardiology, Aichi Medical University.

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http://dx.doi.org/10.1253/circj.CJ-20-0355DOI Listing
August 2020

Atrial Septal Hematoma After Transcatheter Aortic Valve Implantation.

Circ J 2020 Jul 18;84(8):1346. Epub 2020 Jun 18.

Department of Cardiology, Aichi Medical University.

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http://dx.doi.org/10.1253/circj.CJ-20-0276DOI Listing
July 2020

Use of Perampanel and a Ketogenic Diet in Nonketotic Hyperglycinemia: A Case Report.

Neuropediatrics 2020 Mar 16. Epub 2020 Mar 16.

Division of Medical Genetics, Saitama Children's Medical Center, Saitama-City, Saitama, Japan.

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http://dx.doi.org/10.1055/s-0040-1708536DOI Listing
March 2020

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Interstitial 6q25 microdeletion syndrome: 46,XX,del(6)(q25.2q26).

Pediatr Int 2019 Jun 13;61(6):618-620. Epub 2019 Jun 13.

Department of Pediatrics, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan.

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http://dx.doi.org/10.1111/ped.13871DOI Listing
June 2019

TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum.

J Bone Miner Res 2019 10 5;34(10):1873-1879. Epub 2019 Aug 5.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1002/jbmr.3805DOI Listing
October 2019

A new strategy to identify hepatitis B virus entry inhibitors by AlphaScreen technology targeting the envelope-receptor interaction.

Biochem Biophys Res Commun 2018 06 11;501(2):374-379. Epub 2018 May 11.

Department of Virology II, National Institute of Infectious Diseases, Tokyo, Japan; Department of Applied Biological Sciences, Tokyo University of Science, Noda, Japan; CREST, JST, Saitama, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2018.04.187DOI Listing
June 2018

Catathrenia in Pitt-Hopkins syndrome associated with 18q interstitial deletion.

Pediatr Int 2018 May 6;60(5):479-481. Epub 2018 Apr 6.

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

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http://dx.doi.org/10.1111/ped.13514DOI Listing
May 2018

First Patient With Salla Disease Confirmed by Genomic Analysis in Japan.

Pediatr Neurol 2018 04 31;81:52-53. Epub 2018 Jan 31.

Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.01.002DOI Listing
April 2018

l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report.

Brain Dev 2018 Apr 27;40(4):353-356. Epub 2017 Dec 27.

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

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http://dx.doi.org/10.1016/j.braindev.2017.12.008DOI Listing
April 2018

Hyperechoic renal medullary pyramids in a boy with Simpson-Golabi-Behmel syndrome.

Clin Dysmorphol 2018 Jan;27(1):25-26

Department of Pediatrics, University of Yamanashi, Yamanashi.

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http://dx.doi.org/10.1097/MCD.0000000000000195DOI Listing
January 2018

Progressive subglottic stenosis in a child with Pallister-Killian syndrome.

Congenit Anom (Kyoto) 2018 May 29;58(3):102-104. Epub 2017 Aug 29.

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

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http://dx.doi.org/10.1111/cga.12240DOI Listing
May 2018

Reply to Padmanabhan and Dixit: Hepatitis C virus entry inhibitors for optimally boosting direct-acting antiviral-based treatments.

Proc Natl Acad Sci U S A 2017 06 16;114(23):E4527-E4529. Epub 2017 May 16.

Department of Virology II, National Institute of Infectious Diseases, Tokyo 162-8640, Japan;

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http://dx.doi.org/10.1073/pnas.1705234114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468609PMC
June 2017

Stereo-controlled synthesis of functionalized tetrahydropyridines based on the cyanomethylation of 1,6-dihydropyridines and generation of anti-hepatitis C virus agents.

Bioorg Med Chem 2017 06 7;25(11):2851-2855. Epub 2017 Mar 7.

Division of Applied Chemistry, Graduate School of Engineering, Tokyo University of Agriculture and Technology, 2-24-16 Nakacho, Koganei, Tokyo 184-8588, Japan; JST, PRESTO, 4-1-8 Honcho, Kawaguchi, Saitama 332-0012, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.bmc.2017.03.011DOI Listing
June 2017

Quantifying antiviral activity optimizes drug combinations against hepatitis C virus infection.

Proc Natl Acad Sci U S A 2017 02 7;114(8):1922-1927. Epub 2017 Feb 7.

Department of Virology II, National Institute of Infectious Diseases, Tokyo 162-8640, Japan;

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http://dx.doi.org/10.1073/pnas.1610197114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338374PMC
February 2017

[Revealing the characteristics of antiviral agents].

Uirusu 2017 ;67(2):133-142

Department of Virology II, National Institute of Infectious Diseases, Japan.

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https://www.jstage.jst.go.jp/article/jsv/67/2/67_133/_articl
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http://dx.doi.org/10.2222/jsv.67.133DOI Listing
January 2017

Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine.

Am J Hum Genet 2016 07 30;99(1):202-7. Epub 2016 Jun 30.

Laboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo 108-8639, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005442PMC
July 2016

Coexistence of neuroblastoma and ganglioneuroma in a girl with a hemizygous deletion of chromosome 11q14.1-23.3.

Am J Med Genet A 2016 Feb 13;170A(2):492-497. Epub 2015 Oct 13.

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

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http://dx.doi.org/10.1002/ajmg.a.37430DOI Listing
February 2016

Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.

Am J Med Genet A 2015 Oct 19;167A(10):2425-9. Epub 2015 Jun 19.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37191DOI Listing
October 2015

Psychosocial Responses to being Identified as a Balanced Chromosomal Translocation Carrier: a Qualitative Investigation of Parents in Japan.

J Genet Couns 2015 Dec 20;24(6):922-30. Epub 2015 Mar 20.

Department of Genetic Counseling, Ochanomizu University, 2-1-1 Ohtsuka, Bunkyo-ku, Tokyo, 112-8610, Japan.

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http://dx.doi.org/10.1007/s10897-015-9828-6DOI Listing
December 2015

Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.

Hum Mol Genet 2015 Jan 3;24(2):299-313. Epub 2014 Sep 3.

Cell Induction and Regulation Field, Department of Cell Growth and Differentiation, Center for iPS Cell Research and Application, Kyoto University, Japan Japan Science and Technology Agency, CREST, Tokyo, Japan

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http://hmg.oxfordjournals.org/content/early/2014/09/03/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu444
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http://dx.doi.org/10.1093/hmg/ddu444DOI Listing
January 2015

Cyclophilin inhibitors reduce phosphorylation of RNA-dependent protein kinase to restore expression of IFN-stimulated genes in HCV-infected cells.

Gastroenterology 2014 Aug 29;147(2):463-72. Epub 2014 Apr 29.

Department of Virology II, National Institute of Infectious Diseases, Tokyo, Japan.

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http://dx.doi.org/10.1053/j.gastro.2014.04.035DOI Listing
August 2014

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.

Am J Med Genet A 2014 Mar 19;164A(3):597-609. Epub 2013 Dec 19.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36308DOI Listing
March 2014

Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report.

Eur J Obstet Gynecol Reprod Biol 2013 Dec 10;171(2):388-9. Epub 2013 Oct 10.

Department of Obstetrics & Gynecology, Saitama City Hospital, 2460 Mimuro, Midori-ku, Saitama-shi, Saitama 336-8522, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ejogrb.2013.09.044DOI Listing
December 2013

Sequence-specific microscopic visualization of DNA methylation status at satellite repeats in individual cell nuclei and chromosomes.

Nucleic Acids Res 2013 Oct 28;41(19):e186. Epub 2013 Aug 28.

Division of Epigenomics and Development, Medical Institute of Bioregulation, and Epigenome Network Research Center, Kyushu University, Fukuoka 812-8582, Japan, The Cancer Institute, Tangshan People's Hospital, Hebei 063001, China, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, F-67404 Illkirch, Cité Universitaire de Strasbourg, France, Department of Epigenetics Medicine, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi 409-3898, Japan, Division of Medical Genetics, Saitama Children's Medical Center, Saitama 339-8551, Japan and Research Center for Advanced Science and Technology, The University of Tokyo, Tokyo 113-8656, Japan.

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkt766DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3799461PMC
October 2013

Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography.

Congenit Anom (Kyoto) 2013 Jun;53(2):67-72

Department of Pediatric Dentistry, Nihon University Graduate School of Dentistry at Matsudo, Matsudo, Chiba, Japan.

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http://dx.doi.org/10.1111/cga.12004DOI Listing
June 2013

Patient with terminal 9 Mb deletion of chromosome 9p: refining the critical region for 9p monosomy syndrome with trigonocephaly.

Congenit Anom (Kyoto) 2013 Mar;53(1):49-53

Department of Clinical Laboratory, Divisions of Medical Genetics Neurosurgery Metabolism and Endocrinology, Saitama Children's Medical Center, Saitama, Japan.

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http://dx.doi.org/10.1111/j.1741-4520.2012.00362.xDOI Listing
March 2013

Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.

Fam Cancer 2013 Dec;12(4):611-4

Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, 260-8670, Japan.

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http://dx.doi.org/10.1007/s10689-013-9623-1DOI Listing
December 2013

KDM6A point mutations cause Kabuki syndrome.

Hum Mutat 2013 Jan 17;34(1):108-10. Epub 2012 Oct 17.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1002/humu.22229DOI Listing
January 2013

PAPSS2 mutations cause autosomal recessive brachyolmia.

J Med Genet 2012 Aug 11;49(8):533-8. Epub 2012 Jul 11.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2012-101039DOI Listing
August 2012

Focal segmental glomerulosclerosis in patients with complete deletion of one WT1 allele.

Pediatrics 2012 Jun 14;129(6):e1621-5. Epub 2012 May 14.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-Cho, Chuo-ku, Kobe 650-0017, Japan.

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http://dx.doi.org/10.1542/peds.2011-1323DOI Listing
June 2012

Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene.

Am J Med Genet A 2011 Dec 19;155A(12):2933-9. Epub 2011 Oct 19.

Department of Pediatric Dentistry, Nihon University Graduate School of Dentistry at Matsudo, Chiba, Japan.

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http://dx.doi.org/10.1002/ajmg.a.33969DOI Listing
December 2011

Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.

DNA Repair (Amst) 2011 Mar 12;10(3):314-21. Epub 2011 Jan 12.

Department of Genetics and Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Kasumi 1-2-3, Hiroshima 734-8553, Japan.

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http://dx.doi.org/10.1016/j.dnarep.2010.12.002DOI Listing
March 2011

Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome.

Congenit Anom (Kyoto) 2010 Sep 24;50(3):197-9. Epub 2010 Jun 24.

Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan.

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http://dx.doi.org/10.1111/j.1741-4520.2010.00282.xDOI Listing
September 2010

Decreasing margins to the uterine serosa as a method for increasing the volume of fibroids ablated with magnetic resonance-guided focused ultrasound surgery.

Eur J Obstet Gynecol Reprod Biol 2009 Sep 28;146(1):92-5. Epub 2009 May 28.

Department of Obstetrics and Gynecology, Itabashi Chuo Medical Center, 2-12-7 Azusawa, Itabashi City, Tokyo, 174-0051, Japan.

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http://dx.doi.org/10.1016/j.ejogrb.2009.05.004DOI Listing
September 2009

A patient with early onset Huntington disease and severe cerebellar atrophy.

Am J Med Genet A 2009 Feb;149A(4):598-601

Division of Medical Genetics, Gunma Children's Medical Center, Gunma, Japan.

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http://dx.doi.org/10.1002/ajmg.a.32707DOI Listing
February 2009

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.

Am J Med Genet A 2008 Jul;146A(14):1893-6

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1002/ajmg.a.32382DOI Listing
July 2008

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.

J Hum Genet 2008 14;53(8):764-768. Epub 2008 Jun 14.

Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.

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http://dx.doi.org/10.1007/s10038-008-0305-zDOI Listing
October 2008

Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism.

Am J Med Genet A 2008 Jun;146A(11):1458-61

Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.32319DOI Listing
June 2008

Non-invasive magnetic resonance imaging-guided focused ultrasound treatment for uterine fibroids - early experience.

Eur J Obstet Gynecol Reprod Biol 2008 Aug 21;139(2):199-203. Epub 2007 Dec 21.

Department of Obstetrics & Gynecology, Itabashi Chuo Medical Center, 2-12-7 Azusawa, Itabashi-ku, Tokyo 174-0051, Japan.

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http://dx.doi.org/10.1016/j.ejogrb.2007.10.018DOI Listing
August 2008

Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.

J Clin Endocrinol Metab 2007 Oct 24;92(10):4009-14. Epub 2007 Jul 24.

Department of Pediatrics, Keio University School of Medicine, 160-8582 Tokyo, Japan.

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http://dx.doi.org/10.1210/jc.2007-1101DOI Listing
October 2007

A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family.

Hum Genet 2007 Jun 30;121(5):625-9. Epub 2007 Mar 30.

Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan.

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http://dx.doi.org/10.1007/s00439-007-0354-yDOI Listing
June 2007

[Cockayne syndrome].

Authors:
Hirofumi Ohashi

Nihon Rinsho 2006 Sep;Suppl 3:413-5

Division of Medical Genetics, Saitama Children's Medical Center.

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September 2006

Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1).

Am J Med Genet A 2006 Aug;140(16):1773-7

Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31364DOI Listing
August 2006

[XXX syndrome].

Authors:
Hirofumi Ohashi

Nihon Rinsho 2006 Jun;Suppl 2:522-4

Division of Medical Genetics, Saitama Children's Medical Center.

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June 2006

Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.

Am J Med Genet A 2006 Jun;140(12):1280-4

Center for Molecular Biology and Cytogenetics, SRL Inc., Hino, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31292DOI Listing
June 2006

Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2).

Clin Rheumatol 2006 Jul 27;25(4):591-5. Epub 2006 Jan 27.

Department of Orthopaedics, Institute of Health Biosciences , the University of Tokushima Graduate School, 3-18-15Kuramoto, 770-8503, Tokushima, Japan.

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http://dx.doi.org/10.1007/s10067-005-0034-zDOI Listing
July 2006

A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.

Hum Genet 2005 Nov 15;118(2):175-8. Epub 2005 Nov 15.

Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Tokyo, 108-8639, Japan.

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http://dx.doi.org/10.1007/s00439-005-0058-0DOI Listing
November 2005