Kosuke Izumi

Kosuke Izumi

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Kosuke Izumi

Kosuke Izumi

Publications by authors named "Kosuke Izumi"

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Interstitial 4q Deletion Syndrome Including Causing Pseudohypoaldosteronism.

Mol Syndromol 2020 Jan 21;10(6):327-331. Epub 2019 Dec 21.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1159/000505279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995944PMC
January 2020

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Am J Hum Genet 2019 Nov 3;105(5):987-995. Epub 2019 Oct 3.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Laboratory of Rare Disease Research, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848994PMC
November 2019

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

Am J Hum Genet 2019 04 14;104(4):596-610. Epub 2019 Mar 14.

Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451697PMC
April 2019

Cathepsin L-deficiency enhances liver regeneration after partial hepatectomy.

Life Sci 2019 Mar 20;221:293-300. Epub 2019 Feb 20.

Department of Gastroenterology, Juntendo University School of Medicine, Hongo 2-1-1, Bunkyo-ku, Tokyo 113-8421, Japan.

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http://dx.doi.org/10.1016/j.lfs.2019.02.040DOI Listing
March 2019

PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.

Epilepsy Res 2018 09 18;145:89-92. Epub 2018 Jun 18.

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pathology & Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09201211183002
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http://dx.doi.org/10.1016/j.eplepsyres.2018.06.008DOI Listing
September 2018

DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

Am J Med Genet A 2018 01 12;176(1):241-245. Epub 2017 Nov 12.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital, Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1002/ajmg.a.38517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726891PMC
January 2018

Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.

Am J Med Genet A 2016 11 26;170(11):2889-2894. Epub 2016 Aug 26.

Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37826DOI Listing
November 2016

Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes.

Authors:
Kosuke Izumi

Mol Syndromol 2016 Oct 2;7(5):262-273. Epub 2016 Sep 2.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pa., USA.

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http://dx.doi.org/10.1159/000448747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109993PMC
October 2016

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

Am J Hum Genet 2016 Aug 28;99(2):451-9. Epub 2016 Jul 28.

Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan; CREST, Japan Science and Technology Agency, Kawaguchi, 332-0012, Japan.

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http://dx.doi.org/10.1016/j.ajhg.2016.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974084PMC
August 2016

Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR.

Mol Genet Genomic Med 2016 May 20;4(3):257-61. Epub 2016 Jan 20.

Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences The University of Tokyo Tokyo Japan.

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http://dx.doi.org/10.1002/mgg3.200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867559PMC
May 2016

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.

Am J Med Genet A 2016 Feb 13;170A(2):471-475. Epub 2015 Oct 13.

Department of Pathology and Laboratory Medicine, the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37429DOI Listing
February 2016

Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.

Am J Med Genet A 2015 Oct 31;167A(10):2411-7. Epub 2015 May 31.

Genetics Program, Children's Regional Hospital, Cooper University Health Care.

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http://dx.doi.org/10.1002/ajmg.a.37184DOI Listing
October 2015

The Deubiquitinating Enzyme USP7 Regulates Androgen Receptor Activity by Modulating Its Binding to Chromatin.

J Biol Chem 2015 Aug 14;290(35):21713-23. Epub 2015 Jul 14.

From the Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, University of Tokyo, Tokyo 113-0032 and

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http://dx.doi.org/10.1074/jbc.M114.628255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571893PMC
August 2015

Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.

Mol Syndromol 2015 Jul 3;6(2):99-103. Epub 2015 Mar 3.

Institute for Molecular and Cellular Biosciences, Research Center for Epigenetic Disease, The University of Tokyo, Tokyo, Japan ; Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan.

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http://dx.doi.org/10.1159/000375542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521068PMC
July 2015

Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.

PLoS One 2014 16;9(10):e108853. Epub 2014 Oct 16.

The Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America; The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0108853PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199614PMC
June 2015

12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome.

Chromosome Res 2014 Dec 1;22(4):453-61. Epub 2014 Jul 1.

The Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA,

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http://dx.doi.org/10.1007/s10577-014-9431-yDOI Listing
December 2014

Pallister-Killian syndrome.

Am J Med Genet C Semin Med Genet 2014 Dec 25;166C(4):406-13. Epub 2014 Nov 25.

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http://dx.doi.org/10.1002/ajmg.c.31423DOI Listing
December 2014

NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy.

Eur J Med Genet 2014 Oct 10;57(10):558-61. Epub 2014 Aug 10.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.ejmg.2014.08.003DOI Listing
October 2014

Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.

Pediatr Dermatol 2013 Nov-Dec;30(6):e263-4. Epub 2013 Apr 3.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1111/pde.12115DOI Listing
August 2014

Cardiac manifestations of Pallister-Killian syndrome.

Am J Med Genet A 2014 May 6;164A(5):1130-5. Epub 2014 Feb 6.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Temple University School of Medicine, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36413DOI Listing
May 2014

Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.

Am J Med Genet A 2013 Dec 16;161A(12):3137-43. Epub 2013 Aug 16.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36149DOI Listing
December 2013

Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

Am J Med Genet A 2013 Dec 2;161A(12):3150-4. Epub 2013 Oct 2.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36159DOI Listing
December 2013

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

Am J Med Genet A 2013 Jan 7;161A(1):166-71. Epub 2012 Dec 7.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/ajmg.a.35625DOI Listing
January 2013

Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.

Am J Med Genet A 2012 Dec 20;158A(12):3033-45. Epub 2012 Nov 20.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.35500DOI Listing
December 2012

Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome.

Am J Med Genet A 2012 Dec 20;158A(12):3018-25. Epub 2012 Nov 20.

Alexander Center, Eden Prairie, Minnesota, ,USA.

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http://doi.wiley.com/10.1002/ajmg.a.35670
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http://dx.doi.org/10.1002/ajmg.a.35670DOI Listing
December 2012

Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases.

Am J Med Genet A 2012 Dec 20;158A(12):3002-17. Epub 2012 Nov 20.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35722
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http://dx.doi.org/10.1002/ajmg.a.35722DOI Listing
December 2012

1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.

Am J Med Genet A 2012 Jul 21;158A(7):1535-41. Epub 2012 May 21.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35368
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http://dx.doi.org/10.1002/ajmg.a.35368DOI Listing
July 2012

Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review.

J Pediatr 2012 Apr 1;160(4):645-650.e2. Epub 2011 Nov 1.

Center for Human Genetics, University Hospitals Case Medical Center and the Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, OH, USA.

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http://dx.doi.org/10.1016/j.jpeds.2011.09.021DOI Listing
April 2012

8p21 microdeletion in a patient with intellectual disability and behavioral abnormalities.

Am J Med Genet A 2011 Dec 7;155A(12):3148-52. Epub 2011 Nov 7.

Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio, USA.

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http://doi.wiley.com/10.1002/ajmg.a.34317
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http://dx.doi.org/10.1002/ajmg.a.34317DOI Listing
December 2011

Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features.

Am J Med Genet A 2011 Jun 12;155A(6):1384-9. Epub 2011 May 12.

Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.33959DOI Listing
June 2011

Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood.

Am J Med Genet A 2010 Aug;152A(8):2115-9

Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.33511DOI Listing
August 2010

Hepatitis C virus impairs p53 via persistent overexpression of 3beta-hydroxysterol Delta24-reductase.

J Biol Chem 2009 Dec 27;284(52):36442-52. Epub 2009 Oct 27.

Department of Experimental Phylaxiology, Faculty of Medical and Pharmaceutical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, Japan.

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http://dx.doi.org/10.1074/jbc.M109.043232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2794760PMC
December 2009

Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay.

Genet Test Mol Biomarkers 2009 Oct;13(5):623-30

Division of Maxillofacial/Neck Reconstruction, Maxillofacial Orthognathics, Department of Maxillofacial Reconstruction and Function, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1089/gtmb.2009.0018DOI Listing
October 2009

Case report: Adult phenotype of Mulvihill-Smith syndrome.

Am J Med Genet A 2009 Mar;149A(3):496-500

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.32551
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http://dx.doi.org/10.1002/ajmg.a.32551DOI Listing
March 2009

Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype.

Am J Med Genet A 2008 Aug;146A(15):1967-71

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.32120DOI Listing
August 2008

Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements.

Genet Test 2007 ;11(3):241-8

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1089/gte.2007.9993DOI Listing
January 2008

Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family.

Am J Med Genet A 2007 Dec;143A(23):2838-42

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31870DOI Listing
December 2007

Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.

Am J Med Genet A 2007 May;143A(10):1087-90

Department of Clinical and Molecular Genetics, National Center for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31700DOI Listing
May 2007

Umbilical cord length in urinary tract abnormalities associated with oligohydramnios: evidence regarding developmental pathogenesis.

Fetal Pediatr Pathol 2006 Sep-Oct;25(5):233-40

Division of Dysmorphology and Teratology, Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California 92103, USA.

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http://dx.doi.org/10.1080/15513810601123326DOI Listing
May 2007

Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome.

Pediatr Neurol 2007 Apr;36(4):258-60

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2006.11.015DOI Listing
April 2007

EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.

Congenit Anom (Kyoto) 2007 Mar;47(1):49-52

Division of Medical Genetics, Departments of Pediatrics, Keio University School of medicine, Tokyo, Japan.

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http://dx.doi.org/10.1111/j.1741-4520.2006.00140.xDOI Listing
March 2007

Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome.

Prenat Diagn 2006 Nov;26(11):1054-7

Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1002/pd.1554DOI Listing
November 2006

[Russell-Silver syndrome].

Nihon Rinsho 2006 Sep;Suppl 3:436-9

Department of Pediatrics, Keio University School of Medicine.

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September 2006