Takeshi Mizuguchi

Takeshi Mizuguchi

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Takeshi Mizuguchi

Publications by authors named "Takeshi Mizuguchi"

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Comparison of mitochondrial DNA variants detection using short- and long-read sequencing.

J Hum Genet 2019 Nov 13;64(11):1107-1116. Epub 2019 Aug 13.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-019-0654-9DOI Listing
November 2019

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.

J Hum Genet 2019 Oct 16;64(10):1005-1014. Epub 2019 Jul 16.

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

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http://dx.doi.org/10.1038/s10038-019-0641-1DOI Listing
October 2019

Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation.

Brain Dev 2019 Sep 24;41(8):726-730. Epub 2019 Apr 24.

Department of Pediatrics, Jichi Medical University, Tochigi, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.04.009DOI Listing
September 2019

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

J Hum Genet 2019 Sep 17. 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
September 2019

Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2.

Eur J Med Genet 2019 Sep 16:103769. Epub 2019 Sep 16.

Department of Pediatric Neurology, Miyagi Children's Hospital, 4-3-17 Ochiai, Aoba-ku, Sendai-shi, Miyagi, 989-3126, Japan; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1016/j.ejmg.2019.103769DOI Listing
September 2019

A novel de novo frameshift variant in SETD1B causes epilepsy.

J Hum Genet 2019 Aug 20;64(8):821-827. Epub 2019 May 20.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://www.nature.com/articles/s10038-019-0617-1
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http://dx.doi.org/10.1038/s10038-019-0617-1DOI Listing
August 2019

Pathogenic variants of , , and associated with hypothalamic hamartoma.

Neurology 2019 Jul 13;93(3):e237-e251. Epub 2019 Jun 13.

From the Departments of Human Genetics (A.F., S. Mitsuhashi, T.M., A.T., S. Miyatake, N. Miyake, N. Matsumoto) and Neurosurgery (M.S.), Yokohama City University Graduate School of Medicine; Departments of Functional Neurosurgery (T.H., H. Shirozu, H.M., M.F., S.K.) and Child Neurology (J.T.), Epilepsy Center, National Hospital Organization Nishiniigata Chuo Hospital Niigata, Japan; Department of Pediatrics and Neurology (M.S.), Wayne State University, Children's Hospital of Michigan, Detroit Medical Center; Department of Pediatrics (M.K.), Showa University School of Medicine, Tokyo; Department of Biochemistry (M.N., H. Saitsu), Hamamatsu University School of Medicine; and Clinical Research Institute (Y.T.), Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1212/WNL.0000000000007774DOI Listing
July 2019

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.

J Hum Genet 2019 May 14;64(5):487-492. Epub 2019 Feb 14.

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

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http://dx.doi.org/10.1038/s10038-019-0571-yDOI Listing
May 2019

Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases.

J Hum Genet 2019 Mar 17;64(3):191-197. Epub 2018 Dec 17.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-018-0551-7DOI Listing
March 2019

SOFT syndrome in a patient from Chile.

Am J Med Genet A 2019 Mar 20;179(3):338-340. Epub 2018 Dec 20.

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

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http://doi.wiley.com/10.1002/ajmg.a.61015
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http://dx.doi.org/10.1002/ajmg.a.61015DOI Listing
March 2019

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads.

Genome Biol 2019 03 19;20(1):58. Epub 2019 Mar 19.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1186/s13059-019-1667-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425644PMC
March 2019

Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation.

Congenit Anom (Kyoto) 2019 Feb 25. Epub 2019 Feb 25.

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

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http://dx.doi.org/10.1111/cga.12330DOI Listing
February 2019

Novel SUZ12 mutations in Weaver-like syndrome.

Clin Genet 2018 11 6;94(5):461-466. Epub 2018 Aug 6.

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

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http://doi.wiley.com/10.1111/cge.13415
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http://dx.doi.org/10.1111/cge.13415DOI Listing
November 2018

A novel SLC9A1 mutation causes cerebellar ataxia.

J Hum Genet 2018 Oct 17;63(10):1049-1054. Epub 2018 Jul 17.

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

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http://www.nature.com/articles/s10038-018-0488-x
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http://dx.doi.org/10.1038/s10038-018-0488-xDOI Listing
October 2018

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.

Ann Neurol 2018 07 30;84(1):159-161. Epub 2018 Jul 30.

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

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http://dx.doi.org/10.1002/ana.25256DOI Listing
July 2018

A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.

Brain Dev 2018 Jun 12;40(6):493-497. Epub 2018 Mar 12.

Research Center for Children and Research Center for Rett syndrome, St. Mary's Hospital, Fukuoka, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.02.002DOI Listing
June 2018

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.

J Hum Genet 2018 May 28;63(5):673-676. Epub 2018 Feb 28.

Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Medical Center & Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://www.nature.com/articles/s10038-018-0421-3
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http://dx.doi.org/10.1038/s10038-018-0421-3DOI Listing
May 2018

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

J Hum Genet 2018 Apr 6;63(4):487-491. Epub 2018 Feb 6.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-017-0404-9DOI Listing
April 2018

A homozygous NOP14 variant is likely to cause recurrent pregnancy loss.

J Hum Genet 2018 Apr 13;63(4):425-430. Epub 2018 Feb 13.

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

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http://dx.doi.org/10.1038/s10038-018-0410-6DOI Listing
April 2018

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.

J Hum Genet 2018 Mar 16;63(3):263-270. Epub 2018 Jan 16.

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

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http://dx.doi.org/10.1038/s10038-017-0405-8DOI Listing
March 2018

A novel mutation in SLC1A3 causes episodic ataxia.

J Hum Genet 2018 Feb 5;63(2):207-211. Epub 2017 Dec 5.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-017-0365-zDOI Listing
February 2018

A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.

Mov Disord 2018 01 22;33(1):177-179. Epub 2017 Nov 22.

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

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http://dx.doi.org/10.1002/mds.27219DOI Listing
January 2018

An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.

J Hum Genet 2017 Nov 20;62(11):997-1000. Epub 2017 Jul 20.

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

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http://dx.doi.org/10.1038/jhg.2017.77DOI Listing
November 2017

Shelterin components mediate genome reorganization in response to replication stress.

Proc Natl Acad Sci U S A 2017 05 10;114(21):5479-5484. Epub 2017 May 10.

Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892;

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http://dx.doi.org/10.1073/pnas.1705527114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448194PMC
May 2017

Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy.

Nature 2017 03 15;543(7643):126-130. Epub 2017 Feb 15.

Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1038/nature21372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567995PMC
March 2017

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

Am J Med Genet A 2016 10 5;170(10):2662-70. Epub 2016 Jun 5.

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

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http://dx.doi.org/10.1002/ajmg.a.37778DOI Listing
October 2016

WDR45 mutations in three male patients with West syndrome.

J Hum Genet 2016 Jul 31;61(7):653-61. Epub 2016 Mar 31.

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

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http://dx.doi.org/10.1038/jhg.2016.27DOI Listing
July 2016

Taz1-Shelterin Promotes Facultative Heterochromatin Assembly at Chromosome-Internal Sites Containing Late Replication Origins.

Mol Cell 2016 06 2;62(6):862-874. Epub 2016 Jun 2.

Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10972765163013
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http://dx.doi.org/10.1016/j.molcel.2016.04.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6699828PMC
June 2016

Single-Nucleotide-Specific Targeting of the Tf1 Retrotransposon Promoted by the DNA-Binding Protein Sap1 of Schizosaccharomyces pombe.

Genetics 2015 Nov 9;201(3):905-24. Epub 2015 Sep 9.

Section on Eukaryotic Transposable Elements, Program in Cellular Regulation and Metabolism, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892

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http://dx.doi.org/10.1534/genetics.115.181602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4649660PMC
November 2015

Chromosome domain architecture and dynamic organization of the fission yeast genome.

FEBS Lett 2015 Oct 19;589(20 Pt A):2975-86. Epub 2015 Jun 19.

Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.febslet.2015.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4598268PMC
October 2015

Cohesin-dependent globules and heterochromatin shape 3D genome architecture in S. pombe.

Nature 2014 Dec 12;516(7531):432-435. Epub 2014 Oct 12.

Laboratory of Biochemistry and Molecular Biology National Cancer Institute, National Institutes of Health Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1038/nature13833DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4465753PMC
December 2014

Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy.

Brain Dev 2014 Jun 27;36(6):523-7. Epub 2013 Jul 27.

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

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http://dx.doi.org/10.1016/j.braindev.2013.07.002DOI Listing
June 2014

A homolog of male sex-determining factor SRY cooperates with a transposon-derived CENP-B protein to control sex-specific directed recombination.

Proc Natl Acad Sci U S A 2011 Nov 31;108(46):18754-9. Epub 2011 Oct 31.

Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1109988108
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http://dx.doi.org/10.1073/pnas.1109988108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219157PMC
November 2011

Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.

Genesis 2010 Apr;48(4):233-43

International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Shinjuku-ward, Tokyo, Japan.

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http://dx.doi.org/10.1002/dvg.20607DOI Listing
April 2010

Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects.

Cardiol Young 2009 Sep 13;19(5):482-5. Epub 2009 Aug 13.

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

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http://dx.doi.org/10.1017/S1047951109990813DOI Listing
September 2009

Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss.

Am J Med Genet A 2009 Jun;149A(6):1224-30

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

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http://dx.doi.org/10.1002/ajmg.a.32877DOI Listing
June 2009

Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.

Am J Med Genet A 2008 Dec;146A(23):3070-4

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

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http://dx.doi.org/10.1002/ajmg.a.32567DOI Listing
December 2008

Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia.

J Hum Genet 2008 7;53(10):914-9. Epub 2008 Aug 7.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1007/s10038-008-0327-6DOI Listing
November 2008

Craniosynostosis in a patient with a de novo 15q15-q22 deletion.

Am J Med Genet A 2008 Jun;146A(11):1462-5

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

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http://dx.doi.org/10.1002/ajmg.a.32339DOI Listing
June 2008

Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

J Hum Genet 2007 24;52(1):1-12. Epub 2006 Oct 24.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://www.nature.com/doifinder/10.1007/s10038-006-0078-1
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http://dx.doi.org/10.1007/s10038-006-0078-1DOI Listing
March 2007

Angelman syndrome caused by an identical familial 1,487-kb deletion.

Am J Med Genet A 2007 Jan;143A(1):98-101

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

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http://dx.doi.org/10.1002/ajmg.a.31550DOI Listing
January 2007

Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes.

Am J Med Genet A 2006 Sep;140(18):1931-5

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.31421DOI Listing
September 2006

Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection.

J Hum Genet 2006 17;51(5):477-9. Epub 2006 Mar 17.

Department of Human Genetics, Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1007/s10038-006-0388-3DOI Listing
August 2006

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

J Hum Genet 2006 14;51(5):461-6. Epub 2006 Apr 14.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1007/s10038-006-0385-6DOI Listing
August 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

Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23.

Am J Med Genet A 2006 Feb;140(4):373-7

Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31094DOI Listing
February 2006

[Analyses of genetic factors in osteoporosis].

Tanpakushitsu Kakusan Koso 2005 Dec;50(16 Suppl):2109-14

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December 2005

[Genetic testing for Marfan syndrome].

Nihon Rinsho 2005 Dec;63 Suppl 12:427-30

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

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December 2005

Molecular genetics of Marfan syndrome.

Curr Opin Cardiol 2005 May;20(3):194-200

INSERM U383, Hôpital Necker-Enfants Malades, Université Paris 5, Paris, France.

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http://jmg.bmj.com/content/43/10/769.full.pdf
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May 2005

LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.

J Hum Genet 2004 15;49(2):80-6. Epub 2004 Jan 15.

Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Sakamoto 1-12-4, Nagasaki 852-8523, Japan.

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http://dx.doi.org/10.1007/s10038-003-0111-6DOI Listing
April 2004