Keiko Wakui

Keiko Wakui

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Keiko Wakui

Keiko Wakui

Publications by authors named "Keiko Wakui"

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57Publications

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PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.

Am J Med Genet A 2019 Jun 2;179(6):948-957. Epub 2019 Apr 2.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.61142DOI Listing
June 2019

deletion syndrome: clinical features and epigenetic delineation.

J Med Genet 2017 12 28;54(12):836-842. Epub 2017 Aug 28.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2017-104854DOI Listing
December 2017

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Eur J Med Genet 2017 Oct 12;60(10):521-526. Epub 2017 Jul 12.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.

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http://dx.doi.org/10.1016/j.ejmg.2017.07.008DOI Listing
October 2017

A novel frameshift mutation of in a Japanese family with autosomal recessive cerebellar ataxia type 8.

Hum Genome Var 2017 26;4:17052. Epub 2017 Oct 26.

Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1038/hgv.2017.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656760PMC
October 2017

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.

Mol Cytogenet 2014 13;7:55. Epub 2014 Aug 13.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake 470-1192, Aichi, Japan.

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http://dx.doi.org/10.1186/s13039-014-0055-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255720PMC
December 2014

Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number variation junction.

Authors:
Keiko Wakui

J Hum Genet 2014 Nov 9;59(11):591-2. Epub 2014 Oct 9.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1038/jhg.2014.83DOI Listing
November 2014

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

Am J Med Genet A 2014 May 24;164A(5):1272-6. Epub 2014 Mar 24.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Department of Medical Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.36433
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http://dx.doi.org/10.1002/ajmg.a.36433DOI Listing
May 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

Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan.

J Hum Genet 2013 Aug 2;58(8):560-3. Epub 2013 May 2.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1038/jhg.2013.34DOI Listing
August 2013

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.

Autism Res Treat 2012 16;2012:724072. Epub 2012 Jul 16.

Department of Medical Genetics, Graduate School of Medicine, University of The Ryukyus, 207 Uehara, Nishihara, Okinawa 903-0215, Japan.

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http://dx.doi.org/10.1155/2012/724072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420546PMC
August 2012

Myelodysplastic syndrome in a child with 15q24 deletion syndrome.

Am J Med Genet A 2012 Feb 2;158A(2):412-6. Epub 2011 Dec 2.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.34395DOI Listing
February 2012

[Laboratory geneticist].

Authors:
Keiko Wakui

Nihon Rinsho 2010 Aug;68 Suppl 8:299-304

Department of Medical Genetics, Shinshu University School of Medicine.

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August 2010

[Clinical cytogenetics].

Authors:
Keiko Wakui

Nihon Rinsho 2010 Aug;68 Suppl 8:13-9

Department of Medical Genetics, Shinshu University School of Medicine.

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August 2010

One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.

Genet Test 2008 Dec;12(4):557-61

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://www.liebertpub.com/doi/10.1089/gte.2008.0048
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http://dx.doi.org/10.1089/gte.2008.0048DOI Listing
December 2008

Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan.

J Hum Genet 2007 5;52(8):675-9. Epub 2007 Jul 5.

Department of Neurology and Rheumatology, Shinshu University Hospital, 3-1-1 Asahi, Matsumoto 390-8621, Japan.

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http://www.nature.com/doifinder/10.1007/s10038-007-0170-1
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http://dx.doi.org/10.1007/s10038-007-0170-1DOI Listing
September 2007

A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12.

J Hum Genet 2007 8;52(2):179-90. Epub 2006 Dec 8.

Laboratory for Gastrointestinal Diseases, SNP Research Center, RIKEN, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan.

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http://dx.doi.org/10.1007/s10038-006-0092-3DOI Listing
March 2007

Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities.

J Hum Genet 2006 24;51(4):335-40. Epub 2006 Feb 24.

Laboratory of Molecular and Cellular Biology, Department of Materials and Biosystem Engineering, Faculty of Engineering, Toyama University, 3190 Gofuku, Toyama 930-8555, Japan.

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http://www.nature.com/doifinder/10.1007/s10038-006-0365-x
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http://dx.doi.org/10.1007/s10038-006-0365-xDOI Listing
May 2006

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.

Mol Genet Metab 2005 Sep-Oct;86(1-2):257-68

Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920500214
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http://dx.doi.org/10.1016/j.ymgme.2005.07.012DOI Listing
January 2006

[Cytogenetic analysis (chromosome analysis and FISH analysis)].

Authors:
Keiko Wakui

Nihon Rinsho 2005 Dec;63 Suppl 12:162-6

Department of Medical Genetics, Shinshu University School of Medicine.

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December 2005

Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.

Am J Med Genet A 2005 Mar;133A(2):180-3

Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, 138 Victory Road, Tainan, Taiwan, Republic of China.

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http://dx.doi.org/10.1002/ajmg.a.30362DOI Listing
March 2005

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

Hum Mol Genet 2005 Feb 7;14(4):535-42. Epub 2005 Jan 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://hmg.oxfordjournals.org/content/14/4/535.full.pdf
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http://www.hmg.oupjournals.org/cgi/doi/10.1093/hmg/ddi050
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http://dx.doi.org/10.1093/hmg/ddi050DOI Listing
February 2005

Genome architecture catalyzes nonrecurrent chromosomal rearrangements.

Am J Hum Genet 2003 May 20;72(5):1101-16. Epub 2003 Mar 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180264PMC
http://dx.doi.org/10.1086/374385DOI Listing
May 2003

Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression.

J Hum Genet 2002 ;47(10):511-6

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1007/s100380200076DOI Listing
December 2002

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

Am J Med Genet 2002 Sep;112(1):31-7

Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Mishima, Japan.

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http://dx.doi.org/10.1002/ajmg.10658DOI Listing
September 2002