Yoshio Makita

Yoshio Makita

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Yoshio Makita

Yoshio Makita

Publications by authors named "Yoshio Makita"

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 05 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

Novel compound heterozygous variants in a patient with Usher syndrome type I.

Hum Genome Var 2019 28;6. Epub 2019 Jan 28.

4Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

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http://www.nature.com/articles/s41439-019-0037-y
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http://dx.doi.org/10.1038/s41439-019-0037-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348282PMC
January 2019

Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis.

Cytogenet Genome Res 2017 27;153(1):1-9. Epub 2017 Oct 27.

Division of Molecular Genetics, Institute for Comprehensive Medical Science (ICMS), and Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Department of Pediatrics, Toyota Kosei Hospital, Toyota, Department of Obstetrics and Gynecology, Faculty of Medicine, Kagoshima University, and Takeuchi Ladies Clinic/Infertility Center, Kagoshima, and Education Center, Asahikawa Medical University, Hokkaido, Japan.

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http://dx.doi.org/10.1159/000481586DOI Listing
January 2018

PCDH19 mutation in Japanese females with epilepsy.

Epilepsy Res 2012 Mar 1;99(1-2):28-37. Epub 2011 Nov 1.

Department of Pediatrics, School of Medicine, Fukuoka University, 7-45-1, Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan.

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http://dx.doi.org/10.1016/j.eplepsyres.2011.10.014DOI Listing
March 2012

Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.

J Hum Genet 2012 Mar 19;57(3):191-6. Epub 2012 Jan 19.

Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2011.154DOI Listing
March 2012

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Hum Genet 2012 Jan 7;131(1):99-110. Epub 2011 Jul 7.

Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8510, Japan.

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http://link.springer.com/content/pdf/10.1007/s00439-011-1047
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http://link.springer.com/10.1007/s00439-011-1047-0
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http://dx.doi.org/10.1007/s00439-011-1047-0DOI Listing
January 2012

MBTPS2 mutation causes BRESEK/BRESHECK syndrome.

Am J Med Genet A 2012 Jan 21;158A(1):97-102. Epub 2011 Nov 21.

Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.34373
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http://dx.doi.org/10.1002/ajmg.a.34373DOI Listing
January 2012

5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.

Eur J Med Genet 2011 May-Jun;54(3):354-6. Epub 2010 Dec 21.

Department of Pediatrics, Asahikawa Medical College, 2-1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 078-8510, Japan.

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http://dx.doi.org/10.1016/j.ejmg.2010.12.004DOI Listing
September 2011

Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.

J Hum Genet 2011 Aug 14;56(8):609-12. Epub 2011 Jul 14.

Department of Pediatrics, School of Medicine, Fukuoka University, 45-1, 7-chome Nanakuma, Jonan-ku, Fukuoka, Japan.

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http://dx.doi.org/10.1038/jhg.2011.69DOI Listing
August 2011

Acute disseminated encephalomyelitis in an infant with incontinentia pigmenti.

Brain Dev 2009 Sep 21;31(8):625-8. Epub 2008 Sep 21.

Department of Pediatrics, Abashiri Kosei Hospital, Abashiri, Hokkaido, Japan.

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http://dx.doi.org/10.1016/j.braindev.2008.08.010DOI Listing
September 2009

Paternal allele of IGF2 gene haplotype CTG is associated with fetal and placental growth in Japanese.

Pediatr Res 2009 Aug;66(2):135-9

Department of Pediatrics, Asahikawa Medical College, Asahikawa, Hokkaido 078-8510, Japan.

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http://dx.doi.org/10.1203/PDR.0b013e3181a9e818DOI Listing
August 2009

Association of SLC6A9 gene variants with human essential hypertension.

J Atheroscler Thromb 2009 Jun 25;16(3):201-6. Epub 2009 Jun 25.

Division of Nephrology, Hypertension and Endocrinology, Department of Medicine, Nihon University School of Medicine, Itabashi 173-8610, Tokyo, Japan.

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http://dx.doi.org/10.5551/jat.e125DOI Listing
June 2009

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.

Brain Dev 2009 Jan 21;31(1):27-33. Epub 2008 Jul 21.

Department of Pediatrics, School of Medicine, Fukuoka University, 45-1, 7-chome Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan.

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http://dx.doi.org/10.1016/j.braindev.2008.05.010DOI Listing
January 2009

Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly.

Am J Med Genet A 2008 Nov;146A(22):2905-10

Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.32519DOI Listing
November 2008

The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.

Am J Med Genet A 2008 Aug;146A(16):2145-51

Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.32433DOI Listing
August 2008

Molecular basis of neonatal diabetes in Japanese patients.

J Clin Endocrinol Metab 2007 Oct 17;92(10):3979-85. Epub 2007 Jul 17.

Department of Pediatrics, Asahikawa Medical College, 2-1-1-1 Midorigaoka Higashi, Asahikawa 078-8510, Japan.

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http://dx.doi.org/10.1210/jc.2007-0486DOI Listing
October 2007

Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis.

J Hum Genet 2007 4;52(5):397-405. Epub 2007 Apr 4.

Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.

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http://dx.doi.org/10.1007/s10038-007-0127-4DOI Listing
August 2007

Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization.

Am J Med Genet A 2007 Jun;143A(11):1191-7

Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, and Department of Pediatrics, Tokyo Teishin Hospital, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31737DOI Listing
June 2007

Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension.

Hypertension 2006 Sep 24;48(3):512-8. Epub 2006 Jul 24.

Division of Molecular Diagnostics, Advanced Medical Research Center, Nihon University School of Medicine, Ooyaguchi-kamimachi, 30-1 Itabashi-ku, Tokyo 173-8610, Japan.

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http://dx.doi.org/10.1161/01.HYP.0000233877.84343.d7DOI Listing
September 2006

Spine and rib abnormalities and stature in spondylocostal dysostosis.

Spine (Phila Pa 1976) 2006 Apr;31(7):E192-7

Department of Pediatric Orthopedics, Shizuoka Children's Hospital, Shizuoka-City, Japan.

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http://dx.doi.org/10.1097/01.brs.0000208166.61618.8fDOI Listing
April 2006

[Neonatal screening].

Authors:
Yoshio Makita

Nihon Rinsho 2005 Dec;63 Suppl 12:104-8

Department of Pediatrics, Asahikawa Medical College.

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December 2005

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.

Hum Genet 2004 Mar 29;114(4):345-8. Epub 2004 Jan 29.

Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, c/o Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, 108-8639 Minato-ku, Tokyo, Japan.

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http://dx.doi.org/10.1007/s00439-004-1081-2DOI Listing
March 2004

Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene.

J Hum Genet 2003 ;48(2):82-5

Department of Public Health, Asahikawa Medical College, 2-1-1-1 Midorigaoka-higashi, Japan.

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http://dx.doi.org/10.1007/s100380300011DOI Listing
March 2003

Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis.

J Hum Genet 2002 ;47(8):400-6

Department of Public Health, Asahikawa Medical College, 2-1-1-1 Midorigaoka-higashi, Asahikawa 078-8510, Japan.

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http://dx.doi.org/10.1007/s100380200058DOI Listing
October 2002

Methylenetetrahydrofolate reductase genotype, vitamin B12, and folate influence plasma homocysteine in hemodialysis patients.

Am J Kidney Dis 2002 May;39(5):1032-9

Division of Blood Transfusion and Mathematical Informative Science, Yamanashi Medical University, Tago Clinic, Yamanashi, Japan.

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http://dx.doi.org/10.1053/ajkd.2002.32779DOI Listing
May 2002

Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones.

Am J Med Genet 2002 Jan;107(1):5-11

Department of Radiology, Nasu-Chuou Hospital, Tochigi, Japan.

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http://dx.doi.org/10.1002/ajmg.10079DOI Listing
January 2002