Ohsuke Migita

Ohsuke Migita

UNVERIFIED PROFILE

Are you Ohsuke Migita?   Register this Author

Register author
Ohsuke Migita

Ohsuke Migita

Publications by authors named "Ohsuke Migita"

Are you Ohsuke Migita?   Register this Author

27Publications

491Reads

5Profile Views

Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.

Eur J Med Genet 2019 Sep 26;62(9):103547. Epub 2018 Sep 26.

Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183031
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.09.014DOI Listing
September 2019

Amplicon Sequencing-Based Noninvasive Fetal Genotyping for -Positive D Antigen-Negative Alleles.

Clin Chem 2019 Sep 5. Epub 2019 Sep 5.

Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2019.307074DOI Listing
September 2019

A successful treatment of tadalafil in incontinentia pigmenti with pulmonary hypertension.

Eur J Med Genet 2019 Sep 10:103764. Epub 2019 Sep 10.

Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2019.103764DOI Listing
September 2019

Molecular genetic analysis reveals atypical confined placental mosaicism with a small supernumerary marker chromosome derived from chromosome 18: A clinical report of discordant results from three prenatal tests.

Eur J Med Genet 2019 Jun 30;62(6):103533. Epub 2018 Aug 30.

Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo, 157-8535, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.08.014DOI Listing
June 2019

Analysis of chromosome microstructures in products of conception associated with recurrent miscarriage.

Reprod Biomed Online 2019 May 21;38(5):787-795. Epub 2018 Dec 21.

Department of Maternal-Fetal Biology, National Center Institute for Child Health and Development, Tokyo 157-8535, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.rbmo.2018.12.010DOI Listing
May 2019

Reading disability due to an ocular motor disorder: A case of an adolescent girl with a previous diagnosis of dyslexia.

Brain Dev 2019 Feb 25;41(2):187-190. Epub 2018 Sep 25.

Department of Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03877604183012
Publisher Site
http://dx.doi.org/10.1016/j.braindev.2018.09.003DOI Listing
February 2019

Liver transplantation: New treatment for mucopolysaccharidosis type VI in rats.

Pediatr Int 2019 Feb 21;61(2):180-189. Epub 2019 Feb 21.

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

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1111/ped.13751
Publisher Site
http://dx.doi.org/10.1111/ped.13751DOI Listing
February 2019

Novel mutation in a Japanese family with Branchio-oculo-facial syndrome.

Hum Genome Var 2018 10;5. Epub 2018 May 10.

2Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo, 157-8535 Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41439-018-0004-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945586PMC
May 2018

A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction.

Ann Hematol 2018 Apr 29;97(4):629-640. Epub 2018 Jan 29.

Department of Hematology, Hokkaido University Faculty of Medicine, Graduate School of Medicine, Kita 15, Nishi 7, Kita-ku, Sapporo, 0608638, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00277-017-3214-4DOI Listing
April 2018

Cytogenetic analysis of spontaneously discharged products of conception by array-based comparative genomic hybridization.

Springerplus 2016 24;5(1):874. Epub 2016 Jun 24.

Department of Molecular Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan ; Bioresource Research Center, Tokyo Medical and Dental University, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40064-016-2594-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920787PMC
July 2016

Mechanisms of formation of structural variation in a fully sequenced human genome.

Hum Mutat 2013 Feb 19;34(2):345-54. Epub 2012 Nov 19.

Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22240DOI Listing
February 2013

Newborn screening for Pompe disease in Japan.

Mol Genet Metab 2011 Dec 10;104(4):560-5. Epub 2011 Sep 10.

Department of Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.09.002DOI Listing
December 2011

A genome-wide scan for common alleles affecting risk for autism.

Authors:
Richard Anney Lambertus Klei Dalila Pinto Regina Regan Judith Conroy Tiago R Magalhaes Catarina Correia Brett S Abrahams Nuala Sykes Alistair T Pagnamenta Joana Almeida Elena Bacchelli Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Andrew R Carson Guillermo Casallo Jillian Casey Su H Chu Lynne Cochrane Christina Corsello Emily L Crawford Andrew Crossett Geraldine Dawson Maretha de Jonge Richard Delorme Irene Drmic Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Eric Fombonne Christine M Freitag John Gilbert Christopher Gillberg Joseph T Glessner Jeremy Goldberg Jonathan Green Stephen J Guter Hakon Hakonarson Elizabeth A Heron Matthew Hill Richard Holt Jennifer L Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M Klauck Alexander Kolevzon Olena Korvatska Vlad Kustanovich Clara M Lajonchere Janine A Lamb Magdalena Laskawiec Marion Leboyer Ann Le Couteur Bennett L Leventhal Anath C Lionel Xiao-Qing Liu Catherine Lord Linda Lotspeich Sabata C Lund Elena Maestrini William Mahoney Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Nadine M Melhem Alison Merikangas Ohsuke Migita Nancy J Minshew Ghazala K Mirza Jeff Munson Stanley F Nelson Carolyn Noakes Abdul Noor Gudrun Nygren Guiomar Oliveira Katerina Papanikolaou Jeremy R Parr Barbara Parrini Tara Paton Andrew Pickles Joseph Piven David J Posey Annemarie Poustka Fritz Poustka Aparna Prasad Jiannis Ragoussis Katy Renshaw Jessica Rickaby Wendy Roberts Kathryn Roeder Bernadette Roge Michael L Rutter Laura J Bierut John P Rice Jeff Salt Katherine Sansom Daisuke Sato Ricardo Segurado Lili Senman Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Vera Stoppioni Christina Strawbridge Raffaella Tancredi Katherine Tansey Bhooma Thiruvahindrapduram Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar Simon Wallace Kai Wang Zhouzhi Wang Thomas H Wassink Kirsty Wing Kerstin Wittemeyer Shawn Wood Brian L Yaspan Danielle Zurawiecki Lonnie Zwaigenbaum Catalina Betancur Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Louise Gallagher Daniel H Geschwind Michael Gill Jonathan L Haines Judith Miller Anthony P Monaco John I Nurnberger Andrew D Paterson Margaret A Pericak-Vance Gerard D Schellenberg Stephen W Scherer James S Sutcliffe Peter Szatmari Astrid M Vicente Veronica J Vieland Ellen M Wijsman Bernie Devlin Sean Ennis Joachim Hallmayer

Hum Mol Genet 2010 Oct 27;19(20):4072-82. Epub 2010 Jul 27.

Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/19/20/4072.full.pdf
Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddq307
Publisher Site
http://dx.doi.org/10.1093/hmg/ddq307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947401PMC
October 2010

Functional impact of global rare copy number variation in autism spectrum disorders.

Authors:
Dalila Pinto Alistair T Pagnamenta Lambertus Klei Richard Anney Daniele Merico Regina Regan Judith Conroy Tiago R Magalhaes Catarina Correia Brett S Abrahams Joana Almeida Elena Bacchelli Gary D Bader Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Susan E Bryson Andrew R Carson Guillermo Casallo Jillian Casey Brian H Y Chung Lynne Cochrane Christina Corsello Emily L Crawford Andrew Crossett Cheryl Cytrynbaum Geraldine Dawson Maretha de Jonge Richard Delorme Irene Drmic Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Eric Fombonne Christine M Freitag John Gilbert Christopher Gillberg Joseph T Glessner Jeremy Goldberg Andrew Green Jonathan Green Stephen J Guter Hakon Hakonarson Elizabeth A Heron Matthew Hill Richard Holt Jennifer L Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M Klauck Alexander Kolevzon Olena Korvatska Vlad Kustanovich Clara M Lajonchere Janine A Lamb Magdalena Laskawiec Marion Leboyer Ann Le Couteur Bennett L Leventhal Anath C Lionel Xiao-Qing Liu Catherine Lord Linda Lotspeich Sabata C Lund Elena Maestrini William Mahoney Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Alison Merikangas Ohsuke Migita Nancy J Minshew Ghazala K Mirza Jeff Munson Stanley F Nelson Carolyn Noakes Abdul Noor Gudrun Nygren Guiomar Oliveira Katerina Papanikolaou Jeremy R Parr Barbara Parrini Tara Paton Andrew Pickles Marion Pilorge Joseph Piven Chris P Ponting David J Posey Annemarie Poustka Fritz Poustka Aparna Prasad Jiannis Ragoussis Katy Renshaw Jessica Rickaby Wendy Roberts Kathryn Roeder Bernadette Roge Michael L Rutter Laura J Bierut John P Rice Jeff Salt Katherine Sansom Daisuke Sato Ricardo Segurado Ana F Sequeira Lili Senman Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Olaf Stein Nuala Sykes Vera Stoppioni Christina Strawbridge Raffaella Tancredi Katherine Tansey Bhooma Thiruvahindrapduram Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar Simon Wallace Kai Wang Zhouzhi Wang Thomas H Wassink Caleb Webber Rosanna Weksberg Kirsty Wing Kerstin Wittemeyer Shawn Wood Jing Wu Brian L Yaspan Danielle Zurawiecki Lonnie Zwaigenbaum Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Bernie Devlin Sean Ennis Louise Gallagher Daniel H Geschwind Michael Gill Jonathan L Haines Joachim Hallmayer Judith Miller Anthony P Monaco John I Nurnberger Andrew D Paterson Margaret A Pericak-Vance Gerard D Schellenberg Peter Szatmari Astrid M Vicente Veronica J Vieland Ellen M Wijsman Stephen W Scherer James S Sutcliffe Catalina Betancur

Nature 2010 Jul 9;466(7304):368-72. Epub 2010 Jun 9.

The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature09146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021798PMC
July 2010

Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family.

Am J Med Genet A 2009 Feb;149A(4):702-5

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32666DOI Listing
February 2009

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.

View Article

Download full-text PDF

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

Monozygotic twins of Smith-Magenis syndrome.

Am J Med Genet A 2007 Apr;143A(7):768-9

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31647DOI Listing
April 2007

Determination of structure and transcriptional regulation of CYSLTR1 and an association study with asthma and rhinitis.

Pediatr Allergy Immunol 2006 Jun;17(4):242-9

Department of Medical Genetics, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba City, Japan.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/j.1399-3038.2005.00347.x
Publisher Site
http://dx.doi.org/10.1111/j.1399-3038.2005.00347.xDOI Listing
June 2006

[Disorders of pituitary gland development].

Nihon Rinsho 2006 May;Suppl 1:206-11

National Center for Child Health and Development.

View Article

Download full-text PDF

Source
May 2006

Association of a haplotype block spanning SDAD1 gene and CXC chemokine genes with allergic rhinitis.

J Allergy Clin Immunol 2005 Mar;115(3):548-54

Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba City, Ibaraki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2004.11.034DOI Listing
March 2005

Association between a polymorphism in cysteinyl leukotriene receptor 2 on chromosome 13q14 and atopic asthma.

Pharmacogenetics 2004 Oct;14(10):683-90

Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, 305-8575, Japan.

View Article

Download full-text PDF

Source
http://pdfs.journals.lww.com/jpharmacogenetics/2004/10000/As
Web Search
October 2004

ADRB2 polymorphisms and asthma susceptibility: transmission disequilibrium test and meta-analysis.

Int Arch Allergy Immunol 2004 Jun 19;134(2):150-7. Epub 2004 May 19.

Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, 1-1-1 Tennodai, Tsukuba City, Ibaraki 305-8575, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000078648DOI Listing
June 2004