Publications by authors named "Ohsuke Migita"

29Publications

Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism.

Mol Genet Genomic Med 2020 Sep 25;8(9):e1382. Epub 2020 Jun 25.

Center for Maternal-Fetal-Neonatal and Reproductive Medicine, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan.

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http://dx.doi.org/10.1002/mgg3.1382DOI Listing
September 2020

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

Eur J Med Genet 2020 Mar 10;63(3):103764. Epub 2019 Sep 10.

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

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http://dx.doi.org/10.1016/j.ejmg.2019.103764DOI Listing
March 2020

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

Clin Chem 2019 10 5;65(10):1307-1316. Epub 2019 Sep 5.

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

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http://dx.doi.org/10.1373/clinchem.2019.307074DOI Listing
October 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:

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

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

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.

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

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

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

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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.

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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.

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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.

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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.

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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.

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http://hmg.oxfordjournals.org/content/19/20/4072.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddq307
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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.

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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.

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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.

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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.

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

[Disorders of pituitary gland development].

Nihon Rinsho 2006 May;Suppl 1:206-11

National Center for Child Health and Development.

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May 2006

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.

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

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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.

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http://pdfs.journals.lww.com/jpharmacogenetics/2004/10000/As
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http://dx.doi.org/10.1097/00008571-200410000-00006DOI Listing
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.

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