Search the collection

19 results for Migita,+Ohsuke

Sort by:

Sort by

Limit results to:

20 per page

19 results for Migita,+Ohsuke

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways
Author / Creator:Silversides, Candice K. ; Lionel, Anath C. ; Costain, Gregory ; Merico, Daniele ; Migita, Ohsuke ; Liu, Ben ; Yuen, Tracy ; Rickaby, Jessica ; Thiruvahindrapuram, Bhooma ; Marshall, Christian R. ; Scherer, Stephen W. ; Bassett, Anne S.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2012-08, Vol.8 (8), p.e1002843
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Amplicon Sequencing-Based Noninvasive Fetal Genotyping for RHD-Positive D Antigen-Negative Alleles
Author / Creator:Takahashi, Ken ; Migita, Ohsuke ; Sasaki, Aiko ; Nasu, Michiko ; Kawashima, Akihiro ; Sekizawa, Akihiko ; Sato, Taisuke ; Ito, Yuki ; Sago, Haruhiko ; Okamoto, Aikou ; Nakabayashi, Kazuhiko ; Hata, Kenichiro
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2019-10, Vol.65 (10), p.1307-1316
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia
Author / Creator:Hori Asuka ; Migita Ohsuke ; Kawaguchi-Kawata Rika ; Narumi-Kishimoto Yoko ; Takada Fumio ; Hata Kenichiro
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2021-10, Vol.8 (1)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
An approach for improvement of the accuracy of cancer gene panel testing
Author / Creator:Imoto, Kiyomi ; Yamamoto, Hiroyuki ; Ohkawa, Chie ; Shimada, Naoki ; Ikuzawa, Ryo ; Takeda, Hiroyuki ; Ohhara, Tatsuru ; Kojima, Yasuyuki ; Furuya, Naoki ; Motoyoshi, Ai ; Migita, Ohsuke ; Kuga, Asami ; Keira, Takayuki ; Wakamatsu, Hirotake ; Sato, Tomoo ; Oike, Nobuyuki ; Koike, Junki ; Yamano, Yoshihisa ; Sunakawa, Yu
Publisher:Tokyo: Springer Nature B.V
Journal title:International journal of clinical oncology, 2024-05, Vol.29 (5), p.571-581
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia
Author / Creator:Hori, Asuka ; Migita, Ohsuke ; Isogawa, Nobutaka ; Takada, Fumio ; Hata, Kenichiro
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2022-05, Vol.9 (1), p.17
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
A novel FLNA variant in a fetus with skeletal dysplasia
Author / Creator:Oshina, Kyoko ; Kamei, Yoshimasa ; Hori, Asuka ; Hasegawa, Fuyuki ; Taniguchi, Kosuke ; Migita, Ohsuke ; Itakura, Atsuo ; Hata, Kenichiro
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2022-12, Vol.9 (1), p.45
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles
Author / Creator:Hori, Asuka ; Ogata-Kawata, Hiroko ; Sasaki, Aiko ; Takahashi, Ken ; Taniguchi, Kosuke ; Migita, Ohsuke ; Kawashima, Akihiro ; Okamoto, Aikou ; Sekizawa, Akihiko ; Sago, Haruhiko ; Takada, Fumio ; Nakabayashi, Kazuhiko ; Hata, Kenichiro
Publisher:London: Springer Science and Business Media LLC
Journal title:BMC Research Notes, 2021-09, Vol.14 (1), p.1-7, Article 380
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons
Author / Creator:Taniguchi, Kosuke ; Hasegawa, Fuyuki ; Okazaki, Yuka ; Hori, Asuka ; Ogata‐Kawata, Hiroko ; Aoto, Saki ; Migita, Ohsuke ; Kawai, Tomoko ; Nakabayashi, Kazuhiko ; Okamura, Kohji ; Fukui, Kana ; Wada, Seiji ; Ozawa, Katsusuke ; Ito, Yushi ; Sago, Haruhiko ; Hata, Kenichiro
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2025-03, Vol.13 (3), p.e70092-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism
Author / Creator:Takahashi, Ken ; Sato, Taisuke ; Nishiyama, Miyuki ; Sasaki, Aiko ; Taniguchi, Kosuke ; Migita, Ohsuke ; Wada, Seiji ; Hata, Kenichiro ; Sago, Haruhiko
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1382-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Compilation of copy number variants identified in phenotypically normal and parous Japanese women
Author / Creator:Migita, Ohsuke ; Maehara, Kayoko ; Kamura, Hiromi ; Miyakoshi, Kei ; Tanaka, Mamoru ; Morokuma, Seiichi ; Fukushima, Kotaro ; Shimamoto, Tomihiro ; Saito, Shigeru ; Sago, Haruhiko ; Nishihama, Keiichiro ; Abe, Kosei ; Nakabayashi, Kazuhiko ; Umezawa, Akihiro ; Okamura, Kohji ; Hata, Kenichiro
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-06, Vol.59 (6), p.326-331
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Cytogenetic analysis of spontaneously discharged products of conception by array-based comparative genomic hybridization
Author / Creator:Ozawa, Nobuaki ; Sago, Haruhiko ; Matsuoka, Kentaro ; Maruyama, Tetsuo ; Migita, Ohsuke ; Aizu, Yoshinori ; Inazawa, Johji
Publisher:Cham: Springer International Publishing
Journal title:SpringerPlus, 2016-06, Vol.5 (1), p.874-6, Article 874
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
VaProS: a database-integration approach for protein/genome information retrieval
Author / Creator:Gojobori, Takashi ; Ikeo, Kazuho ; Katayama, Yukie ; Kawabata, Takeshi ; Kinjo, Akira R. ; Kinoshita, Kengo ; Kwon, Yeondae ; Migita, Ohsuke ; Mizutani, Hisashi ; Muraoka, Masafumi ; Nagata, Koji ; Omori, Satoshi ; Sugawara, Hideaki ; Yamada, Daichi ; Yura, Kei
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of structural and functional genomics, 2016-12, Vol.17 (4), p.69-81
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome
Author / Creator:Sato, Taisuke ; Samura, Osamu ; Kato, Noriko ; Taniguchi, Kosuke ; Takahashi, Ken ; Ito, Yuki ; Aoki, Hiroaki ; Kobayashi, Masahisa ; Migita, Ohsuke ; Okamoto, Aikou ; Hata, Kenichiro
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2018-01, Vol.5, p.1-5
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
ADRB2 Polymorphisms and Asthma Susceptibility: Transmission Disequilibrium Test and Meta-Analysis
Author / Creator:Migita, Ohsuke ; Noguchi, Emiko ; Jian, Zhang ; Shibasaki, Masanao ; Migita, Takuo ; Ichikawa, Kunio ; Matsui, Akira ; Arinami, Tadao
Publisher:Basel, Switzerland: S. Karger AG
Journal title:International Archives of Allergy and Immunology, 2004-01, Vol.134 (2), p.150-157
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
Author / Creator:Minatogawa, Mari ; Unzaki, Ai ; Morisaki, Hiroko ; Syx, Delfien ; Sonoda, Tohru ; Janecke, Andreas R ; Slavotinek, Anne ; Voermans, Nicol C ; Lacassie, Yves ; Mendoza-Londono, Roberto ; Wierenga, Klaas J ; Jayakar, Parul ; Gahl, William A ; Tifft, Cynthia J ; Figuera, Luis E ; Hilhorst-Hofstee, Yvonne ; Maugeri, Alessandra ; Ishikawa, Ken ; Kobayashi, Tomoko ; Aoki, Yoko ; Ohura, Toshihiro ; Kawame, Hiroshi ; Kono, Michihiro ; Mochida, Kosuke ; Tokorodani, Chiho ; Kikkawa, Kiyoshi ; Morisaki, Takayuki ; Kobayashi, Tetsuyuki ; Nakane, Takaya ; Kubo, Akiharu ; Ranells, Judith D ; Migita, Ohsuke ; Sobey, Glenda ; Kaur, Anupriya ; Ishikawa, Masumi ; Yamaguchi, Tomomi ; Matsumoto, Naomichi ; Malfait, Fransiska ; Miyake, Noriko ; Kosho, Tomoki
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2022-09, Vol.59 (9), p.865-877
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
Author / Creator:Yaoita, Masako ; Niihori, Tetsuya ; Mizuno, Seiji ; Okamoto, Nobuhiko ; Hayashi, Shion ; Watanabe, Atsushi ; Yokozawa, Masato ; Suzumura, Hiroshi ; Nakahara, Akihiko ; Nakano, Yusuke ; Hokosaki, Tatsunori ; Ohmori, Ayumi ; Sawada, Hirofumi ; Migita, Ohsuke ; Mima, Aya ; Lapunzina, Pablo ; Santos-Simarro, Fernando ; García-Miñaúr, Sixto ; Ogata, Tsutomu ; Kawame, Hiroshi ; Kurosawa, Kenji ; Ohashi, Hirofumi ; Inoue, Shin-ichi ; Matsubara, Yoichi ; Kure, Shigeo ; Aoki, Yoko
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2016-02, Vol.135 (2), p.209-222
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction
Author / Creator:Miyashita, Naohiro ; Onozawa, Masahiro ; Hayasaka, Koji ; Yamada, Takahiro ; Migita, Ohsuke ; Hata, Kenichiro ; Okada, Kohei ; Goto, Hideki ; Nakagawa, Masao ; Hashimoto, Daigo ; Kahata, Kaoru ; Kondo, Takeshi ; Kunishima, Shinji ; Teshima, Takanori
Publisher:Berlin: Springer Nature B.V
Journal title:Annals of hematology, 2018-04, Vol.97 (4), p.629-640
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorder
Author / Creator:Pinto, Dalila ; Pagnamenta, Alistair T. ; Klei, Lambertus ; Anney, Richard ; Merico, Daniele ; Regan, Regina ; Conroy, Judith ; Magalhaes, Tiago R. ; Correia, Catarina ; Abrahams, Brett S. ; Almeida, Joana ; Bacchelli, Elena ; Bader, Gary D. ; Bailey, Anthony J. ; Baird, Gillian ; Battaglia, Agatino ; Berney, Tom ; Bolshakova, Nadia ; Bölte, Sven ; Bolton, Patrick F. ; Bourgeron, Thomas ; Brennan, Sean ; Brian, Jessica ; Bryson, Susan E. ; Carson, Andrew R. ; Casallo, Guillermo ; Casey, Jillian ; Cochrane, Lynne ; Corsello, Christina ; Crawford, Emily L. ; Crossett, Andrew ; Dawson, Geraldine ; de Jonge, Maretha ; Delorme, Richard ; Drmic, Irene ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Farrar, Penny ; Fernandez, Bridget A. ; Filipa, Ana ; Folstein, Susan E. ; Fombonne, Eric ; Freitag, Christine M. ; Gilbert, John ; Gillberg, Christopher ; Glessner, Joseph T. ; Goldberg, Jeremy ; Green, Andrew ; Green, Jonathan ; Guter, Stephen J. ; Hakonarson, Hakon ; Heron, Elizabeth A. ; Hill, Matthew ; Holt, Richard ; Howe, Jennifer L. ; Hughes, Gillian ; Hus, Vanessa ; Igliozzi, Roberta ; Kim, Cecilia ; Klauck, Sabine M. ; Kolevzon, Alexander ; Korvatska, Olena ; Kustanovich, Vlad ; Lajonchere, Clara M. ; Lamb, Janine A. ; Laskawiec, Magdalena ; Leboyer, Marion ; Le Couteur, Ann ; Leventhal, Bennett L. ; Lionel, Anath C. ; Liu, Xiao-Qing ; Lord, Catherine ; Lotspeich, Linda ; Lund, Sabata C. ; Maestrini, Elena ; Mahoney, William ; Mantoulan, Carine ; Marshall, Christian R. ; McConachie, Helen ; McDougle, Christopher J. ; McGrath, Jane ; McMahon, William M. ; Merikangas, Alison ; Migita, Ohsuke ; Minshew, Nancy J. ; Mirza, Ghazala K. ; Munson, Jeff ; Nelson, Stanley F. ; Noakes, Carolyn ; Noor, Abdul ; Nygren, Gudrun ; Oliveira, Guiomar ; Papanikolaou, Katerina ; Parr, Jeremy R. ; Parrini, Barbara ; Paton, Tara ; Pickles, Andrew ; Pilorge, Marion ; Piven, Joseph
Journal title:Nature (London), 2010-06, Vol.466 (7304), p.368-372
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesFull Text
DNA methylation signature in NSD2 loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome
Author / Creator:Kawai, Tomoko ; Kinoshita, Shiori ; Takayama, Yuka ; Onishi, Eriko ; Kamura, Hiromi ; Kojima, Kazuaki ; Kikuchi, Hiroki ; Terao, Miho ; Sugawara, Tohru ; Migita, Ohsuke ; Kagami, Masayo ; Isojima, Tsuyoshi ; Yamaguchi, Yu ; Wakui, Keiko ; Ohashi, Hirofumi ; Shimizu, Kenji ; Mizuno, Seiji ; Okamoto, Nobuhiko ; Fukushima, Yoshimitsu ; Takada, Fumio ; Kosaki, Kenjiro ; Takada, Shuji ; Akutsu, Hidenori ; Ura, Kiyoe ; Nakabayashi, Kazuhiko ; Hata, Kenichiro
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2023-01
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Export record to excel

Export this record

Export record to excel

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

Export this record

Export record to excel

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

Export this record

Export record to excel

A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia

Export this record

Export record to excel

An approach for improvement of the accuracy of cancer gene panel testing

Export this record

Export record to excel

A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia

Export this record

Export record to excel

A novel FLNA variant in a fetus with skeletal dysplasia

Export this record

Export record to excel

Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles

Export this record

Export record to excel

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons

Export this record

Export record to excel

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

Export this record

Export record to excel

Compilation of copy number variants identified in phenotypically normal and parous Japanese women

Export this record

Export record to excel

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

Export this record

Export record to excel

VaProS: a database-integration approach for protein/genome information retrieval

Export this record

Export record to excel

Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome

Export this record

Export record to excel

ADRB2 Polymorphisms and Asthma Susceptibility: Transmission Disequilibrium Test and Meta-Analysis

Export this record

Export record to excel

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Export this record

Export record to excel

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

Export this record

Export record to excel

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

Export this record

Export record to excel

Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorder

Export this record

Export record to excel

DNA methylation signature in NSD2 loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome

Refine your search