Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1

N. Ishihara; K. Yamada; Y. Yamada; K. Miura; J. Kato; N. Kuwabara; Y. Hara; Y. Kobayashi; K. Hoshino; Y. Nomura; M. Mimaki; K. Ohya; M. Matsushima; H. Nitta; K. Tanaka; M. Segawa; T. Ohki; T. Ezoe; T. Kumagai; A. Onuma; T. Kuroda; M. Yoneda; T. Yamanaka; M. Saeki; M. Segawa; T. Saji; M. Nagaya; N. Wakamatsu

doi:10.1136/jmg.2003.016154

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1

N. Ishihara
, K. Yamada
, Y. Yamada
, K. Miura
, J. Kato
, N. Kuwabara
, Y. Hara
, Y. Kobayashi
, K. Hoshino
, Y. Nomura
, M. Mimaki
, K. Ohya
, M. Matsushima
, H. Nitta
, K. Tanaka
, M. Segawa
, T. Ohki
, T. Ezoe
, T. Kumagai
, A. Onuma

T. Kuroda, M. Yoneda, T. Yamanaka, M. Saeki, M. Segawa, T. Saji, M. Nagaya, N. Wakamatsu

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

82 被引用数 (Scopus)

本文言語	英語
ページ（範囲）	387-393
ページ数	7
ジャーナル	Journal of Medical Genetics
巻	41
号	5
DOI	https://doi.org/10.1136/jmg.2003.016154
出版ステータス	出版済み - 05-2004
外部発表	はい

All Science Journal Classification (ASJC) codes

遺伝学
遺伝学（臨床）

文献へのアクセス

10.1136/jmg.2003.016154

他のファイルとリンク

引用スタイル

Ishihara, N., Yamada, K., Yamada, Y., Miura, K., Kato, J., Kuwabara, N., Hara, Y., Kobayashi, Y., Hoshino, K., Nomura, Y., Mimaki, M., Ohya, K., Matsushima, M., Nitta, H., Tanaka, K., Segawa, M., Ohki, T., Ezoe, T., Kumagai, T., ... Wakamatsu, N. (2004). Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. Journal of Medical Genetics, 41(5), 387-393. https://doi.org/10.1136/jmg.2003.016154

@article{1768bc93b6064b09a3a6d69fc740f13a,

title = "Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1",

author = "N. Ishihara and K. Yamada and Y. Yamada and K. Miura and J. Kato and N. Kuwabara and Y. Hara and Y. Kobayashi and K. Hoshino and Y. Nomura and M. Mimaki and K. Ohya and M. Matsushima and H. Nitta and K. Tanaka and M. Segawa and T. Ohki and T. Ezoe and T. Kumagai and A. Onuma and T. Kuroda and M. Yoneda and T. Yamanaka and M. Saeki and M. Segawa and T. Saji and M. Nagaya and N. Wakamatsu",

note = "Funding Information: This work was supported by project {\textquotedblleft}AIProcMat@N2020-Advanced Industrial Processes and Materials for a Sustainable Northern Region of Portugal 2020{\textquotedblright} , with the reference NORTE-01-0145-FEDER-000006 , supported by Norte Portugal Regional Operational Programme (NORTE 2020) , under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (ERDF) and of Project POCI-01-0145-FEDER-006984 {\textendash} Associate Laboratory LSRE-LCM funded by ERDF through COMPETE2020-Programa Operacional Competitividade e Internacionalizacao (POCI) {\textendash} and by national funds through FCT-Fundacao para a Ciencia e a Tecnologia. R.P. Rocha acknowledges FCT grant SFRH/BD/95411/2013 . ",

year = "2004",

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doi = "10.1136/jmg.2003.016154",

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Ishihara, N, Yamada, K, Yamada, Y, Miura, K, Kato, J, Kuwabara, N, Hara, Y, Kobayashi, Y, Hoshino, K, Nomura, Y, Mimaki, M, Ohya, K, Matsushima, M, Nitta, H, Tanaka, K, Segawa, M, Ohki, T, Ezoe, T, Kumagai, T, Onuma, A, Kuroda, T, Yoneda, M, Yamanaka, T, Saeki, M, Segawa, M, Saji, T, Nagaya, M & Wakamatsu, N 2004, 'Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1', Journal of Medical Genetics, vol. 41, no. 5, pp. 387-393. https://doi.org/10.1136/jmg.2003.016154

TY - JOUR

T1 - Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1

AU - Ishihara, N.

AU - Yamada, K.

AU - Yamada, Y.

AU - Miura, K.

AU - Kato, J.

AU - Kuwabara, N.

AU - Hara, Y.

AU - Kobayashi, Y.

AU - Hoshino, K.

AU - Nomura, Y.

AU - Mimaki, M.

AU - Ohya, K.

AU - Matsushima, M.

AU - Nitta, H.

AU - Tanaka, K.

AU - Segawa, M.

AU - Ohki, T.

AU - Ezoe, T.

AU - Kumagai, T.

AU - Onuma, A.

AU - Kuroda, T.

AU - Yoneda, M.

AU - Yamanaka, T.

AU - Saeki, M.

AU - Segawa, M.

AU - Saji, T.

AU - Nagaya, M.

AU - Wakamatsu, N.

N1 - Funding Information: This work was supported by project “AIProcMat@N2020-Advanced Industrial Processes and Materials for a Sustainable Northern Region of Portugal 2020” , with the reference NORTE-01-0145-FEDER-000006 , supported by Norte Portugal Regional Operational Programme (NORTE 2020) , under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (ERDF) and of Project POCI-01-0145-FEDER-006984 – Associate Laboratory LSRE-LCM funded by ERDF through COMPETE2020-Programa Operacional Competitividade e Internacionalizacao (POCI) – and by national funds through FCT-Fundacao para a Ciencia e a Tecnologia. R.P. Rocha acknowledges FCT grant SFRH/BD/95411/2013 .

PY - 2004/5

Y1 - 2004/5

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DO - 10.1136/jmg.2003.016154

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AN - SCOPUS:2342623334

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JO - Journal of Medical Genetics

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