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

Research output: Contribution to journal › Article › peer-review

81 Citations (Scopus)

Original language	English
Pages (from-to)	387-393
Number of pages	7
Journal	Journal of Medical Genetics
Volume	41
Issue number	5
DOIs	https://doi.org/10.1136/jmg.2003.016154
Publication status	Published - 05-2004
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1136/jmg.2003.016154

Cite this

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 “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 . ",

year = "2004",

month = may,

doi = "10.1136/jmg.2003.016154",

language = "English",

volume = "41",

pages = "387--393",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "5",

}

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

UR - https://www.scopus.com/pages/publications/2342623334

UR - https://www.scopus.com/pages/publications/2342623334#tab=citedBy

U2 - 10.1136/jmg.2003.016154

DO - 10.1136/jmg.2003.016154

M3 - Article

C2 - 15121779

AN - SCOPUS:2342623334

SN - 0022-2593

VL - 41

SP - 387

EP - 393

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 5

ER -

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

All Science Journal Classification (ASJC) codes

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