Establishment of a novel syndrome caused by common genomic aberration and investigation of the etiology
Project/Area Number |
23791155
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Pediatrics
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Research Institution | Tokyo Medical and Dental University |
Principal Investigator |
HAYASHI Shin 東京医科歯科大学, 硬組織疾患ゲノムセンター, 特任講師 (50596244)
|
Project Period (FY) |
2011 – 2012
|
Project Status |
Completed (Fiscal Year 2012)
|
Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2011: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
|
Keywords | 遺伝 / 先天異常学 / 新規症候群 / アレイCGH / 先天異常疾患 / 発達遅滞 / 疾患原因遺伝子 / 遺伝・先天異常学 |
Research Abstract |
We have recruited undiagnosed cases with multiple congenital anomalies and mental retardation of unknown etiology and screened their genomic aberration by array CGH and other analyzing techniques. In this study we selected five cases of a possibly novel syndrome with resembling phenotypes to investigate a causative gene.
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Report
(3 results)
Research Products
(23 results)
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[Journal Article] Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.2012
Author(s)
Takanashi J, Okamoto N, Yamamoto Y, Hayashi S, Arai H, Takahashi Y, Maruyama K, Mizuno S, Shimakawa S, Ono H, Oyanagi R, Kubo S, Barkovich AJ, Inazawa J.
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Journal Title
Am J Med Genet A.
Volume: 158A
Issue: 12
Pages: 3112-8
DOI
Related Report
Peer Reviewed
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[Journal Article] The incidence of hypoplasia of the corpus callosum in patients with dup(X)(q28) involving MECP2 is associated with the location of distal breakpoints.2012
Author(s)
Honda S, Hayashi S, Nakane T, Imoto I, Kurosawa K, Mizuno S, Okamoto N, Kato M, Kubota T, Nakagawa E, Goto Y, Inazawa J.
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Journal Title
Am J Med Genet A.
Volume: 158A
Pages: 1292-303
Related Report
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[Journal Article] Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion2012
Author(s)
Okamoto N, Hayashi S, Masui A, Kosaki R, Oguri I, Hasegawa T, Imoto I, Makita Y, Hata A, Moriyama K, Inazawa J
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Journal Title
J Hum Genet
Volume: 57(3)
Issue: 3
Pages: 191-196
DOI
Related Report
Peer Reviewed
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[Journal Article] Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midfacial hypoplasia.2012
Author(s)
Okamoto N, Hayashi S, Masui A, Kosaki R, Oguri I, Hasegawa T, Imoto I, Makita Y, Hata A, Moriyama K, Inazawa J.
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Journal Title
J Hum Genet
Volume: 57
Pages: 191-196
Related Report
Peer Reviewed
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[Journal Article] Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies2011
Author(s)
Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J
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Journal Title
J Hum Genet
Volume: 56
Issue: 2
Pages: 110-124
DOI
Related Report
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