Matsuoka R - Search Results

1

Bassuk AG, Craig D, Jalali A, Mukhopadhyay A, Kim F, Charrow J, Gulbu U, Epstein LG, Bowman R, McLone D, Yagi H, Matsuoka R, Stephan DA, Kessler JA. Bassuk AG, et al. Among authors: matsuoka r. Am J Med Genet A. 2005 Feb 1;132A(4):450-3. doi: 10.1002/ajmg.a.30439. Am J Med Genet A. 2005. PMID: 15558749 No abstract available.

2

Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes.

Tang S, Hoshida H, Kamisago M, Yagi H, Momma K, Matsuoka R. Tang S, et al. Among authors: matsuoka r. Am J Med Genet A. 2009 Oct;149A(10):2216-9. doi: 10.1002/ajmg.a.32735. Am J Med Genet A. 2009. PMID: 19725129

3

A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension.

Shintani M, Yagi H, Nakayama T, Saji T, Matsuoka R. Shintani M, et al. Among authors: matsuoka r. J Med Genet. 2009 May;46(5):331-7. doi: 10.1136/jmg.2008.062703. Epub 2009 Feb 11. J Med Genet. 2009. PMID: 19211612

4

Role of TBX1 in human del22q11.2 syndrome.

Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R. Yagi H, et al. Among authors: matsuoka r. Lancet. 2003 Oct 25;362(9393):1366-73. doi: 10.1016/s0140-6736(03)14632-6. Lancet. 2003. PMID: 14585638

5

[Analysis of genetic mutation and modifier genes in pulmonary arterial hypertension].

Fujiwara M, Yagi H, Matsuoka R, Saji T. Fujiwara M, et al. Among authors: matsuoka r. Nihon Rinsho. 2008 Nov;66(11):2071-5. Nihon Rinsho. 2008. PMID: 19051722 Review. Japanese.

6

Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice.

Okubo T, Kawamura A, Takahashi J, Yagi H, Morishima M, Matsuoka R, Takada S. Okubo T, et al. Among authors: matsuoka r. Development. 2011 Jan;138(2):339-48. doi: 10.1242/dev.054056. Development. 2011. PMID: 21177346

7

Transrepression activity of T-box1 in a gene regulation network in mouse cells.

Yee KK, Yagi H, Matsuoka R, Nakanishi T, Furukawa T. Yee KK, et al. Among authors: matsuoka r. Gene. 2012 Dec 1;510(2):162-70. doi: 10.1016/j.gene.2012.09.017. Epub 2012 Sep 14. Gene. 2012. PMID: 22982415

8

Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, Kamisago M, Momma K, Katayama H, Nakagawa M, Fujiwara Y, Matsushima M, Mizuno K, Tokuyama M, Hirota H, Muneuchi J, Higashinakagawa T, Matsuoka R. Razzaque MA, et al. Among authors: matsuoka r. Nat Genet. 2007 Aug;39(8):1013-7. doi: 10.1038/ng2078. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603482

9

Molecular cytogenetic diagnosis of Williams syndrome.

Hirota H, Matsuoka R, Kimura M, Imamura S, Joh-o K, Ando M, Takao A, Momma K. Hirota H, et al. Among authors: matsuoka r. Am J Med Genet. 1996 Aug 23;64(3):473-7. doi: 10.1002/(SICI)1096-8628(19960823)64:3<473::AID-AJMG5>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8862624

10

Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

Matsuoka R, Takao A, Kimura M, Imamura S, Kondo C, Joh-o K, Ikeda K, Nishibatake M, Ando M, Momma K. Matsuoka R, et al. Am J Med Genet. 1994 Nov 15;53(3):285-9. doi: 10.1002/ajmg.1320530314. Am J Med Genet. 1994. PMID: 7856665

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