Kondo H - Search Results

1

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: kondo h. Am J Hum Genet. 2010 Feb 12;86(2):248-53. doi: 10.1016/j.ajhg.2010.01.012. Am J Hum Genet. 2010. PMID: 20159112 Free PMC article.

2

Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis.

Kondo H, Ohno K, Tahira T, Hayashi H, Oshima K, Hayashi K. Kondo H, et al. Hum Genet. 2001 May;108(5):368-75. doi: 10.1007/s004390100503. Hum Genet. 2001. PMID: 11409862

3

Diagnosis of autosomal dominant retinitis pigmentosa by linkage-based exclusion screening with multiple locus-specific microsatellite markers.

Kondo H, Tahira T, Mizota A, Adachi-Usami E, Oshima K, Hayashi K. Kondo H, et al. Invest Ophthalmol Vis Sci. 2003 Mar;44(3):1275-81. doi: 10.1167/iovs.02-0895. Invest Ophthalmol Vis Sci. 2003. PMID: 12601059

4

Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

Kondo H, Hayashi H, Oshima K, Tahira T, Hayashi K. Kondo H, et al. Br J Ophthalmol. 2003 Oct;87(10):1291-5. doi: 10.1136/bjo.87.10.1291. Br J Ophthalmol. 2003. PMID: 14507768 Free PMC article.

5

Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H. Qin M, et al. Among authors: kondo h. Hum Mutat. 2005 Aug;26(2):104-12. doi: 10.1002/humu.20191. Hum Mutat. 2005. PMID: 15981244

6

Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.

Kondo H, Qin M, Kusaka S, Tahira T, Hasebe H, Hayashi H, Uchio E, Hayashi K. Kondo H, et al. Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1276-82. doi: 10.1167/iovs.06-1042. Invest Ophthalmol Vis Sci. 2007. PMID: 17325173

7

Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.

Qin M, Kondo H, Tahira T, Hayashi K. Qin M, et al. Among authors: kondo h. Hum Genet. 2008 Jan;122(6):615-23. doi: 10.1007/s00439-007-0438-8. Epub 2007 Oct 23. Hum Genet. 2008. PMID: 17955262

8

Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene.

Kondo H, Qin M, Tahira T, Uchio E, Hayashi K. Kondo H, et al. Ophthalmic Genet. 2007 Dec;28(4):220-3. doi: 10.1080/13816810701663543. Ophthalmic Genet. 2007. PMID: 18161623

9

Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy.

Kondo H, Kusaka S, Yoshinaga A, Uchio E, Tawara A, Hayashi K, Tahira T. Kondo H, et al. Am J Ophthalmol. 2011 Jun;151(6):1095-1100.e1. doi: 10.1016/j.ajo.2010.11.026. Epub 2011 Feb 19. Am J Ophthalmol. 2011. PMID: 21334594

10

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.

Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP. Collin RW, et al. Among authors: kondo h. Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9856-61. doi: 10.1073/pnas.1220864110. Epub 2013 May 28. Proc Natl Acad Sci U S A. 2013. PMID: 23716654 Free PMC article.

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