Fu XJ - Search Results

1

Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY.

Nozu K, Iijima K, Ohtsuka Y, Fu XJ, Kaito H, Nakanishi K, Vorechovsky I. Nozu K, et al. Among authors: fu xj. Mol Genet Genomic Med. 2014 Sep;2(5):451-3. doi: 10.1002/mgg3.89. Epub 2014 May 28. Mol Genet Genomic Med. 2014. PMID: 25333070 Free PMC article.

2

X-linked Alport syndrome caused by splicing mutations in COL4A5.

Nozu K, Vorechovsky I, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Hashimoto F, Kamei K, Ito S, Kaku Y, Imasawa T, Ushijima K, Shimizu J, Makita Y, Konomoto T, Yoshikawa N, Iijima K. Nozu K, et al. Among authors: fu xj. Clin J Am Soc Nephrol. 2014 Nov 7;9(11):1958-64. doi: 10.2215/CJN.04140414. Epub 2014 Sep 2. Clin J Am Soc Nephrol. 2014. PMID: 25183659 Free PMC article.

3

Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.

Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, Sekine T, Igarashi T, Nakanishi K, Yoshikawa N, Iijima K, Matsuo M. Nozu K, et al. Among authors: fu xj. J Med Genet. 2008 Mar;45(3):182-6. doi: 10.1136/jmg.2007.052944. J Med Genet. 2008. PMID: 18310267

4

Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.

Krol RP, Nozu K, Nakanishi K, Iijima K, Takeshima Y, Fu XJ, Nozu Y, Kaito H, Kanda K, Matsuo M, Yoshikawa N. Krol RP, et al. Among authors: fu xj. Nephrol Dial Transplant. 2008 Aug;23(8):2525-30. doi: 10.1093/ndt/gfn005. Epub 2008 Mar 10. Nephrol Dial Transplant. 2008. PMID: 18332068

5

In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.

Nozu K, Iijima K, Kawai K, Nozu Y, Nishida A, Takeshima Y, Fu XJ, Hashimura Y, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M. Nozu K, et al. Among authors: fu xj. Hum Genet. 2009 Oct;126(4):533-8. doi: 10.1007/s00439-009-0697-7. Epub 2009 Jun 10. Hum Genet. 2009. PMID: 19513753

6

A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome.

Nozu K, Iijima K, Nozu Y, Ikegami E, Imai T, Fu XJ, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M. Nozu K, et al. Among authors: fu xj. Pediatr Res. 2009 Nov;66(5):590-3. doi: 10.1203/PDR.0b013e3181b9b4d3. Pediatr Res. 2009. PMID: 19668106

7

Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain.

Hashimura Y, Nozu K, Kaito H, Nakanishi K, Fu XJ, Ohtsubo H, Hashimoto F, Oka M, Ninchoji T, Ishimori S, Morisada N, Matsunoshita N, Kamiyoshi N, Yoshikawa N, Iijima K. Hashimura Y, et al. Among authors: fu xj. Kidney Int. 2014 May;85(5):1208-13. doi: 10.1038/ki.2013.479. Epub 2013 Dec 4. Kidney Int. 2014. PMID: 24304881 Free article.

8

Natural history of genetically proven autosomal recessive Alport syndrome.

Oka M, Nozu K, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Morisada N, Yan K, Matsuo M, Yoshikawa N, Vorechovsky I, Iijima K. Oka M, et al. Among authors: fu xj. Pediatr Nephrol. 2014 Sep;29(9):1535-44. doi: 10.1007/s00467-014-2797-4. Epub 2014 Mar 15. Pediatr Nephrol. 2014. PMID: 24633401

9

Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.

Matsunoshita N, Nozu K, Shono A, Nozu Y, Fu XJ, Morisada N, Kamiyoshi N, Ohtsubo H, Ninchoji T, Minamikawa S, Yamamura T, Nakanishi K, Yoshikawa N, Shima Y, Kaito H, Iijima K. Matsunoshita N, et al. Among authors: fu xj. Genet Med. 2016 Feb;18(2):180-8. doi: 10.1038/gim.2015.56. Epub 2015 Apr 16. Genet Med. 2016. PMID: 25880437 Free article.

10

Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.

Fu XJ, Nozu K, Kaito H, Ninchoji T, Morisada N, Nakanishi K, Yoshikawa N, Ohtsubo H, Matsunoshita N, Kamiyoshi N, Matsumura C, Takagi N, Maekawa K, Taniguchi-Ikeda M, Iijima K. Fu XJ, et al. Eur J Hum Genet. 2016 Mar;24(3):387-91. doi: 10.1038/ejhg.2015.113. Epub 2015 May 27. Eur J Hum Genet. 2016. PMID: 26014433 Free PMC article.

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