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A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.
Fu XJ, Morisada N, Hashimoto F, Taniguchi-Ikeda M, Hashimura Y, Ohtsubo H, Ninchoji T, Kaito H, Nozu K, Takahashi E, Nakanishi K, Kurahashi H, Iijima K. Fu XJ, et al. Among authors: hashimoto f. Hum Genome Var. 2014 Aug 7;1:14006. doi: 10.1038/hgv.2014.6. eCollection 2014. Hum Genome Var. 2014. PMID: 27081500 Free PMC article.
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: hashimoto f. 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.
Combined Alport syndrome and Klinefelter syndrome.
Nishida M, Hashimoto F, Kaito H, Nozu K, Iijima K, Asada D, Hamaoka K. Nishida M, et al. Among authors: hashimoto f. Pediatr Int. 2016 Feb;58(2):152-5. doi: 10.1111/ped.12743. Epub 2015 Nov 10. Pediatr Int. 2016. PMID: 26554353
Renal transplantations from parents to siblings with autosomal recessive Alport syndrome caused by a rearrangement in an intronic antisense Alu element in the COL4A3 gene led to different outcomes.
Kaimori JY, Ichimaru N, Isaka Y, Hashimoto F, Fu X, Hashimura Y, Kaito H, Iijima K, Kyo M, Namba T, Obi Y, Hatanaka M, Matsui I, Takabatake Y, Okumi M, Yazawa K, Nonomura N, Rakugi H, Takahara S. Kaimori JY, et al. Among authors: hashimoto f. CEN Case Rep. 2013 May;2(1):98-101. doi: 10.1007/s13730-012-0049-7. Epub 2012 Dec 9. CEN Case Rep. 2013. PMID: 28509228 Free PMC article.
210 results