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452 results

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Page 1
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.
Nakatani N, Tamura A, Hanafusa H, Nino N, Yamamoto N, Awano H, Tanaka Y, Morisada N, Uemura S, Saito A, Hasegawa D, Nozu K, Kosaka Y. Nakatani N, et al. Among authors: nozu k. Hum Genome Var. 2024 Mar 22;11(1):15. doi: 10.1038/s41439-024-00271-2. Hum Genome Var. 2024. PMID: 38514645 Free PMC article.
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion.
Morisada N, Rendtorff ND, Nozu K, Morishita T, Miyakawa T, Matsumoto T, Hisano S, Iijima K, Tranebjaerg L, Shirahata A, Matsuo M, Kusuhara K. Morisada N, et al. Among authors: nozu k. Pediatr Nephrol. 2010 Jul;25(7):1343-8. doi: 10.1007/s00467-010-1445-x. Epub 2010 Feb 4. Pediatr Nephrol. 2010. PMID: 20130917
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: nozu k. Pediatr Nephrol. 2014 Sep;29(9):1535-44. doi: 10.1007/s00467-014-2797-4. Epub 2014 Mar 15. Pediatr Nephrol. 2014. PMID: 24633401
16q12 microdeletion syndrome in two Japanese boys.
Morisada N, Sekine T, Ishimori S, Tsuda M, Adachi M, Nozu K, Nakanishi K, Tanaka R, Iijima K. Morisada N, et al. Among authors: nozu k. Pediatr Int. 2014 Oct;56(5):e75-8. doi: 10.1111/ped.12426. Pediatr Int. 2014. PMID: 25336016
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: nozu k, nozu y. 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.
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. Among authors: nozu k. 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.
452 results