Krol RP - Search Results

1

Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome.

Kaito H, Nozu K, Fu XJ, Kamioka I, Fujita T, Kanda K, Krol RP, Suminaga R, Ishida A, Iijima K, Matsuo M. Kaito H, et al. Among authors: krol rp. Pediatr Res. 2007 Apr;61(4):502-5. doi: 10.1203/pdr.0b013e318031935a. Pediatr Res. 2007. PMID: 17414160

2

Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR.

Nozu K, Fu XJ, Nakanishi K, Yoshikawa N, Kaito H, Kanda K, Krol RP, Miyashita R, Kamitsuji H, Kanda S, Hayashi Y, Satomura K, Shimizu N, Iijima K, Matsuo M. Nozu K, et al. Among authors: krol rp. Pediatr Res. 2007 Sep;62(3):364-9. doi: 10.1203/PDR.0b013e318123fb90. Pediatr Res. 2007. PMID: 17622951

3

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. Nephrol Dial Transplant. 2008 Aug;23(8):2525-30. doi: 10.1093/ndt/gfn005. Epub 2008 Mar 10. Nephrol Dial Transplant. 2008. PMID: 18332068

4

A family with X-linked benign familial hematuria.

Kaneko K, Tanaka S, Hasui M, Nozu K, Krol RP, Iijima K, Sugimoto K, Takemura T. Kaneko K, et al. Among authors: krol rp. Pediatr Nephrol. 2010 Mar;25(3):545-8. doi: 10.1007/s00467-009-1370-z. Pediatr Nephrol. 2010. PMID: 19937058

5

Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome.

Nozu K, Krol RP, Nakanishi K, Yoshikawa N, Nozu Y, Ohtsuka Y, Iijima K, Matsuo M. Nozu K, et al. Among authors: krol rp. Pediatr Nephrol. 2009 Sep;24(9):1773-4. doi: 10.1007/s00467-009-1122-0. Epub 2009 Jan 24. Pediatr Nephrol. 2009. PMID: 19169714 No abstract available.

6

Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease.

Teye K, Hamada T, Krol RP, Numata S, Ishii N, Matsuda M, Ohata C, Furumura M, Hashimoto T. Teye K, et al. Among authors: krol rp. J Dermatol Sci. 2014 Jul;75(1):36-42. doi: 10.1016/j.jdermsci.2014.04.003. Epub 2014 Apr 15. J Dermatol Sci. 2014. PMID: 24794518

7

A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.

Numata S, Teye K, Krol RP, Okamatsu Y, Hashikawa K, Matsuda M, Fortugno P, Di Zenzo G, Castiglia D, Zambruno G, Hamada T, Hashimoto T. Numata S, et al. Among authors: krol rp. Exp Dermatol. 2016 Jul;25(7):568-70. doi: 10.1111/exd.13011. Epub 2016 May 20. Exp Dermatol. 2016. PMID: 26997095 No abstract available.

8

Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia.

Numata S, Teye K, Krol RP, Karashima T, Fukuda S, Matsuda M, Ishii N, Furumura M, Ohata C, Saminathan SD, Ariffin R, Pramono ZA, Leong KF, Hamada T, Hashimoto T. Numata S, et al. Among authors: krol rp. J Dermatol Sci. 2015 Apr;78(1):82-5. doi: 10.1016/j.jdermsci.2015.02.006. Epub 2015 Feb 19. J Dermatol Sci. 2015. PMID: 25766764 No abstract available.

9

A founder deletion of corneodesmosin gene is prevalent in Japanese patients with peeling skin disease: Identification of 2 new cases.

Teye K, Suga Y, Numata S, Soejima M, Ishii N, Krol RP, Ohata C, Matsuda M, Honma M, Ishida-Yamamoto A, Hamada T, Koda Y, Hashimoto T. Teye K, et al. Among authors: krol rp. J Dermatol Sci. 2016 May;82(2):134-7. doi: 10.1016/j.jdermsci.2016.01.012. Epub 2016 Jan 29. J Dermatol Sci. 2016. PMID: 26867961 No abstract available.

10

Prevalence of filaggrin gene mutations in patients with atopic dermatitis and ichthyosis vulgaris in Kyushu area of Japan and South Korea.

Teye K, Numata S, Krol RP, Ishii N, Matsuda M, Lee JB, Hamada T, Hashimoto T. Teye K, et al. Among authors: krol rp. J Dermatol Sci. 2017 May;86(2):174-177. doi: 10.1016/j.jdermsci.2017.01.009. Epub 2017 Jan 22. J Dermatol Sci. 2017. PMID: 28143684 No abstract available.

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