Akiyama M - Search Results

1

A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.

Arita K, Nanda A, Wessagowit V, Akiyama M, Alsaleh QA, McGrath JA. Arita K, et al. Among authors: akiyama m. Br J Dermatol. 2008 Jan;158(1):168-71. doi: 10.1111/j.1365-2133.2007.08232.x. Epub 2007 Oct 26. Br J Dermatol. 2008. PMID: 17970811 No abstract available.

2

Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.

Takeichi T, Nanda A, Yang HS, Hsu CK, Lee JY, Al-Ajmi H, Akiyama M, Simpson MA, McGrath JA. Takeichi T, et al. Among authors: akiyama m. Br J Dermatol. 2017 Feb;176(2):534-536. doi: 10.1111/bjd.14845. Epub 2016 Dec 22. Br J Dermatol. 2017. PMID: 27406236 No abstract available.

3

Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.

Nemoto-Hasebe I, Akiyama M, Kudo S, Ishiko A, Tanaka A, Arita K, Shimizu H. Nemoto-Hasebe I, et al. Among authors: akiyama m. Br J Dermatol. 2009 Aug;161(2):452-5. doi: 10.1111/j.1365-2133.2009.09137.x. Epub 2009 Mar 30. Br J Dermatol. 2009. PMID: 19416251

4

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.

Takeichi T, Liu L, Fong K, Ozoemena L, McMillan JR, Salam A, Campbell P, Akiyama M, Mellerio JE, McLean WH, Simpson MA, McGrath JA. Takeichi T, et al. Among authors: akiyama m. Br J Dermatol. 2015 Jan;172(1):94-100. doi: 10.1111/bjd.13190. Epub 2014 Nov 19. Br J Dermatol. 2015. PMID: 24947307

5

Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.

Takeichi T, Nanda A, Liu L, Aristodemou S, McMillan JR, Sugiura K, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA. Takeichi T, et al. Among authors: akiyama m. Br J Dermatol. 2015 Feb;172(2):527-31. doi: 10.1111/bjd.13294. Epub 2014 Dec 30. Br J Dermatol. 2015. PMID: 25059916

6

Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).

Takeichi T, Hsu CK, Yang HS, Chen HY, Wong TW, Tsai WL, Chao SC, Lee JY, Akiyama M, Simpson MA, McGrath JA. Takeichi T, et al. Among authors: akiyama m. Br J Dermatol. 2015 Apr;172(4):1111-5. doi: 10.1111/bjd.13413. Epub 2015 Feb 27. Br J Dermatol. 2015. PMID: 25234635

7

Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.

Takeichi T, Nanda A, Aristodemou S, McMillan JR, Lee J, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA. Takeichi T, et al. Among authors: akiyama m. Br J Dermatol. 2015;172(5):1407-11. doi: 10.1111/bjd.13473. Epub 2015 Mar 7. Br J Dermatol. 2015. PMID: 25308318

8

Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.

Fong K, Takeichi T, Liu L, Pramanik R, Lee J, Akiyama M, McGrath JA. Fong K, et al. Among authors: akiyama m. Clin Exp Dermatol. 2015 Jul;40(5):529-32. doi: 10.1111/ced.12587. Epub 2015 Feb 16. Clin Exp Dermatol. 2015. PMID: 25683132

9

Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5.

Abdul-Wahab A, Takeichi T, Liu L, Lomas D, Hughes B, Akiyama M, McGrath JA, Mellerio JE. Abdul-Wahab A, et al. Among authors: akiyama m. Br J Dermatol. 2016 Feb;174(2):430-2. doi: 10.1111/bjd.13931. Epub 2015 Nov 12. Br J Dermatol. 2016. PMID: 26032342 No abstract available.

10

Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10.

Abdul-Wahab A, Takeichi T, Liu L, Stephens C, Akiyama M, McGrath JA. Abdul-Wahab A, et al. Among authors: akiyama m. Clin Exp Dermatol. 2016 Apr;41(3):290-3. doi: 10.1111/ced.12751. Epub 2015 Sep 4. Clin Exp Dermatol. 2016. PMID: 26338057

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