Takeichi T - Search Results

1

Next generation diagnostics of heritable connective tissue disorders.

Salam A, Simpson MA, Stone KL, Takeichi T, Nanda A, Akiyama M, McGrath JA. Salam A, et al. Among authors: takeichi t. Matrix Biol. 2014 Jan;33:35-40. doi: 10.1016/j.matbio.2013.06.004. Epub 2013 Jul 26. Matrix Biol. 2014. PMID: 23896220 Free article. Review.

2

Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.

Tanahashi K, Sugiura K, Takeichi T, Takama H, Shinkuma S, Shimizu H, Akiyama M. Tanahashi K, et al. Among authors: takeichi t. J Eur Acad Dermatol Venereol. 2013 Sep;27(9):1182-4. doi: 10.1111/j.1468-3083.2012.04526.x. Epub 2012 Mar 26. J Eur Acad Dermatol Venereol. 2013. PMID: 22449147

3

Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis.

Takeichi T, Sugiura K, Matsuda K, Kono M, Akiyama M. Takeichi T, et al. J Dermatol Sci. 2013 Mar;69(3):259-61. doi: 10.1016/j.jdermsci.2012.11.004. Epub 2012 Nov 14. J Dermatol Sci. 2013. PMID: 23200509 No abstract available.

4

Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome.

Takeichi T, Sugiura K, Arai H, Ishii K, Kono M, Akiyama M. Takeichi T, et al. Acta Derm Venereol. 2013 Sep 4;93(5):579-80. doi: 10.2340/00015555-1526. Acta Derm Venereol. 2013. PMID: 23450279 Free article. No abstract available.

5

The novel CTSC homozygous nonsense mutation p.Lys106X in a patient with Papillon-Lefèvre syndrome with all permanent teeth remaining at over 40 years of age.

Kobayashi T, Sugiura K, Takeichi T, Akiyama M. Kobayashi T, et al. Among authors: takeichi t. Br J Dermatol. 2013 Oct;169(4):948-50. doi: 10.1111/bjd.12429. Br J Dermatol. 2013. PMID: 23662908 No abstract available.

6

Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.

Sugiura K, Takeichi T, Tanahashi K, Ito Y, Kosho T, Saida K, Uhara H, Okuyama R, Akiyama M. Sugiura K, et al. Among authors: takeichi t. J Dermatol Sci. 2013 Nov;72(2):193-5. doi: 10.1016/j.jdermsci.2013.06.008. Epub 2013 Jun 28. J Dermatol Sci. 2013. PMID: 23871423 No abstract available.

7

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.

Takeichi T, Nanda A, Liu L, Salam A, Campbell P, Fong K, Akiyama M, Ozoemena L, Stone KL, Al-Ajmi H, Simpson MA, McGrath JA. Takeichi T, et al. Exp Dermatol. 2013 Dec;22(12):825-31. doi: 10.1111/exd.12276. Exp Dermatol. 2013. PMID: 24279917

8

Alopecia totalis in monosomy 18p.

Sugiura K, Takeichi T, Akiyama M. Sugiura K, et al. Among authors: takeichi t. Eur J Dermatol. 2013 Nov-Dec;23(6):899-900. doi: 10.1684/ejd.2013.2211. Eur J Dermatol. 2013. PMID: 24413381 No abstract available.

9

Nuclear envelope localization of Ran-binding protein 2 and Ran-GTPase-activating protein 1 in psoriatic epidermal keratinocytes.

Yasuda K, Sugiura K, Takeichi T, Ogawa Y, Muro Y, Akiyama M. Yasuda K, et al. Among authors: takeichi t. Exp Dermatol. 2014 Feb;23(2):119-24. doi: 10.1111/exd.12324. Exp Dermatol. 2014. PMID: 24438026

10

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.

Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone KL, Harper JI, Irwin McLean WH, Simpson MA, Parsons M, McGrath JA. Campbell P, et al. Among authors: takeichi t. J Invest Dermatol. 2014 Oct;134(10):2570-2578. doi: 10.1038/jid.2014.164. Epub 2014 Apr 1. J Invest Dermatol. 2014. PMID: 24691054 Free PMC article.

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