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Items: 1 to 20 of 104

1.

A novel mutation (p.Arg94Gly) of keratin 17 in a Chinese family with steatocystoma multiplex.

Zang D, Zhou C, He M, Ma X, Zhang J.

Eur J Dermatol. 2011 Jan-Feb;21(1):142-4. doi: 10.1684/ejd.2011.1207. No abstract available.

PMID:
21262598
2.

Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation.

Kanda M, Natsuga K, Nishie W, Akiyama M, Nagasaki A, Shimizu T, Shimizu H.

Br J Dermatol. 2009 Feb;160(2):465-8. doi: 10.1111/j.1365-2133.2008.08983.x. Epub 2008 Dec 11. No abstract available.

PMID:
19120334
3.

[Keratin 17 mutation in pachyonychia congenita type 2 in a Chinese Han family].

Zhang SD, Lin ZX, Zhang ZH, Liu JJ, Tian W, Zhao JJ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Feb;28(1):6-9. doi: 10.3760/cma.j.issn.1003-9406.2011.01.002. Chinese.

PMID:
21287500
4.

A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb.

Tsuda T, Ishikawa C, Nakagawa N, Konishi H, Tarutani M, Matsuki M, Yamanishi K.

Br J Dermatol. 2008 Sep;159(3):730-2. doi: 10.1111/j.1365-2133.2008.08684.x. Epub 2008 Jun 28. No abstract available.

PMID:
18547302
5.

A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2.

Qiang W, Kaibo W, Tienan L, Guilan Z, Yueyang L, Ting X, Fangji S.

Int J Dermatol. 2013 Jan;52(1):117-9. doi: 10.1111/j.1365-4632.2010.04667.x. No abstract available.

PMID:
23278621
6.

Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation.

Gass JK, Wilson NJ, Smith FJ, Lane EB, McLean WH, Rytina E, Salvary I, Burrows NP.

Br J Dermatol. 2009 Dec;161(6):1396-8. doi: 10.1111/j.1365-2133.2009.09383.x. Epub 2009 Jul 31. No abstract available.

PMID:
19659471
7.

Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17.

Ofaiche J, Duchatelet S, Fraitag S, Nassif A, Nougué J, Hovnanian A.

Br J Dermatol. 2014 Dec;171(6):1565-7. doi: 10.1111/bjd.13123. Epub 2014 Nov 2. No abstract available.

PMID:
24842198
8.

Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2.

Oh Adib C, Jones B, Liao H, Smith FJ, Solomon R, Egan CA, Leachman S.

Arch Dermatol Res. 2008 Jun;300(5):211-4. doi: 10.1007/s00403-008-0840-7. Epub 2008 Mar 18. No abstract available.

PMID:
18347808
9.

Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1.

Lv YM, Yang S, Zhang Z, Cui Y, Quan C, Zhou FS, Fang QY, Du WH, Zhang FR, Chang JM, Tao XP, Zhang AL, Kang RH, Du WD, Zhang XJ.

Br J Dermatol. 2009 Jun;160(6):1327-9. doi: 10.1111/j.1365-2133.2009.09062.x. Epub 2009 Mar 11. No abstract available.

PMID:
19416275
10.

Do you know this syndrome? Pachyonychia congenita.

Duarte GV, Cunha R.

An Bras Dermatol. 2011 Nov-Dec;86(6):1222-7. English, Portuguese.

11.

Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view.

Cogulu O, Onay H, Aykut A, Wilson NJ, Smith FJ, Dereli T, Ozkinay F.

Eur J Pediatr. 2009 Oct;168(10):1269-72. doi: 10.1007/s00431-008-0908-6. Epub 2008 Dec 24.

PMID:
19107515
12.

Steatocystoma multiplex, a rare distribution of a rare disease.

Cuperus E, Leguit RJ, Sigurdsson V.

Eur J Dermatol. 2010 May-Jun;20(3):402-3. doi: 10.1684/ejd.2010.0915. Epub 2010 Mar 19. No abstract available.

PMID:
20299306
13.

[Two mutations of the KRT6A gene in Chinese patients with pachyonychia congenita type I].

Bai ZL, Feng YG, Tan SS, Kang RH, Wang XY, He DL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):514-7. doi: 10.3760/cma.j.issn.1003-9406.2009.05.007. Chinese.

PMID:
19806570
14.

Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families.

Bai ZL, Feng YG, Tan SS, Wang XY, Xiao SX, Wang H, Jia HQ, Wu JW, He DL, Kang RH.

Br J Dermatol. 2008 Jul;159(1):238-40. doi: 10.1111/j.1365-2133.2008.08603.x. Epub 2008 Jul 1. No abstract available.

PMID:
18489596
15.

Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.

Wilson NJ, Pérez ML, Vahlquist A, Schwartz ME, Hansen CD, McLean WH, Smith FJ.

J Invest Dermatol. 2012 Jul;132(7):1921-4. doi: 10.1038/jid.2011.484. Epub 2012 Feb 16. No abstract available.

16.

Pachyonychia congenita type 2: abnormal dentition extending into adulthood.

Zamiri M, McLean WH, Hodgins MB, Munro CS.

Br J Dermatol. 2008 Aug;159(2):500-1. doi: 10.1111/j.1365-2133.2008.08662.x. Epub 2008 Jun 28. No abstract available.

PMID:
18547314
17.

Steatocystoma multiplex: keratin 17 - the key player?

Antal AS, Kulichova D, Redler S, Betz RC, Ruzicka T.

Br J Dermatol. 2012 Dec;167(6):1395-7. doi: 10.1111/j.1365-2133.2012.11073.x. No abstract available.

PMID:
22639854
18.

A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1.

Zhou HL, Yang S, Gao M, Zhao XY, Zhu YG, Li W, Ren YQ, Liang YH, Du WH, Zhang XJ.

J Eur Acad Dermatol Venereol. 2007 Mar;21(3):351-5.

PMID:
17309457
19.

Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2.

Ichimiya M, Yamaguchi M, Nemoto K, Muto M.

J Dermatol. 2013 Sep;40(9):757-8. doi: 10.1111/1346-8138.12212. Epub 2013 Jul 16. No abstract available.

PMID:
23855588
20.

Double trouble: homozygous dominant mutations and hair loss in pachyonychia congenita.

Irvine AD.

J Invest Dermatol. 2012 Jul;132(7):1757-9. doi: 10.1038/jid.2012.121.

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