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Results: 1 to 20 of 358

Similar articles for PubMed (Select 18347808)

1.

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
2.

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
3.

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
4.

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
5.

Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma.

Bowden PE.

J Invest Dermatol. 2010 Feb;130(2):336-8. doi: 10.1038/jid.2009.395.

6.

[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
7.

A novel frameshift mutation in keratin 16 underlies pachyonychia congenita with focal palmoplantar keratoderma.

Cao LH, Luo Y, Wen W, Liu WL, Jiang L, Chen C, Ji CY, Zhang X.

Br J Dermatol. 2011 Nov;165(5):1145-7. doi: 10.1111/j.1365-2133.2011.10450.x. No abstract available.

PMID:
21668426
8.

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
9.

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
11.

Pachyonychia congenita: a case report.

Kohli N.

Cutis. 2009 Nov;84(5):269-71.

PMID:
20099620
12.

A large mutational study in pachyonychia congenita.

Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ.

J Invest Dermatol. 2011 May;131(5):1018-24. doi: 10.1038/jid.2011.20. Epub 2011 Feb 17.

13.

A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.

Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD.

J Am Acad Dermatol. 2012 Oct;67(4):680-6. doi: 10.1016/j.jaad.2011.12.009. Epub 2012 Jan 20.

PMID:
22264670
14.

Do you know this syndrome? Pachyonychia congenita.

Duarte GV, Cunha R.

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

15.

Pachyonychia congenita associated with median rhomboid glossitis.

Karen JK, Schaffer JV.

Dermatol Online J. 2007 Jan 27;13(1):21.

16.

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
17.

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
18.

Pachyonychia congenita in pediatric patients: natural history, features, and impact.

Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS.

JAMA Dermatol. 2014 Feb;150(2):146-53. doi: 10.1001/jamadermatol.2013.6448.

PMID:
24132595
19.

Pachyonychia congenita complicated by hidradenitis suppurativa: a family study.

Todd P, Garioch J, Rademaker M, Susskind W, Gemell C, Thomson J.

Br J Dermatol. 1990 Nov;123(5):663-6.

PMID:
2248894
20.

Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita.

Wilson NJ, Hansen CD, Azkur D, Kocabas CN, Metin A, Coskun Z, Schwartz ME, Hull PR, McLean WH, Smith FJ.

J Dermatol Sci. 2013 Apr;70(1):58-60. doi: 10.1016/j.jdermsci.2012.12.005. Epub 2013 Jan 11. No abstract available.

PMID:
23374899
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