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The molecular genetic analysis of the expanding pachyonychia congenita case collection.

Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, McLean WH, Sprecher E, Smith FJ.

Br J Dermatol. 2014 Aug;171(2):343-55. doi: 10.1111/bjd.12958. Epub 2014 Aug 6.


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.


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.


Best treatment practices for pachyonychia congenita.

Goldberg I, Fruchter D, Meilick A, Schwartz ME, Sprecher E.

J Eur Acad Dermatol Venereol. 2014 Mar;28(3):279-85. doi: 10.1111/jdv.12098. Epub 2013 Jan 30.


Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.

Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH.

Nat Genet. 2012 Nov;44(11):1272-6. doi: 10.1038/ng.2444. Epub 2012 Oct 14.


Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.

Lin Z, Chen Q, Lee M, Cao X, Zhang J, Ma D, Chen L, Hu X, Wang H, Wang X, Zhang P, Liu X, Guan L, Tang Y, Yang H, Tu P, Bu D, Zhu X, Wang K, Li R, Yang Y.

Am J Hum Genet. 2012 Mar 9;90(3):558-64. doi: 10.1016/j.ajhg.2012.02.006.


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.


Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.

Spaunhurst KM, Hogendorf AM, Smith FJ, Lingala B, Schwartz ME, Cywinska-Bernas A, Zeman KJ, Tang JY.

Br J Dermatol. 2012 Apr;166(4):875-8. doi: 10.1111/j.1365-2133.2011.10745.x.


An appraisal of oral retinoids in the treatment of pachyonychia congenita.

Gruber R, Edlinger M, Kaspar RL, Hansen CD, Leachman S, Milstone LM, Smith FJ, Sidoroff A, Fritsch PO, Schmuth M.

J Am Acad Dermatol. 2012 Jun;66(6):e193-9. doi: 10.1016/j.jaad.2011.02.003. Epub 2011 May 24.


Paternal germ cell mosaicism in autosomal dominant pachyonychia congenita.

Pho LN, Smith FJ, Konecki D, Bale S, McLean WH, Cohen B, Eliason MJ, Leachman SA.

Arch Dermatol. 2011 Sep;147(9):1077-80. doi: 10.1001/archdermatol.2011.124. Epub 2011 May 16.


The phenotypic and molecular genetic features of pachyonychia congenita.

McLean WH, Hansen CD, Eliason MJ, Smith FJ.

J Invest Dermatol. 2011 May;131(5):1015-7. doi: 10.1038/jid.2011.59. Epub 2011 Mar 24. Review.


Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita.

Zhao Y, Gartner U, Smith FJ, McLean WH.

J Invest Dermatol. 2011 May;131(5):1045-52. doi: 10.1038/jid.2011.41. Epub 2011 Mar 10.


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.


Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.

Fu T, Leachman SA, Wilson NJ, Smith FJ, Schwartz ME, Tang JY.

J Invest Dermatol. 2011 May;131(5):1025-8. doi: 10.1038/jid.2010.373. Epub 2010 Dec 16.


Botulinum toxin in the treatment of sweat-worsened foot problems in patients with epidermolysis bullosa simplex and pachyonychia congenita.

Swartling C, Karlqvist M, Hymnelius K, Weis J, Vahlquist A.

Br J Dermatol. 2010 Nov;163(5):1072-6. doi: 10.1111/j.1365-2133.2010.09927.x.


First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder.

Leachman SA, Hickerson RP, Schwartz ME, Bullough EE, Hutcherson SL, Boucher KM, Hansen CD, Eliason MJ, Srivatsa GS, Kornbrust DJ, Smith FJ, McLean WI, Milstone LM, Kaspar RL.

Mol Ther. 2010 Feb;18(2):442-6. doi: 10.1038/mt.2009.273. Epub 2009 Nov 24.


Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients.

Hickerson RP, Leake D, Pho LN, Leachman SA, Kaspar RL.

J Dermatol Sci. 2009 Nov;56(2):82-8. doi: 10.1016/j.jdermsci.2009.07.008. Epub 2009 Aug 21.


Keratin K6c mutations cause focal palmoplantar keratoderma.

Wilson NJ, Messenger AG, Leachman SA, O'Toole EA, Lane EB, McLean WH, Smith FJ.

J Invest Dermatol. 2010 Feb;130(2):425-9. doi: 10.1038/jid.2009.215. Epub 2009 Jul 16.


Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.

Leachman SA, Hickerson RP, Hull PR, Smith FJ, Milstone LM, Lane EB, Bale SJ, Roop DR, McLean WH, Kaspar RL.

J Dermatol Sci. 2008 Sep;51(3):151-7. doi: 10.1016/j.jdermsci.2008.04.003. Epub 2008 May 20. Review.


The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.

Szeverenyi I, Cassidy AJ, Chung CW, Lee BT, Common JE, Ogg SC, Chen H, Sim SY, Goh WL, Ng KW, Simpson JA, Chee LL, Eng GH, Li B, Lunny DP, Chuon D, Venkatesh A, Khoo KH, McLean WH, Lim YP, Lane EB.

Hum Mutat. 2008 Mar;29(3):351-60.

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