Gruber R - Search Results

1

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.

Moosbrugger-Martinz V, Jalili A, Schossig AS, Jahn-Bassler K, Zschocke J, Schmuth M, Stingl G, Eckl KM, Hennies HC, Gruber R. Moosbrugger-Martinz V, et al. Among authors: gruber r. Br J Dermatol. 2015 Jun;172(6):1628-1632. doi: 10.1111/bjd.13545. Epub 2015 Mar 18. Br J Dermatol. 2015. PMID: 25400170

2

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.

Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M. Gruber R, et al. Eur J Hum Genet. 2007 Feb;15(2):179-84. doi: 10.1038/sj.ejhg.5201742. Epub 2006 Dec 13. Eur J Hum Genet. 2007. PMID: 17164798

3

Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders.

Schmuth M, Gruber R, Elias PM, Williams ML. Schmuth M, et al. Among authors: gruber r. Adv Dermatol. 2007;23:231-56. doi: 10.1016/j.yadr.2007.07.011. Adv Dermatol. 2007. PMID: 18159904 Free PMC article. Review.

4

Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations.

Gruber R, Wilson NJ, Smith FJ, Grabher D, Steinwender L, Fritsch PO, Schmuth M. Gruber R, et al. Br J Dermatol. 2009 Dec;161(6):1391-5. doi: 10.1111/j.1365-2133.2009.09471.x. Epub 2009 Sep 28. Br J Dermatol. 2009. PMID: 19785597

5

Epidermal barrier dysfunction in non-atopic HIV: evidence for an "inside-to-outside" pathogenesis.

Gunathilake R, Schmuth M, Scharschmidt TC, Gruber R, Grabher D, Leslie KS, Maurer TA, Mauro TM, Elias PM. Gunathilake R, et al. Among authors: gruber r. J Invest Dermatol. 2010 Apr;130(4):1185-8. doi: 10.1038/jid.2009.367. Epub 2009 Nov 19. J Invest Dermatol. 2010. PMID: 19924137 Free PMC article. No abstract available.

6

Lower prevalence of common filaggrin mutations in a community sample of atopic eczema: is disease severity important?

Gruber R, Janecke AR, Grabher D, Horak E, Schmuth M, Lercher P. Gruber R, et al. Wien Klin Wochenschr. 2010 Oct;122(19-20):551-7. doi: 10.1007/s00508-010-1449-3. Epub 2010 Sep 27. Wien Klin Wochenschr. 2010. PMID: 20865458

7

Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.

Gruber R, Elias PM, Crumrine D, Lin TK, Brandner JM, Hachem JP, Presland RB, Fleckman P, Janecke AR, Sandilands A, McLean WH, Fritsch PO, Mildner M, Tschachler E, Schmuth M. Gruber R, et al. Am J Pathol. 2011 May;178(5):2252-63. doi: 10.1016/j.ajpath.2011.01.053. Am J Pathol. 2011. PMID: 21514438 Free PMC article.

8

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. Gruber R, et al. J Am Acad Dermatol. 2012 Jun;66(6):e193-9. doi: 10.1016/j.jaad.2011.02.003. Epub 2011 May 24. J Am Acad Dermatol. 2012. PMID: 21601946

9

A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype.

Gruber R, Hennies HC, Romani N, Schmuth M. Gruber R, et al. Arch Dermatol. 2011 Jun;147(6):748-50. doi: 10.1001/archdermatol.2011.138. Arch Dermatol. 2011. PMID: 21690549 No abstract available.

10

Inherited ichthyoses/generalized Mendelian disorders of cornification.

Schmuth M, Martinz V, Janecke AR, Fauth C, Schossig A, Zschocke J, Gruber R. Schmuth M, et al. Among authors: gruber r. Eur J Hum Genet. 2013 Feb;21(2):123-33. doi: 10.1038/ejhg.2012.121. Epub 2012 Jun 27. Eur J Hum Genet. 2013. PMID: 22739337 Free PMC article. Review.

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