Gruber R - Search Results

1

Management of congenital ichthyoses: European guidelines of care, part two.

Mazereeuw-Hautier J, Hernández-Martín A, O'Toole EA, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Bourrat E, Diociaiuti A, Dolenc-Voljč M, Dreyfus I, El Hachem M, Fischer J, Ganemo A, Gouveia C, Gruber R, Hadj-Rabia S, Hohl D, Jonca N, Ezzedine K, Maier D, Malhotra R, Rodriguez M, Ott H, Paige DG, Pietrzak A, Poot F, Schmuth M, Sitek JC, Steijlen P, Wehr G, Moreen M, Vahlquist A, Traupe H, Oji V. Mazereeuw-Hautier J, et al. Among authors: gruber r. Br J Dermatol. 2019 Mar;180(3):484-495. doi: 10.1111/bjd.16882. Epub 2018 Dec 3. Br J Dermatol. 2019. PMID: 29897631

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

Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup.

Oji V, Seller N, Sandilands A, Gruber R, Gerss J, Hüffmeier U, Hamm H, Emmert S, Aufenvenne K, Metze D, Luger T, Loser K, Hausser I, Traupe H, McLean WH. Oji V, et al. Among authors: gruber r. Br J Dermatol. 2009 Apr;160(4):771-81. doi: 10.1111/j.1365-2133.2008.08999.x. Epub 2009 Jan 13. Br J Dermatol. 2009. PMID: 19183181

5

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

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

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

8

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.

9

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.

10

Distinguishing ichthyoses by protein profiling.

Rice RH, Bradshaw KM, Durbin-Johnson BP, Rocke DM, Eigenheer RA, Phinney BS, Schmuth M, Gruber R. Rice RH, et al. Among authors: gruber r. PLoS One. 2013 Oct 9;8(10):e75355. doi: 10.1371/journal.pone.0075355. eCollection 2013. PLoS One. 2013. PMID: 24130705 Free PMC article.

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