Jonkman MF - Search Results

1

Novel TGM5 mutations in acral peeling skin syndrome.

van der Velden JJ, van Geel M, Nellen RG, Jonkman MF, McGrath JA, Nanda A, Sprecher E, van Steensel MA, McLean WH, Cassidy AJ. van der Velden JJ, et al. Among authors: jonkman mf. Exp Dermatol. 2015 Apr;24(4):285-9. doi: 10.1111/exd.12650. Exp Dermatol. 2015. PMID: 25644735

2

Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.

Nellen RG, Nagtzaam IF, Hoogeboom AJ, Bladergroen RS, Jonkman MF, Steijlen PM, van Steensel MA, van Geel M. Nellen RG, et al. Among authors: jonkman mf. Exp Dermatol. 2015 Nov;24(11):883-5. doi: 10.1111/exd.12786. Epub 2015 Aug 21. Exp Dermatol. 2015. PMID: 26120802 No abstract available.

3

Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.

van der Velden JJAJ, van Geel M, Engelhart JJ, Jonkman MF, Steijlen PM. van der Velden JJAJ, et al. Among authors: jonkman mf. J Dermatol. 2020 Jan;47(1):3-7. doi: 10.1111/1346-8138.15136. Epub 2019 Oct 29. J Dermatol. 2020. PMID: 31663161 Free PMC article.

4

Clouston syndrome can mimic pachyonychia congenita.

van Steensel MA, Jonkman MF, van Geel M, Steijlen PM, McLean WH, Smith FJ. van Steensel MA, et al. Among authors: jonkman mf. J Invest Dermatol. 2003 Nov;121(5):1035-8. doi: 10.1046/j.1523-1747.2003.12527.x. J Invest Dermatol. 2003. PMID: 14708603 Free article.

5

Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?

Badeloe S, van Spaendonck-Zwarts KY, van Steensel MA, van Marion AM, van Essen AJ, Jonkman MF, Steijlen PM, Poblete-Gutiérrez P, van Geel M, Frank J. Badeloe S, et al. Among authors: jonkman mf. Br J Dermatol. 2009 Mar;160(3):707-9. doi: 10.1111/j.1365-2133.2008.09000.x. Epub 2009 Jan 10. Br J Dermatol. 2009. PMID: 19183174 No abstract available.

6

A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis.

Bolling MC, Bladergroen RS, van Steensel MA, Willemsen M, Jonkman MF, van Geel M. Bolling MC, et al. Among authors: jonkman mf. Br J Dermatol. 2010 Apr;162(4):875-9. doi: 10.1111/j.1365-2133.2009.09617.x. Br J Dermatol. 2010. PMID: 20500210

7

Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity.

Chang YY, van der Velden J, van der Wier G, Kramer D, Diercks GF, van Geel M, Coenraads PJ, Zeeuwen PL, Jonkman MF. Chang YY, et al. Among authors: jonkman mf. Br J Dermatol. 2012 Nov;167(5):1076-84. doi: 10.1111/j.1365-2133.2012.11175.x. Epub 2012 Oct 5. Br J Dermatol. 2012. PMID: 23039091

8

Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex.

Jonkman MF, Heeres K, Pas HH, van Luyn MJ, Elema JD, Corden LD, Smith FJ, McLean WH, Ramaekers FC, Burton M, Scheffer H. Jonkman MF, et al. J Invest Dermatol. 1996 Nov;107(5):764-9. doi: 10.1111/1523-1747.ep12365805. J Invest Dermatol. 1996. PMID: 8875963 Free article.

9

Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, Uitto J, McLean WH. Covello SP, et al. Among authors: jonkman mf. Br J Dermatol. 1998 Sep;139(3):475-80. doi: 10.1046/j.1365-2133.1998.02413.x. Br J Dermatol. 1998. PMID: 9767294

10

A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.

van der Velden JJ, Jonkman MF, McLean WH, Hamm H, Steijlen PM, van Steensel MA, van Geel M. van der Velden JJ, et al. Among authors: jonkman mf. J Dermatol Sci. 2012 Jan;65(1):74-6. doi: 10.1016/j.jdermsci.2011.10.002. Epub 2011 Oct 13. J Dermatol Sci. 2012. PMID: 22036214 No abstract available.

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