Nijenhuis M - Search Results

1

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.

Gostyńska KB, Nijenhuis M, Lemmink H, Pas HH, Pasmooij AM, Lang KK, Castañón MJ, Wiche G, Jonkman MF. Gostyńska KB, et al. Among authors: nijenhuis m. Hum Mol Genet. 2015 Jun 1;24(11):3155-62. doi: 10.1093/hmg/ddv066. Epub 2015 Feb 24. Hum Mol Genet. 2015. PMID: 25712130

2

Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex.

Schuilenga-Hut PH, Scheffer H, Pas HH, Nijenhuis M, Buys CH, Jonkman MF. Schuilenga-Hut PH, et al. Among authors: nijenhuis m. J Invest Dermatol. 2002 Apr;118(4):626-30. doi: 10.1046/j.1523-1747.2002.01715.x. J Invest Dermatol. 2002. PMID: 11918708 Free article.

3

Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

Jonkman MF, Pas HH, Nijenhuis M, Kloosterhuis G, Steege G. Jonkman MF, et al. Among authors: nijenhuis m. J Invest Dermatol. 2002 Dec;119(6):1275-81. doi: 10.1046/j.1523-1747.2002.19609.x. J Invest Dermatol. 2002. PMID: 12485428 Free article.

4

Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.

Pasmooij AM, Pas HH, Deviaene FC, Nijenhuis M, Jonkman MF. Pasmooij AM, et al. Among authors: nijenhuis m. Am J Hum Genet. 2005 Nov;77(5):727-40. doi: 10.1086/497344. Epub 2005 Sep 9. Am J Hum Genet. 2005. PMID: 16252234 Free PMC article.

5

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.

van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF. van den Akker PC, et al. Among authors: nijenhuis m. J Dermatol Sci. 2009 Oct;56(1):9-18. doi: 10.1016/j.jdermsci.2009.06.015. Epub 2009 Aug 8. J Dermatol Sci. 2009. PMID: 19665875

6

Natural gene therapy in dystrophic epidermolysis bullosa.

van den Akker PC, Nijenhuis M, Meijer G, Hofstra RM, Jonkman MF, Pasmooij AM. van den Akker PC, et al. Among authors: nijenhuis m. Arch Dermatol. 2012 Feb;148(2):213-6. doi: 10.1001/archdermatol.2011.298. Epub 2011 Oct 17. Arch Dermatol. 2012. PMID: 22004882

7

Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations.

Pasmooij AM, Nijenhuis M, Brander R, Jonkman MF. Pasmooij AM, et al. Among authors: nijenhuis m. J Invest Dermatol. 2012 May;132(5):1374-83. doi: 10.1038/jid.2011.477. Epub 2012 Feb 9. J Invest Dermatol. 2012. PMID: 22318390 Free article.

8

A PLEC Isoform Identified in Skin, Muscle, and Heart.

Gostyńska KB, Lemmink H, Bremer J, Pas HH, Nijenhuis M, van den Akker PC, Sinke RJ, Jonkman MF, Pasmooij AMG. Gostyńska KB, et al. Among authors: nijenhuis m. J Invest Dermatol. 2017 Feb;137(2):518-522. doi: 10.1016/j.jid.2016.09.032. Epub 2016 Oct 18. J Invest Dermatol. 2017. PMID: 27769846 Free article. No abstract available.

9

Two major 5'-untranslated regions for type XVII collagen mRNA.

van Zalen S, Nijenhuis M, Jonkman MF, Pas HH. van Zalen S, et al. Among authors: nijenhuis m. J Dermatol Sci. 2006 Jul;43(1):11-9. doi: 10.1016/j.jdermsci.2006.02.008. Epub 2006 Mar 31. J Dermatol Sci. 2006. PMID: 16580182

10

Particle Bombardment of Ex Vivo Skin to Deliver DNA and Express Proteins.

Sokol E, Nijenhuis M, Sjollema KA, Jonkman MF, Pas HH, Giepmans BNG. Sokol E, et al. Among authors: nijenhuis m. Methods Mol Biol. 2017;1559:107-118. doi: 10.1007/978-1-4939-6786-5_9. Methods Mol Biol. 2017. PMID: 28063041

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