Jonkman MF - Search Results

1

Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy.

Pasmooij AM, Jonkman MF, Uitto J. Pasmooij AM, et al. Among authors: jonkman mf. Discov Med. 2012 Sep;14(76):167-79. Discov Med. 2012. PMID: 23021371 Free article. Review.

2

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: jonkman mf. 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.

3

Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.

Pasmooij AM, Pas HH, Bolling MC, Jonkman MF. Pasmooij AM, et al. Among authors: jonkman mf. J Clin Invest. 2007 May;117(5):1240-8. doi: 10.1172/JCI30465. J Clin Invest. 2007. PMID: 17476356 Free PMC article.

4

Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.

Pasmooij AM, Garcia M, Escamez MJ, Nijenhuis AM, Azon A, Cuadrado-Corrales N, Jonkman MF, Del Rio M. Pasmooij AM, et al. Among authors: jonkman mf. J Invest Dermatol. 2010 Oct;130(10):2407-11. doi: 10.1038/jid.2010.163. Epub 2010 Jun 24. J Invest Dermatol. 2010. PMID: 20574443 Free article.

5

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: jonkman mf. Arch Dermatol. 2012 Feb;148(2):213-6. doi: 10.1001/archdermatol.2011.298. Epub 2011 Oct 17. Arch Dermatol. 2012. PMID: 22004882

6

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: jonkman mf. 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.

7

Realm of revertant mosaicism expanding.

Jonkman MF, Pasmooij AM. Jonkman MF, et al. J Invest Dermatol. 2012 Mar;132(3 Pt 1):514-6. doi: 10.1038/jid.2011.445. J Invest Dermatol. 2012. PMID: 22327264 Free article.

8

First symposium on natural gene therapy of the skin.

Pasmooij AM, Jonkman MF. Pasmooij AM, et al. Among authors: jonkman mf. Exp Dermatol. 2012 Mar;21(3):236-9. doi: 10.1111/j.1600-0625.2011.01426.x. Exp Dermatol. 2012. PMID: 22379975 No abstract available.

9

Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.

Kiritsi D, He Y, Pasmooij AM, Onder M, Happle R, Jonkman MF, Bruckner-Tuderman L, Has C. Kiritsi D, et al. Among authors: jonkman mf. J Clin Invest. 2012 May;122(5):1742-6. doi: 10.1172/JCI61976. Epub 2012 Apr 2. J Clin Invest. 2012. PMID: 22466645 Free PMC article.

10

Analysis of cutaneous somatic mosaicism.

Pasmooij AM, Jonkman MF. Pasmooij AM, et al. Among authors: jonkman mf. Methods Mol Biol. 2013;961:165-77. doi: 10.1007/978-1-62703-227-8_9. Methods Mol Biol. 2013. PMID: 23325642

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