Jonkman MF - Search Results

1

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X).

Niessen RC, Jonkman MF, Muis N, Hordijk R, van Essen AJ. Niessen RC, et al. Among authors: jonkman mf. Am J Med Genet A. 2005 Sep 1;137A(3):313-22. doi: 10.1002/ajmg.a.30876. Am J Med Genet A. 2005. PMID: 16092121 Review.

2

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.

van den Akker PC, Mellerio JE, Martinez AE, Liu L, Meijer R, Dopping-Hepenstal PJ, van Essen AJ, Scheffer H, Hofstra RM, McGrath JA, Jonkman MF. van den Akker PC, et al. Among authors: jonkman mf. J Med Genet. 2011 Mar;48(3):160-7. doi: 10.1136/jmg.2010.082230. Epub 2010 Nov 26. J Med Genet. 2011. PMID: 21113014

3

Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders.

Jonkman MF, Castellanos Nuijts M, van Essen AJ. Jonkman MF, et al. Clin Exp Dermatol. 2003 Nov;28(6):625-31. doi: 10.1046/j.1365-2230.2003.01400.x. Clin Exp Dermatol. 2003. PMID: 14616831 Review.

4

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: jonkman mf. 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

5

The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

van den Akker PC, Jonkman MF, Rengaw T, Bruckner-Tuderman L, Has C, Bauer JW, Klausegger A, Zambruno G, Castiglia D, Mellerio JE, McGrath JA, van Essen AJ, Hofstra RM, Swertz MA. van den Akker PC, et al. Among authors: jonkman mf. Hum Mutat. 2011 Oct;32(10):1100-7. doi: 10.1002/humu.21551. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21681854

6

Revertant mosaicism in human genetic disorders.

Jonkman MF. Jonkman MF. Am J Med Genet. 1999 Aug 6;85(4):361-4. doi: 10.1002/(sici)1096-8628(19990806)85:4<361::aid-ajmg11>3.0.co;2-e. Am J Med Genet. 1999. PMID: 10398261 Review.

7

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.

8

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.

9

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.

Jonkman MF, Scheffer H, Stulp R, Pas HH, Nijenhuis M, Heeres K, Owaribe K, Pulkkinen L, Uitto J. Jonkman MF, et al. Cell. 1997 Feb 21;88(4):543-51. doi: 10.1016/s0092-8674(00)81894-2. Cell. 1997. PMID: 9038345 Free article.

10

Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.

Moog U, de Die-Smulders CE, Scheffer H, van der Vlies P, Henquet CJ, Jonkman MF. Moog U, et al. Among authors: jonkman mf. Am J Med Genet. 1999 Oct 8;86(4):376-9. doi: 10.1002/(sici)1096-8628(19991008)86:4<376::aid-ajmg12>3.0.co;2-w. Am J Med Genet. 1999. PMID: 10494094

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