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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: van essen aj. 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
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: van essen aj. 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
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: van essen aj. Hum Mutat. 2011 Oct;32(10):1100-7. doi: 10.1002/humu.21551. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21681854
A Hirschsprung disease locus at 22q11?
Kerstjens-Frederikse WS, Hofstra RM, van Essen AJ, Meijers JH, Buys CH. Kerstjens-Frederikse WS, et al. Among authors: van essen aj. J Med Genet. 1999 Mar;36(3):221-4. J Med Genet. 1999. PMID: 10204849 Free PMC article.
Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.
Verheij JB, Bouman K, van Lingen RA, van Lookeren Campagne JG, Leegte B, van der Veen AY, Hofstra RM, Buys CH, van Essen AJ. Verheij JB, et al. Among authors: van essen aj, van der veen ay, van lingen ra, van lookeren campagne jg. Am J Med Genet. 1999 Sep 10;86(2):168-73. doi: 10.1002/(sici)1096-8628(19990910)86:2<168::aid-ajmg16>3.0.co;2-q. Am J Med Genet. 1999. PMID: 10449655 Review.
107 results