Pfendner E - Search Results

1

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.

Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J. Li Q, et al. Among authors: pfendner e. Exp Dermatol. 2009 Jan;18(1):1-11. doi: 10.1111/j.1600-0625.2008.00795.x. Epub 2008 Oct 22. Exp Dermatol. 2009. PMID: 19054062 Free PMC article. Review.

2

Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.

Pfendner E, Rouan F, Uitto J. Pfendner E, et al. Exp Dermatol. 2005 Apr;14(4):241-9. doi: 10.1111/j.0906-6705.2005.00324.x. Exp Dermatol. 2005. PMID: 15810881 Review.

3

Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.

Pfendner EG, Sadowski SG, Uitto J. Pfendner EG, et al. J Invest Dermatol. 2005 Aug;125(2):239-43. doi: 10.1111/j.0022-202X.2005.23818.x. J Invest Dermatol. 2005. PMID: 16098032 Free article.

4

Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.

Pfendner E, Uitto J. Pfendner E, et al. J Invest Dermatol. 2005 Jan;124(1):111-5. doi: 10.1111/j.0022-202X.2004.23564.x. J Invest Dermatol. 2005. PMID: 15654962 Free article.

5

Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency.

Nakano A, Pfendner E, Hashimoto I, Uitto J. Nakano A, et al. Among authors: pfendner e. J Invest Dermatol. 2000 Sep;115(3):493-8. doi: 10.1046/j.1523-1747.2000.00086.x. J Invest Dermatol. 2000. PMID: 11023379 Free article.

6

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

Varki R, Sadowski S, Pfendner E, Uitto J. Varki R, et al. Among authors: pfendner e. J Med Genet. 2006 Aug;43(8):641-52. doi: 10.1136/jmg.2005.039685. Epub 2006 Feb 10. J Med Genet. 2006. PMID: 16473856 Free PMC article.

7

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Pfendner EG, et al. J Med Genet. 2007 Oct;44(10):621-8. doi: 10.1136/jmg.2007.051094. Epub 2007 Jul 6. J Med Genet. 2007. PMID: 17617515 Free PMC article.

8

Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.

Weinel S, Lucky AW, Uitto J, Pfendner EG, Choo D. Weinel S, et al. Among authors: pfendner eg. Pediatr Dermatol. 2008 Mar-Apr;25(2):210-4. doi: 10.1111/j.1525-1470.2008.00636.x. Pediatr Dermatol. 2008. PMID: 18429782

9

Pseudoxanthoma elasticum: genetic diagnostic markers.

Pfendner EG, Uitto J, Gerard GF, Terry SF. Pfendner EG, et al. Expert Opin Med Diagn. 2008 Jan;2(1):63-79. doi: 10.1517/17530059.2.1.63. Expert Opin Med Diagn. 2008. PMID: 23485117

10

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.

Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, Uitto J. Nakano A, et al. Among authors: pfendner e. Hum Genet. 2002 Jan;110(1):41-51. doi: 10.1007/s00439-001-0630-1. Epub 2001 Nov 13. Hum Genet. 2002. PMID: 11810295

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