Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1993 3
2003 1
2005 1
2006 1
2007 2
2008 3
2009 1
2010 1
2015 1
2018 2
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

13 results

Results by year

Filters applied: . Clear all
Page 1
Junctional Epidermolysis Bullosa.
Pfendner EG, Lucky AW. Pfendner EG, et al. 2008 Feb 22 [updated 2018 Dec 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Feb 22 [updated 2018 Dec 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301304 Free Books & Documents. Review.
Dystrophic Epidermolysis Bullosa.
Pfendner EG, Lucky AW. Pfendner EG, et al. 2006 Aug 21 [updated 2018 Sep 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Aug 21 [updated 2018 Sep 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301481 Free Books & Documents. Review.
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
Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy.
Ellis C, Eason C, Snyder A, Siegel M, Pai GS, Ryan E, Pfendner EG, Lee LW. Ellis C, et al. Among authors: pfendner eg. JAAD Case Rep. 2021 Mar 20;11:63-68. doi: 10.1016/j.jdcr.2021.03.016. eCollection 2021 May. JAAD Case Rep. 2021. PMID: 33937469 Free PMC article. No abstract available.
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.
13 results