| PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. Bolling M.C., Pas H.H., de Visser M., Aronica E., Pfendner E.G., van den Berg M.P., Diercks G.F., Suurmeijer A.J., Jonkman M.F.
J. Invest. Dermatol. 130:1178-1181(2010) · Mapped (4) |
| Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness. Weinel S., Lucky A.W., Uitto J., Pfendner E.G., Choo D.
Pediatr Dermatol 25:210-214(2008) · Mapped (2) |
| Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. Pfendner E.G., Vanakker O.M., Terry S.F., Vourthis S., McAndrew P.E., McClain M.R., Fratta S., Marais A.S., Hariri S., Coucke P.J. et al.
J. Med. Genet. 44:621-628(2007) · UniProtKB (1) · Mapped (5) |
| Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. Varki R., Sadowski S., Uitto J., Pfendner E.
J. Med. Genet. 44:181-192(2007) · Mapped (2) |
| 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 E.G., Sadowski S.G., Uitto J.
J. Invest. Dermatol. 125:239-243(2005) · Mapped (6) |
| Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. Pfendner E., Rouan F., Uitto J.
Exp. Dermatol. 14:241-249(2005) · Mapped (4) |
| Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. Pfendner E., Uitto J.
J. Invest. Dermatol. 124:111-115(2005) · Mapped (4) |
| Epidermolysis bullosa simplex in Israel: clinical and genetic features. Ciubotaru D., Bergman R., Baty D., Indelman M., Pfendner E., Petronius D., Moualem H., Kanaan M., Ben Amitai D., McLean W.H.I. et al.
Arch. Dermatol. 139:498-505(2003) · UniProtKB (2) |
| The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. Sprecher E., Chavanas S., DiGiovanna J.J., Amin S., Nielsen K., Prendiville J.S., Silverman R., Esterly N.B., Spraker M.K., Guelig E. et al.
J. Invest. Dermatol. 117:179-187(2001) · UniProtKB (1) |
| Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. Nakano A., Pulkkinen L., Murrell D., Rico J., Lucky A.W., Garzon M., Stevens C.A., Robertson S., Pfendner E., Uitto J.
Pediatr. Res. 49:618-626(2001) · UniProtKB (1) |
| Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1. Smith F.J., McKusick V.A., Nielsen K., Pfendner E., Uitto J., McLean W.H.I.
Prenat. Diagn. 19:941-946(1999) · UniProtKB (1) |
