G. Pohla-Gubo

发表

Telepathology using immunofluorescence/immunoperoxidase microscopy

J. Bauer, W. Salmhofer, R. Hametner, 2004, Journal of telemedicine and telecare.

A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.

J. Uitto, A. Klausegger, B. Kofler, 2001, The American journal of pathology.

A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Köbner

J. Uitto, A. Klausegger, J. Bauer, 2003, Clinical and experimental dermatology.

Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa.

J. Uitto, J. McGrath, A. Christiano, 1997, The Journal of investigative dermatology.

Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa

K. Yancey, A. Grassegger, G. Pohla-Gubo, 1995, Experimental dermatology.

Diagnostic Pitfalls in Newborns and Babies with Blisters and Erosions

A. Diem, A. Klausegger, J. Bauer, 2010, Dermatology research and practice.

Ocular involvement in IgA–epidermolysis bullosa acquisita

D. Metze, G. Grabner, J. Ruckhofer, 1999, The British journal of dermatology.

Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay

A. Klausegger, M. Laimer, J. Bauer, 2004, Laboratory Investigation.

Histopathology of Human Corneas After Amniotic Membrane and Limbal Stem Cell Transplantation for Severe Chemical Burn

G. Grabner, J. Ruckhofer, J. Stoiber, 2002, Cornea.

A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa.

J. Uitto, J. McGrath, A. Christiano, 1996, The Journal of investigative dermatology.

Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.

A. Klausegger, M. Laimer, J. Bauer, 2006, Archives of dermatology.

Epidermolysis bullosa hereditaria

A. Diem, A. Klausegger, M. Laimer, 2008, Monatsschrift Kinderheilkunde Zeitschrift für Kinder- und Jugendmedizin.

Treatment‐resistant classical epidermolysis bullosa acquisita responding to rituximab

M. Laimer, J. Bauer, R. Hametner, 2007, The British journal of dermatology.

Pathogenic mechanisms in epidermolysis bullosa naevi.

A. Klausegger, J. Bauer, R. Hametner, 2003, Acta dermato-venereologica.

Gene symbol: Kind1. Disease: kindler syndrome.

A. Klausegger, J. Bauer, W. Muss, 2004, Human genetics.

Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder

A. Klausegger, J. Bauer, W. Muss, 2003, Journal of cutaneous pathology.

Skin grafting as a therapeutic approach in pretibially restricted junctional epidermolysis bullosa

A. Klausegger, M. Laimer, J. Bauer, 2006, The British journal of dermatology.

Gene symbol: KRT14. Disease: epidermolysis bullosa simplex, Koebner.

J. Uitto, A. Klausegger, J. Bauer, 2004, Human genetics.

Ocular Involvement in Anti-Epiligrin Cicatricial Pemphigoid

J. Ruckhofer, J. Stoiber, G. Pohla-Gubo, 2006, European journal of ophthalmology.