Disease: Epidermolysis bullosa- generalized atrophic benign
- (New) antenatal ultrasound signs of fetal junctional epidermolysis bullosa: A case report and systematic review of literature
- "Quality of Life in Epidermolysis Bullosa" and "Epidermolysis Bullosa Burden of Disease": Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires
- 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa
- 180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype
- A case of junctional epidermolysis bullosa intermediate with collagen XVII deficiency treated with dupilumab
- A case of Neonatal generalized atrophic benign epidermolysis bullosa due to variants of COL17A1 gene
- A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele
- A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel
- A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa
- A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa
- A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa
- Acquired, surface giant nevus cell nevi in generalized, atrophic, benign epidermolysis bullosa
- Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa
- Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa
- American Academy of Dermatology 1997 Awards for Young Investigators in Dermatology. Mutational analysis of the bullous pemphigoid antigen 2/type XVII collagen gene in patients with generalized atrophic benign epidermolysis bullosa
- Autoantibodies to BP180 associated with bullous pemphigoid release interleukin-6 and interleukin-8 from cultured human keratinocytes
- Autoimmune and inherited subepidermal blistering diseases: advances in the clinic and the laboratory
- Birch Bark Extract: A Review in Epidermolysis Bullosa
- BP180/type XVII collagen: its role in acquired and inherited disorders or the dermal-epidermal junction
- Breast cancer in a patient with Kindlers syndrome
- Bullous pemphigoid and linear IgA dermatosis sera recognize a similar 120-kDa keratinocyte collagenous glycoprotein with antigenic cross-reactivity to BP180
- Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
- Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa
- Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa
- Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa
- Comprehensive analysis of gene expression profiles in keratinocytes from patients with generalized atrophic benign epidermolysis bullosa
- Cutaneous squamous cell carcinomas in EBDR: how can they be detected?
- Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa
- Descriptive Study of the Clinical and Molecular Features of Epidermolysis Bullosa Patients in a Romanian European Reference Network-Skin Affiliated Reference Center
- Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases
- 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
- Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum
- E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa
- Efficacy of systemic phenytoin in the treatment of junctional epidermolysis bullosa
- Elevated expression and release of tissue-type, but not urokinase-type, plasminogen activator after binding of autoantibodies to bullous pemphigoid antigen 180 in cultured human keratinocytes
- En Route to Targeted Ribosome Editing to Replenish Skin Anchor Protein LAMB3 in Junctional Epidermolysis Bullosa
- Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies
- Epidemiological Characteristics of Inherited Epidermolysis Bullosa in an Eastern European Population
- Epidermolysis Bullosa
- Epidermolysis bullosa: a series of 12 patients in kashmir valley
- Epidermolysis Bullosa: Practical Clinical Tips From the Field
- Exploring the Impact of Epidermolysis Bullosa on Parents and Caregivers: A Cross-Cultural Validation of the Epidermolysis Bullosa Burden of Disease Questionnaire
- Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice
- Generalized atrophic benign epidermolysis bullosa
- Generalized atrophic benign epidermolysis bullosa
- Generalized atrophic benign epidermolysis bullosa in 2 siblings complicated by multiple squamous cell carcinomas
- Generalized atrophic benign epidermolysis bullosa--poor prognosis associated with chronic renal failure
- Generalized atrophic benign epidermolysis bullosa: a case of severe hemidesmosomal deficiency
- Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency
- Generalized atrophic benign form of junctional epidermolysis bullosa
- Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity
- Gross motor development in children with epidermolysis bullosa
- Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes
- Hereditary epidermolysis bullosa: clinical-epidemiological profile of 278 patients at a tertiary hospital in Sao Paulo, Brazil
- Heterozygous <em>COL17A1</em> variants are a frequent cause of amelogenesis imperfecta
- IL-6 levels dominate the serum cytokine signature of severe epidermolysis bullosa: A prospective cohort study
- Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa
- Independent <em>COL17A1</em> Variants in Cats with Junctional Epidermolysis Bullosa
- Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa
- Integrin alpha3 mutation junctional epidermolysis bullosa presenting with hypotrichosis and lacrimal obstruction
- Integrin α3 mutation junctional epidermolysis bullosa presenting with hypotrichosis and lacrimal obstruction
- Junctional epidermolysis bullosa
- Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families
- Junctional Epidermolysis Bullosa Linked to Homozygous Mutation in LAMC2 Gene: A Case Report With Eosinophil-Rich Inflammatory Infiltrate
- Junctional epidermolysis bullosa non-Herlitz with urethral affection
- Junctional epidermolysis bullosa: should circumcision be allowed?
- LAD-1 is absent in a subset of junctional epidermolysis bullosa patients
- LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels
- Large melanocytic nevi in generalized atrophic benign epidermolysis bullosa (epidermolysis bullosa nevi)
- Laryngo-Onycho-Cutaneous Syndrome (LOCS)
- Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?
- Localized cicatricial pemphigoid of the Brunsting-Perry type with transition into disseminated cicatricial pemphigoid. Report of a case proved by preembedding immunogold electron microscopy
- Measuring the impact of pruritus in patients with epidermolysis bullosa: evaluation with an itch-specific instrument
- METTL14-mediated N6-methyladenosine modification of Col17a1/Itgα6/Itgβ4 governs epidermal homeostasis
- Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations
- Mosaic expression of uncein and 180-kDa bullous pemphigoid antigen in generalized atrophic benign epidermolysis bullosa
- Mosaic expression of uncein, linear IgA bullous dermatosis antigen and 180-kDa bullous pemphigoid antigen in generalized atrophic benign epidermolysis bullosa
- Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
- Mutations in the laminin 5 LAMB3 gene in generalized atrophic benign epidermolysis bullosa
- Non-fatal junctional epidermolysis bullosa (generalized, atrophic and benign)
- Non-Herlitz junctional epidermolysis bullosa without hair involvement associated with BP180 deficiency
- Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa
- Oral prosthetic rehabilitation in patients with Epidermolysis Bullosa Hereditaria: a systematic review
- Patients suffering from dystrophic epidermolysis bullosa are prone to developing autoantibodies against skin proteins: A longitudinal confirmational study
- Phenotypic differences in intermediate generalized junctional epidermolysis bullosa with homozygous LAMC2 mutation and a potential genetic modifier
- Practical Tips on Epidermolysis Bullosa for Caregivers: Part 2
- Pregnancy-associated blistering in a patient with junctional epidermolysis bullosa
- 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
- PRIMA-1(MET)/APR-246 Can Partially Rescue In Vitro Cell Adhesion of Patient-Derived Junctional Epidermolysis Bullosa Epidermal Cells
- PRIMA-1<sup>MET</sup>/APR-246 Can Partially Rescue In Vitro Cell Adhesion of Patient-Derived Junctional Epidermolysis Bullosa Epidermal Cells
- Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
- Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation
- Role of the bullous pemphigoid antigen 180 (BP180) in the assembly of hemidesmosomes and cell adhesion--reexpression of BP180 in generalized atrophic benign epidermolysis bullosa keratinocytes
- Squamous cell carcinoma in junctional and dystrophic epidermolysis bullosa
- Strategy for the Optimization of Read-Through Therapy for Junctional Epidermolysis Bullosa with COL17A1 Nonsense Mutation
- The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1
- The generalized atrophic benign form of junctional epidermolysis bullosa. Experience with four patients in the United States
- Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa
- Totally endoscopic concomitant aortic and mitral valve surgery in junctional epidermolysis bullosa: a case report
- Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation