| 1 | Gene dosage effect of p.Glu170Lys mutation in the KRT 5 gene in a Polish family with epidermolysis bullosa simplex. (21144712) | OA8dak M.... Kowalewski C. | 2011 | KRT5 |
| 2 | Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. (20665883) | Natsuga K.... Shimizu H. | 2010 | PLEC |
| 3 | Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. (20164844) | Kiritsi D.... Has C. | 2010 | TGM5 |
| 4 | Long-term follow-up of patients with recessive dystro phic epidermolysis bullosa in the Netherlands: expansion of the mutation databa se and unusual phenotype-genotype correlations. (19665875) | van den Akker P.C.... Jonkman M.F. | 2009 | COL7A1 |
| 5 | Epidermolysis bullosa nevus arising in a patient with Dowling-Meara type epidermolysis bullosa simplex with a novel K5 mutation. (19691749) | Sugiyama-Fukamatsu H.... Iwatsuki K. | 2009 | KRT5 |
| 6 | Autosomal dominant junctional epidermolysis bullosa. (19120338) | Almaani N.... McGrath J.A. | 2009 | COL17A1 |
| 7 | A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. (18030675) | Titeux M.... Hovnanian A. | 2008 | MMP1, COL7A1 |
| 8 | Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14. (18713255) | Yiasemides E.... Murrell D.F. | 2008 | KRT5, KRT14 |
| 9 | Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation. (18440202) | Saito M.... Ishiko A. | 2008 | COL7A1 |
| 10 | Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. (17434045) | Ee H.L.... McGrath J.A. | 2007 | COL7A1 |
| 11 | Oral steroid improves bullous pemphigoid-like clinical manifestations in non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation. (17596158) | Mabuchi E.... Katayama I. | 2007 | COL17A1 |
| 12 | Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. (17476356) | Pasmooij A.M.G.... Jonkman M.F. | 2007 | LAMB3, KRT14, COL17A1 |
| 13 | Protein structural analysis of BP180 mutant isoforms linked to non-Herlitz junctional epidermolysis bullosa. (16417243) | Fu C.L.... Van den Bergh F. | 2006 | COL17A1 |
| 14 | Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa? (15086338) | Ishiko A.... Nishikawa T. | 2004 | COL7A1 |
| 15 | The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. (15113589) | Nakamura H.... Shimizu H. | 2004 | COL7A1 |
| 16 | Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations. (14727126) | Murata T.... Nishikawa T. | 2004 | COL7A1 |
| 17 | Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia. (15491419) | Micheloni A.... D'Alessio M. | 2004 | ITGB4 |
| 18 | Expression and glycosylation of MUC1 in epidermolysis bullosa-associated and sporadic cutaneous squamous cell carcinomas. (15377338) | Cooper H.L.... Healy E. | 2004 | MUC1 |
| 19 | Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. (12655565) | Schuilenga-Hut P.H.L.... Scheffer H. | 2003 | KRT5, KRT14 |
| 20 | Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. (11810295) | Nakano A.... Uitto J. | 2002 | LAMC2, LAMB3, LAMA3 |
| 21 | Comprehensive analysis of gene expression profiles in keratinocytes from patients with generalized atrophic benign epidermolysis bullosa. (11952829) | Huber A.... Yancey K.B. | 2002 | COL17A1 |
| 22 | Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. (11843659) | Sato-Matsumura K.C.... Shimizu H. | 2002 | COL7A1 |
| 23 | DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa. (11298117) | Cserhalmi-Friedman P.B.... Christiano A.M. | 2001 | LAMB3 |
| 24 | Epidermolysis bullosa acquisita treated with basilixi mab, an interleukin-2 receptor antibody. (11411931) | Haufs M.G.... Haneke E. | 2001 | IL2RA |
| 25 | Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects. (11451332) | Hauschild R.... Bruckner-Tuderman L. | 2001 | LAMB3 |
| 26 | Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. (11328943) | Nakano A.... Uitto J. | 2001 | ITGB4, ITGA6, PLEC |
| 27 | Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy. (11260188) | Dharma B.... Ilchyshyn A. | 2001 | COL7A1 |
| 28 | Study on COL7A1 gene mutation in a epidermolysis bullosa pruriginosa family (11218887) | Chen X.... Zhu X. | 2000 | COL7A1 |
| 29 | K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber- Cockayne). (10782015) | Liovic M.... Komel R. | 2000 | KRT5 |
| 30 | Inflammatory variant of epidermolysis bullosa acquisita with IgG autoantibodies against type VII collagen and laminin alpha3. (10677099) | Jonkman M.F.... Pas H.H. | 2000 | LAMA3 |
| 31 | 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. (10951252) | Takizawa Y.... Shimizu H. | 2000 | LAMB3, DST, COL17A1 |
| 32 | Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. (10652002) | Rouan F.... Uitto J. | 2000 | PLEC |
| 33 | Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests. (9886273) | Takizawa Y.... Uitto J. | 1999 | PLEC |
| 34 | Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. (10577906) | Floeth M.... Bruckner-Tuderman L. | 1999 | LAMB3, COL17A1 |
| 35 | Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. (10523500) | Heinonen S.... Uitto J. | 1999 | COL7A1 |
| 36 | Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa. (10383751) | Tamai K.... Uitto J. | 1999 | COL7A1 |
| 37 | Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. (9579554) | Takizawa Y.... Uitto J. | 1998 | LAMC2, LAMB3 |
| 38 | A novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex. (9740251) | Galligan P.... Rothnagel J.A. | 1998 | KRT5 |
| 39 | Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. (9326326) | Pulkkinen L.... Uitto J. | 1997 | LAMB3, LAMA3 |
| 40 | Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. (8669466) | McGrath J.A.... Uitto J. | 1996 | LAMB3, LAMA3, COL17A1 |
| 41 | Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. (7883979) | Christiano A.M.... Uitto J. | 1995 | COL7A1 |
| 42 | Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. (7561171) | Chen H.... Epstein E.H. Jr. | 1995 | KRT14 |
| 43 | A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. (8530087) | McGrath J.A.... Uitto J. | 1995 | LAMC2, LAMB3, LAMA3 |
| 44 | Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. (7706759) | Vailly J.... Meneguzzi G. | 1995 | LAMB3 |
| 45 | A human keratin 14 'knockout': the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. (7525408) | Chan Y.... Fuchs E. | 1994 | KRT14 |
| 46 | Epidermolysis Bullosa Simplex (20301543) | Pfendner E.G.... Bruckner A.L. | 1993 | ITGB4, KRT5, KRT14 |
| 47 | Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils. (1347297) | Ryynanen M.... Uitto J. | 1992 | COL7A1 |
| 48 | Epidermolysis bullosa acquisita induced by GM-CSF: a role for eosinophils in treatment-related toxicity. (1520621) | Ward J.C.... Skubitz K.M. | 1992 | CSF2 |
| 49 | Alpha-fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant. (1721712) | Shulman L.P.... Simpson J.L. | 1991 | ACHE |
| 50 | Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome. (2653224) | Fine J.-D.... Wright T. | 1989 | COL7A1 |
