These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
196 related articles for article (PubMed ID: 7706760)
21. 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. Takizawa Y; Hiraoka Y; Takahashi H; Ishiko A; Yasuraoka I; Hashimoto I; Aiso S; Nishikawa T; Shimizu H J Invest Dermatol; 2000 Aug; 115(2):312-6. PubMed ID: 10951252 [TBL] [Abstract][Full Text] [Related]
22. Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation. McMillan JR; McGrath JA; Pulkkinen L; Kon A; Burgeson RE; Ortonne JP; Meneguzzi G; Uitto J; Eady RA Br J Dermatol; 1997 Jun; 136(6):817-22. PubMed ID: 9217810 [TBL] [Abstract][Full Text] [Related]
23. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Gatalica B; Pulkkinen L; Li K; Kuokkanen K; Ryynänen M; McGrath JA; Uitto J Am J Hum Genet; 1997 Feb; 60(2):352-65. PubMed ID: 9012408 [TBL] [Abstract][Full Text] [Related]
24. Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse. Spirito F; Charlesworth A; Linder K; Ortonne JP; Baird J; Meneguzzi G J Invest Dermatol; 2002 Sep; 119(3):684-91. PubMed ID: 12230513 [TBL] [Abstract][Full Text] [Related]
25. Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa. Mittwollen R; Wohlfart S; Park J; Grosch E; Has C; Hohenester E; Schneider H; Hammersen J J Eur Acad Dermatol Venereol; 2020 Sep; 34(9):2127-2134. PubMed ID: 32124492 [TBL] [Abstract][Full Text] [Related]
26. LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels. Pulkkinen L; Jonkman MF; McGrath JA; Kuijpers A; Paller AS; Uitto J Lab Invest; 1998 Jul; 78(7):859-67. PubMed ID: 9690563 [TBL] [Abstract][Full Text] [Related]
27. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. Nakano A; Lestringant GG; Paperna T; Bergman R; Gershoni R; Frossard P; Kanaan M; Meneguzzi G; Richard G; Pfendner E; Uitto J; Pulkkinen L; Sprecher E J Am Acad Dermatol; 2002 Apr; 46(4):510-6. PubMed ID: 11907499 [TBL] [Abstract][Full Text] [Related]
28. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Aberdam D; Galliano MF; Vailly J; Pulkkinen L; Bonifas J; Christiano AM; Tryggvason K; Uitto J; Epstein EH; Ortonne JP Nat Genet; 1994 Mar; 6(3):299-304. PubMed ID: 8012394 [TBL] [Abstract][Full Text] [Related]
29. Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. Pulkkinen L; Meneguzzi G; McGrath JA; Xu Y; Blanchet-Bardon C; Ortonne JP; Christiano AM; Uitto J J Invest Dermatol; 1997 Aug; 109(2):232-7. PubMed ID: 9242513 [TBL] [Abstract][Full Text] [Related]
30. Mutations in the laminin 5 LAMB3 gene in generalized atrophic benign epidermolysis bullosa. Anton-Lamprecht I J Invest Dermatol; 1995 Dec; 105(6):856-7. PubMed ID: 7490484 [No Abstract] [Full Text] [Related]
31. Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. Nakano A; Pfendner E; Hashimoto I; Uitto J J Invest Dermatol; 2000 Sep; 115(3):493-8. PubMed ID: 11023379 [TBL] [Abstract][Full Text] [Related]
32. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Kivirikko S; McGrath JA; Pulkkinen L; Uitto J; Christiano AM Hum Mol Genet; 1996 Feb; 5(2):231-7. PubMed ID: 8824879 [TBL] [Abstract][Full Text] [Related]
33. Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3). Pulkkinen L; McGrath JA; Christiano AM; Uitto J Hum Mutat; 1995; 6(1):77-84. PubMed ID: 7550237 [TBL] [Abstract][Full Text] [Related]
34. Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin. Takizawa Y; Shimizu H; Nishikawa T; Hatta N; Pulkkinen L; Uitto J J Invest Dermatol; 1997 Jun; 108(6):943-6. PubMed ID: 9182827 [TBL] [Abstract][Full Text] [Related]
35. Gentamicin induces Lincoln V; Cogan J; Hou Y; Hirsch M; Hao M; Alexeev V; De Luca M; De Rosa L; Bauer JW; Woodley DT; Chen M Proc Natl Acad Sci U S A; 2018 Jul; 115(28):E6536-E6545. PubMed ID: 29946029 [TBL] [Abstract][Full Text] [Related]
36. Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online. Kon A; Pulkkinen L; Hara M; Tamai K; Tagami H; Hashimoto I; Uitto J Hum Mutat; 1998; 12(4):288. PubMed ID: 10660342 [TBL] [Abstract][Full Text] [Related]
37. Acquired junctional epidermolysis bullosa associated with IgG autoantibodies to the beta subunit of laminin-5. Kirtschig G; Caux F; McMillan JR; Bedane C; Aberdam D; Ortonne JP; Eady RA; Prost C Br J Dermatol; 1998 Jan; 138(1):125-30. PubMed ID: 9536235 [TBL] [Abstract][Full Text] [Related]
38. Dermal eosinophilic infiltrate in junctional epidermolysis bullosa. Saraiya A; Yang CS; Kim J; Bercovitch L; Robinson-Bostom L; Telang G J Cutan Pathol; 2015 Aug; 42(8):559-63. PubMed ID: 25950805 [TBL] [Abstract][Full Text] [Related]
39. [Junctional epidermolysis bullosa. Identification of a new mutation in two Lebanese families]. Ayoub N; Tomb R; Charlesworth A; Meneguzzi G Ann Dermatol Venereol; 2005; 132(6-7 Pt 1):550-3. PubMed ID: 16142104 [TBL] [Abstract][Full Text] [Related]
40. A novel LAMA3 mutation in a newborn with junctional epidermolysis bullosa herlitz type. Mazzucchelli I; Garofoli F; Decembrino L; Castiglia D; Tadini G; Bellingeri A; Borghesi A; Tzialla C; Manzoni P; Stronati M Neonatology; 2011; 99(3):188-91. PubMed ID: 20881434 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]