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.
170 related articles for article (PubMed ID: 16142104)
1. [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]
2. 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]
3. Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa. Jeon IK; Kim SE; Kim SC J Dermatol; 2014 Apr; 41(4):322-4. PubMed ID: 24533970 [TBL] [Abstract][Full Text] [Related]
4. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Kivirikko S; McGrath JA; Baudoin C; Aberdam D; Ciatti S; Dunnill MG; McMillan JR; Eady RA; Ortonne JP; Meneguzzi G Hum Mol Genet; 1995 May; 4(5):959-62. PubMed ID: 7633458 [TBL] [Abstract][Full Text] [Related]
5. A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Pulkkinen L; Christiano AM; Gerecke D; Wagman DW; Burgeson RE; Pittelkow MR; Uitto J Genomics; 1994 Nov; 24(2):357-60. PubMed ID: 7698759 [TBL] [Abstract][Full Text] [Related]
6. Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa. Cserhalmi PB; Horvath A; Boros V; Sapi Z; Kormendi M; Christiano AM; Karpati S Exp Dermatol; 1997 Apr; 6(2):70-4. PubMed ID: 9209887 [TBL] [Abstract][Full Text] [Related]
7. Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa. Pulkkinen L; Cserhalmi-Friedman PB; Tang M; Ryan MC; Uitto J; Christiano AM Lab Invest; 1998 Sep; 78(9):1067-76. PubMed ID: 9759651 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Detection of novel LAMA3 mutation in Herlitz junctional epidermolysis bullosa in a Jordanian family. Badran EF; Battah HA; Akl KF; Khalil RW; Al Amori I Australas J Dermatol; 2013 Aug; 54(3):218-21. PubMed ID: 22963541 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. Takizawa Y; Shimizu H; Pulkkinen L; Hiraoka Y; McGrath JA; Suzumori K; Aiso S; Uitto J; Nishikawa T J Invest Dermatol; 1998 Feb; 110(2):174-8. PubMed ID: 9457915 [TBL] [Abstract][Full Text] [Related]
12. Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. Posteraro P; De Luca N; Meneguzzi G; El Hachem M; Angelo C; Gobello T; Tadini G; Zambruno G; Castiglia D J Invest Dermatol; 2004 Oct; 123(4):639-48. PubMed ID: 15373767 [TBL] [Abstract][Full Text] [Related]
13. 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]
16. 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]
17. Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency. GostyĆska KB; Yan Yuen W; Pasmooij AMG; Stellingsma C; Pas HH; Lemmink H; Jonkman MF Eur J Hum Genet; 2016 Jan; 25(1):94-99. PubMed ID: 27827380 [TBL] [Abstract][Full Text] [Related]
18. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. McGrath JA; Ashton GH; Mellerio JE; Salas-Alanis JC; Swensson O; McMillan JR; Eady RA J Invest Dermatol; 1999 Sep; 113(3):314-21. PubMed ID: 10469327 [TBL] [Abstract][Full Text] [Related]
19. Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population. Castori M; Floriddia G; De Luca N; Pascucci M; Ghirri P; Boccaletti V; El Hachem M; Zambruno G; Castiglia D Br J Dermatol; 2008 Jan; 158(1):38-44. PubMed ID: 17916201 [TBL] [Abstract][Full Text] [Related]
20. Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. Christiano AM; Pulkkinen L; Eady RA; Uitto J J Invest Dermatol; 1996 Apr; 106(4):775-7. PubMed ID: 8618020 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]