BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

332 related articles for article (PubMed ID: 9457915)

  • 1. 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]  

  • 2. 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]  

  • 3. 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.
    Vailly J; Pulkkinen L; Miquel C; Christiano AM; Gerecke D; Burgeson RE; Uitto J; Ortonne JP; Meneguzzi G
    J Invest Dermatol; 1995 Apr; 104(4):462-6. PubMed ID: 7706759
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.
    McGarth JA; Christiano AM; Pulkkinen L; Eady RA; Uitto J
    J Invest Dermatol; 1996 May; 106(5):1157-9. PubMed ID: 8618058
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.
    Christiano AM; Pulkkinen L; McGrath JA; Uitto J
    Prenat Diagn; 1997 Apr; 17(4):343-54. PubMed ID: 9160387
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa.
    Takizawa Y; Pulkkinen L; Shimizu H; Lin L; Hagiwara S; Nishikawa T; Uitto J
    J Invest Dermatol; 1998 May; 110(5):828-31. PubMed ID: 9579554
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
    Takizawa Y; Shimizu H; Pulkkinen L; Suzumori K; Kakinuma H; Uitto J; Nishikawa T
    J Invest Dermatol; 1998 Dec; 111(6):1239-41. PubMed ID: 9856852
    [No Abstract]   [Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects.
    Hauschild R; Wollina U; Bruckner-Tuderman L
    J Eur Acad Dermatol Venereol; 2001 Jan; 15(1):73-6. PubMed ID: 11451332
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins.
    Fassihi H; Ashton GH; Denyer J; Mellerio JE; Mason G; McGrath JA
    Clin Exp Dermatol; 2005 Mar; 30(2):180-2. PubMed ID: 15725250
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
    Nakano A; Chao SC; Pulkkinen L; Murrell D; Bruckner-Tuderman L; Pfendner E; Uitto J
    Hum Genet; 2002 Jan; 110(1):41-51. PubMed ID: 11810295
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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.
    McGrath JA; Kivirikko S; Ciatti S; Moss C; Dunnill GS; Eady RA; Rodeck CH; Christiano AM; Uitto J
    Genomics; 1995 Sep; 29(1):282-4. PubMed ID: 8530087
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.
    Kittridge A; Patel R; Novoa R; Tamburro J
    Pediatr Dermatol; 2014; 31(4):530-2. PubMed ID: 23278291
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.