BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

297 related articles for article (PubMed ID: 27899325)

  • 1. Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
    Vahidnezhad H; Youssefian L; Zeinali S; Saeidian AH; Sotoudeh S; Mozafari N; Abiri M; Kajbafzadeh AM; Barzegar M; Ertel A; Fortina P; Uitto J
    J Invest Dermatol; 2017 Mar; 137(3):660-669. PubMed ID: 27899325
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa.
    Rehman AU; Peter VG; Quinodoz M; Dawood M; Rivolta C
    Clin Dysmorphol; 2020 Apr; 29(2):86-89. PubMed ID: 31634165
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.
    Ben Brick AS; Laroussi N; Mesrati H; Kefi R; Bchetnia M; Lasram K; Ben Halim N; Romdhane L; Ouragini H; Marrakchi S; Boubaker MS; Meddeb Cherif M; Castiglia D; Hovnanian A; Abdelhak S; Turki H
    Arch Dermatol Res; 2014 May; 306(4):405-11. PubMed ID: 24170138
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.
    Saeidian AH; Youssefian L; Moreno Trevino MG; Fortuna G; Vahidnezhad H; Atanasova VS; Uitto J; Salas-Alanis JC; South AP
    Clin Exp Dermatol; 2018 Jul; 43(5):579-584. PubMed ID: 29473190
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
    Varki R; Sadowski S; Uitto J; Pfendner E
    J Med Genet; 2007 Mar; 44(3):181-92. PubMed ID: 16971478
    [TBL] [Abstract][Full Text] [Related]  

  • 6. High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.
    Csikós M; Szocs HI; Lászik A; Mecklenbeck S; Horváth A; Kárpáti S; Bruckner-Tuderman L
    Br J Dermatol; 2005 May; 152(5):879-86. PubMed ID: 15888141
    [TBL] [Abstract][Full Text] [Related]  

  • 7. One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa.
    Khaniani MS; Sohrabi N; Derakhshan NM; Derakhshan SM
    Ann Clin Lab Sci; 2015; 45(5):582-4. PubMed ID: 26586712
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations.
    von Bartenwerffer W; Has C; Arin MJ; Tantcheva-Poór I; Kreuter A; Kremer K; Arshah T; Hoffmann M; Eming SA; Kohlhase J; Krieg T; Bruckner-Tuderman L; Hartmann K
    Eur J Dermatol; 2011; 21(2):170-2. PubMed ID: 21382783
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
    Nakamura H; Sawamura D; Goto M; Sato-Matsumura KC; LaDuca J; Lee JY; Masunaga T; Shimizu H
    J Dermatol Sci; 2004 May; 34(3):195-200. PubMed ID: 15113589
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.
    Knöpfel N; Noguera-Morel L; Hernández-Martin A; García-Martin A; García M; Mencía Á; Pedrero RM; de Lucas R; Escámez MJ; Torrelo A
    Pediatr Dermatol; 2018 Mar; 35(2):e94-e98. PubMed ID: 29272047
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.
    Ouragini H; Cherif F; Kassar S; Floriddia G; Pascucci M; Daoud W; Osman-Dhahri AB; Boubaker S; Castiglia D; Abdelhak S
    J Dermatol Sci; 2009 May; 54(2):114-20. PubMed ID: 19261445
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.
    Mellerio JE; Dunnill MG; Allison W; Ashton GH; Christiano AM; Uitto J; Eady RA; McGrath JA
    J Invest Dermatol; 1997 Aug; 109(2):246-9. PubMed ID: 9242516
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.
    Dang N; Klingberg S; Marr P; Murrell DF
    J Dermatol Sci; 2007 Jun; 46(3):169-78. PubMed ID: 17425959
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa.
    Galehdari H; Mohammadian G; Azmoon S; Salehi B; Pedram M
    J Mol Diagn; 2010 May; 12(3):377-9. PubMed ID: 20190017
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Testing Mutation Consequences in Dystrophic Epidermolysis Bullosa.
    Akasaka E; Nakano H; Sawamura D
    Int J Mol Sci; 2021 Dec; 22(24):. PubMed ID: 34948168
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
    Dang N; Murrell DF
    Exp Dermatol; 2008 Jul; 17(7):553-68. PubMed ID: 18558993
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A.
    Liu J; Wang L
    Acta Dermatovenerol Croat; 2021 Dec; 29(3):164-166. PubMed ID: 34990346
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.
    Menoud A; Welle M; Tetens J; Lichtner P; Drögemüller C
    PLoS One; 2012; 7(6):e38823. PubMed ID: 22715415
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts.
    Gardella R; Zoppi N; Ferraboli S; Marini D; Tadini G; Barlati S; Colombi M
    Hum Mutat; 1999; 13(6):439-52. PubMed ID: 10408773
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 15.