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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

890 related articles for article (PubMed ID: 18374850)

  • 1. [Localised de novo dominant dystrophic epidermolysis bullosa].
    Bursztejn AC; Pinault AL; Le Louarn Y; Lacour JP; Charlesworth A; Meneguzzi G; Truchetet F
    Ann Dermatol Venereol; 2008 Mar; 135(3):195-9. PubMed ID: 18374850
    [TBL] [Abstract][Full Text] [Related]  

  • 2. "Sporadic" dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?
    Vaccaro M; Moretti G; Guarneri F; Cannavò S; Magaudda L
    Eur J Dermatol; 2000 Aug; 10(6):436-8. PubMed ID: 10980463
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
    Almaani N; Liu L; Dopping-Hepenstal PJ; Lai-Cheong JE; Wong A; Nanda A; Moss C; Martinéz AE; Mellerio JE; McGrath JA
    Acta Derm Venereol; 2011 May; 91(3):262-6. PubMed ID: 21448560
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.
    Weinel S; Lucky AW; Uitto J; Pfendner EG; Choo D
    Pediatr Dermatol; 2008; 25(2):210-4. PubMed ID: 18429782
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy.
    Dharma B; Moss C; McGrath JA; Mellerio JE; Ilchyshyn A
    Clin Exp Dermatol; 2001 Jan; 26(1):93-6. PubMed ID: 11260188
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII.
    Leverkus M; Ambach A; Hoefeld-Fegeler M; Kohlhase J; Schmidt E; Schumann H; Has C; Gollnick H
    Br J Dermatol; 2011 May; 164(5):1104-6. PubMed ID: 21275939
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
    van den Akker PC; van Essen AJ; Kraak MM; Meijer R; Nijenhuis M; Meijer G; Hofstra RM; Pas HH; Scheffer H; Jonkman MF
    J Dermatol Sci; 2009 Oct; 56(1):9-18. PubMed ID: 19665875
    [TBL] [Abstract][Full Text] [Related]  

  • 12. In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.
    Uitto J
    Acta Derm Venereol; 2011 May; 91(3):259-61. PubMed ID: 21547333
    [No Abstract]   [Full Text] [Related]  

  • 13. Denuded congenital lesions: recessive dystrophic epidermolysis bullosa.
    Fleming KF; Wu JJ; Dyson SW; Dadras SS; Metz BJ
    Dermatol Online J; 2009 Apr; 15(4):4. PubMed ID: 19450397
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.
    Riedl E; Klausegger A; Bauer JW; Foedinger D; Kittler H
    Pediatr Dermatol; 2009; 26(1):115-7. PubMed ID: 19250433
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
    van den Akker PC; Mellerio JE; Martinez AE; Liu L; Meijer R; Dopping-Hepenstal PJ; van Essen AJ; Scheffer H; Hofstra RM; McGrath JA; Jonkman MF
    J Med Genet; 2011 Mar; 48(3):160-7. PubMed ID: 21113014
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.
    Sawamura D; Mochitomi Y; Kanzaki T; Nakamura H; Shimizu H
    Br J Dermatol; 2006 Oct; 155(4):834-7. PubMed ID: 16965438
    [No Abstract]   [Full Text] [Related]  

  • 18. Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations.
    Schumann H; Has C; Kohlhase J; Bruckner-Tuderman L
    Br J Dermatol; 2008 Aug; 159(2):464-9. PubMed ID: 18565177
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pretibial epidermolysis bullosa.
    Rizzo C; Anandasabapathy N; Walters RF; Rosenman K; Kamino H; Prystowsky S; Schaffer JV
    Dermatol Online J; 2008 Oct; 14(10):26. PubMed ID: 19061625
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A Japanese family with dominant pretibial dystrophic epidermolysis bullosa: Identification of a new glycine substitution in the triple-helical collagenous domain of type VII collagen.
    Hamada T; Fukuda S; Ishii N; Abe T; Nagata K; Koro O; Hatano Y; Nakano H; Sawamura D; Hashimoto T
    J Dermatol Sci; 2009 Jun; 54(3):212-4. PubMed ID: 19269793
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 45.