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 *

157 related articles for article (PubMed ID: 11952672)

  • 21. 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]  

  • 22. Esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations.
    Zimmer KP; Schumann H; Mecklenbeck S; Bruckner-Tuderman L
    Gastroenterology; 2002 Jan; 122(1):220-5. PubMed ID: 11781296
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.
    Sato-Matsumura KC; Yasukawa K; Tomita Y; Shimizu H
    Arch Dermatol; 2002 Feb; 138(2):269-71. PubMed ID: 11843659
    [No Abstract]   [Full Text] [Related]  

  • 24. 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]  

  • 25. A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa.
    Ren X; Liu JY; Zhai LY; Yao Q; Dai X; Cai Z; Liu P; Sun K; Huang C; Wang QK; Liu M
    Br J Dermatol; 2008 Mar; 158(3):618-20. PubMed ID: 18067480
    [No Abstract]   [Full Text] [Related]  

  • 26. A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
    Mellerio JE; Salas-Alanis JC; Talamantes ML; Horn H; Tidman MJ; Ashton GH; Eady RA; McGrath JA
    Br J Dermatol; 1998 Oct; 139(4):730-7. PubMed ID: 9892921
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Multiple Milia as an Isolated Skin Manifestation of Dominant Dystrophic Epidermolysis Bullosa: Evidence of Phenotypic Variability.
    Akasaka E; Nakano H; Takagi Y; Toyomaki Y; Sawamura D
    Pediatr Dermatol; 2017 Mar; 34(2):e106-e108. PubMed ID: 28008652
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.
    Nagai M; Nagai H; Tominaga C; Sakaguchi Y; Jitsukawa O; Ohgo N; Nishigori C; Yamanishi K
    Acta Derm Venereol; 2015 May; 95(5):629-31. PubMed ID: 25425313
    [No Abstract]   [Full Text] [Related]  

  • 30. Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.
    Terracina M; Posteraro P; Schubert M; Sonego G; Atzori F; Zambruno G; Bruckner-Tuderman L; Castiglia D
    J Invest Dermatol; 1998 Nov; 111(5):744-50. PubMed ID: 9804332
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa.
    Kim J; Kim SC; Yasukawa K; Shimizu H
    J Dermatol Sci; 2003 Dec; 33(3):180-3. PubMed ID: 14643524
    [No Abstract]   [Full Text] [Related]  

  • 32. A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa.
    Sawamura D; Nizeki H; Miyagawa S; Shinkuma S; Shimizu H
    Br J Dermatol; 2006 May; 154(5):995-7. PubMed ID: 16634910
    [No Abstract]   [Full Text] [Related]  

  • 33. A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity.
    Liu YH; Shang X; Li ZT; Wu YM; Li LF; Xu XM
    Gene; 2013 Jul; 524(2):377-80. PubMed ID: 23624125
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
    Christiano AM; McGrath JA; Tan KC; Uitto J
    Am J Hum Genet; 1996 Apr; 58(4):671-81. PubMed ID: 8644729
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa.
    Lee JY; Pulkkinen L; Liu HS; Chen YF; Uitto J
    J Invest Dermatol; 1997 Jun; 108(6):947-9. PubMed ID: 9182828
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Dominant pretibial dystrophic epidermolysis bullosa in an Italian family.
    Vaccaro M; Guarneri C; Guarneri F; Lentini M; Cannavò SP
    Pediatr Dermatol; 2020 Nov; 37(6):1207-1209. PubMed ID: 32840914
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Transient bullous lesions - a case of de novo mutation in the COL7A1 gene in patient with Epidermolysis bullosa dystrophica].
    Sobczyńska-Tomaszewska A; Wertheim-Tysarowska K; Kosykowska E; Kowalewski C
    Med Wieku Rozwoj; 2011; 15(2):119-25. PubMed ID: 22002042
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa: more severe phenotype in female members of a Chinese family.
    Deng W; Chen S; Lu C; Zhou X; Hu B; Chen M; Lai W; Wang Y
    J Dermatol Sci; 2008 Feb; 49(2):166-9. PubMed ID: 17900868
    [No Abstract]   [Full Text] [Related]  

  • 39. Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.
    Winberg JO; Hammami-Hauasli N; Nilssen O; Anton-Lamprecht I; Naylor SL; Kerbacher K; Zimmermann M; Krajci P; Gedde-Dahl T; Bruckner-Tuderman L
    Hum Mol Genet; 1997 Jul; 6(7):1125-35. PubMed ID: 9215684
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1.
    Wessagowit V; Ashton GH; Mohammedi R; Salas-Alanis JC; Denyer JE; Mellerio JE; Eady RA; McGrath JA
    Clin Exp Dermatol; 2001 Jan; 26(1):97-9. PubMed ID: 11260189
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.