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 *

191 related articles for article (PubMed ID: 9038345)

  • 21. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.
    McGrath JA; Gatalica B; Li K; Dunnill MG; McMillan JR; Christiano AM; Eady RA; Uitto J
    Am J Pathol; 1996 Jun; 148(6):1787-96. PubMed ID: 8669466
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex.
    Schuilenga-Hut PH; Scheffer H; Pas HH; Nijenhuis M; Buys CH; Jonkman MF
    J Invest Dermatol; 2002 Apr; 118(4):626-30. PubMed ID: 11918708
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Revertant mosaicism--patchwork in the skin.
    Jonkman MF; Pasmooij AM
    N Engl J Med; 2009 Apr; 360(16):1680-2. PubMed ID: 19369679
    [No Abstract]   [Full Text] [Related]  

  • 24. Successful therapeutic transplantation of revertant skin in epidermolysis bullosa.
    Gostyński A; Pasmooij AM; Jonkman MF
    J Am Acad Dermatol; 2014 Jan; 70(1):98-101. PubMed ID: 24176523
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy.
    Pasmooij AM; Jonkman MF; Uitto J
    Discov Med; 2012 Sep; 14(76):167-79. PubMed ID: 23021371
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa.
    Pulkkinen L; Marinkovich MP; Tran HT; Lin L; Herron GS; Uitto J
    J Invest Dermatol; 1999 Dec; 113(6):1114-8. PubMed ID: 10636730
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Revertant Mosaicism in Epidermolysis Bullosa.
    Meyer-Mueller C; Osborn MJ; Tolar J; Boull C; Ebens CL
    Biomedicines; 2022 Jan; 10(1):. PubMed ID: 35052793
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.
    Nakamura H; Sawamura D; Goto M; Nakamura H; Kida M; Ariga T; Sakiyama Y; Tomizawa K; Mitsui H; Tamaki K; Shimizu H
    Int J Mol Med; 2006 Aug; 18(2):333-7. PubMed ID: 16820943
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [A case of Neonatal generalized atrophic benign epidermolysis bullosa due to variants of COL17A1 gene].
    Zhu S; Qiao J; Shen N; Zhou Y; Cen M; Jiang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jun; 41(6):741-744. PubMed ID: 38818561
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Realm of revertant mosaicism expanding.
    Jonkman MF; Pasmooij AM
    J Invest Dermatol; 2012 Mar; 132(3 Pt 1):514-6. PubMed ID: 22327264
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation.
    van Leusden MR; Pas HH; Gedde-Dahl T; Sonnenberg A; Jonkman MF
    Lab Invest; 2001 Jun; 81(6):887-94. PubMed ID: 11406649
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1.
    Shimizu H; Takizawa Y; Pulkkinen L; Zone JJ; Matsumoto K; Saida T; Uitto J; Nishikawa T
    J Invest Dermatol; 1998 Nov; 111(5):887-92. PubMed ID: 9804354
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex.
    Huber M; Floeth M; Borradori L; Schäcke H; Rugg EL; Lane EB; Frenk E; Hohl D; Bruckner-Tuderman L
    J Invest Dermatol; 2002 Jan; 118(1):185-92. PubMed ID: 11851893
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa.
    Scheffer H; Stulp RP; Verlind E; van der Meulen M; Bruckner-Tuderman L; Gedde-Dahl T; te Meerman GJ; Sonnenberg A; Buys CH; Jonkman MF
    Hum Genet; 1997 Aug; 100(2):230-5. PubMed ID: 9254855
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain.
    Tasanen K; Floeth M; Schumann H; Bruckner-Tuderman L
    J Invest Dermatol; 2000 Aug; 115(2):207-12. PubMed ID: 10951237
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Heterozygosity for a Novel Missense Mutation in the ITGB4 Gene Associated With Autosomal Dominant Epidermolysis Bullosa.
    Turcan I; Pasmooij AM; van den Akker PC; Lemmink H; Halmos GB; Sinke RJ; Jonkman MF
    JAMA Dermatol; 2016 May; 152(5):558-62. PubMed ID: 26817667
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.
    Pulkkinen L; Bruckner-Tuderman L; August C; Uitto J
    Am J Pathol; 1998 Apr; 152(4):935-41. PubMed ID: 9546354
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Recessive epidermolysis bullosa simplex phenotype reproduced in vitro: ablation of keratin 14 is partially compensated by keratin 17.
    El Ghalbzouri A; Jonkman M; Kempenaar J; Ponec M
    Am J Pathol; 2003 Nov; 163(5):1771-9. PubMed ID: 14578178
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 10.