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Journal Abstract Search

468 related items for PubMed ID: 10367729

  • 21. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.
    Christiano AM, Anhalt G, Gibbons S, Bauer EA, Uitto J.
    Genomics; 1994 May 01; 21(1):160-8. PubMed ID: 8088783
    [Abstract] [Full Text] [Related]

  • 22. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
    Varki R, Sadowski S, Pfendner E, Uitto J.
    J Med Genet; 2006 Aug 01; 43(8):641-52. PubMed ID: 16473856
    [Abstract] [Full Text] [Related]

  • 23. Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
    Chen F, Wei R, Deng D, Zhang X, Cao Y, Pan C, Wang Y, Cao Q, Wang J, Zeng M, Huang L, Gu Y, Yao Z, Li M.
    J Eur Acad Dermatol Venereol; 2023 Feb 01; 37(2):411-419. PubMed ID: 36287101
    [Abstract] [Full Text] [Related]

  • 24. Autoimmune and inherited subepidermal blistering diseases: advances in the clinic and the laboratory.
    Schmidt E, Zillikens D.
    Adv Dermatol; 2000 Feb 01; 16():113-57; discussion 158. PubMed ID: 11094626
    [Abstract] [Full Text] [Related]

  • 25. Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran.
    Barzegar M, Asadi-Kani Z, Mozafari N, Vahidnezhad H, Kariminejad A, Toossi P.
    Int J Dermatol; 2015 Oct 01; 54(10):e416-23. PubMed ID: 26220012
    [Abstract] [Full Text] [Related]

  • 26. Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa.
    McMillan JR, McGrath JA, Tidman MJ, Eady RA.
    J Invest Dermatol; 1998 Feb 01; 110(2):132-7. PubMed ID: 9457907
    [Abstract] [Full Text] [Related]

  • 27. Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes.
    Khan FF, Khan N, Rehman S, Ejaz A, Ali U, Erfan M, Ahmed ZM, Naeem M.
    Biomolecules; 2021 Apr 22; 11(5):. PubMed ID: 33921969
    [Abstract] [Full Text] [Related]

  • 28. Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
    Dunnill MG, McGrath JA, Richards AJ, Christiano AM, Uitto J, Pope FM, Eady RA.
    J Invest Dermatol; 1996 Aug 22; 107(2):171-7. PubMed ID: 8757758
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  • 30. 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 22; 148(6):1787-96. PubMed ID: 8669466
    [Abstract] [Full Text] [Related]

  • 31. Epidermolysis Bullosa: Pediatric Perspectives.
    Hon KL, Chu S, Leung AKC.
    Curr Pediatr Rev; 2022 Jun 22; 18(3):182-190. PubMed ID: 34036913
    [Abstract] [Full Text] [Related]

  • 32. Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa.
    Bruckner-Tuderman L, Höpfner B, Hammami-Hauasli N.
    Matrix Biol; 1999 Feb 22; 18(1):43-54. PubMed ID: 10367730
    [Abstract] [Full Text] [Related]

  • 33. Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).
    Christiano AM, LaForgia S, Paller AS, McGuire J, Shimizu H, Uitto J.
    Mol Med; 1996 Jan 22; 2(1):59-76. PubMed ID: 8900535
    [Abstract] [Full Text] [Related]

  • 34. Generalized atrophic benign epidermolysis bullosa.
    Darling TN, Bauer JW, Hintner H, Yancey KB.
    Adv Dermatol; 1997 Jan 22; 13():87-119; discussion 120. PubMed ID: 9551142
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  • 37. [Hereditary epidermolysis bullosa: towards classification and genetic counseling based upon identification of molecular defects].
    Hovnanian A, de Prost Y.
    Arch Pediatr; 1994 Nov 22; 1(11):1028-33. PubMed ID: 7530560
    [Abstract] [Full Text] [Related]

  • 38. Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.
    Arline Diana I, Tan EC, Gondokaryono SP, Koh MJ, Dwiyana RF, Rahardja JI, Yogya Y, Rafi'ee K, Suwarsa O.
    Australas J Dermatol; 2023 Nov 22; 64(4):e327-e332. PubMed ID: 37452458
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  • 40. Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.
    Christiano AM, Ryynänen M, Uitto J.
    Proc Natl Acad Sci U S A; 1994 Apr 26; 91(9):3549-53. PubMed ID: 8170945
    [Abstract] [Full Text] [Related]

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