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80 related items for PubMed ID: 9406826

  • 1. Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene.
    Christiano AM, Fine JD, Uitto J.
    J Invest Dermatol; 1997 Dec; 109(6):811-4. PubMed ID: 9406826
    [Abstract] [Full Text] [Related]

  • 2. Transient bullous dermolysis of the newborn in three generations.
    Fassihi H, Diba VC, Wessagowit V, Dopping-Hepenstal PJ, Jones CA, Burrows NP, McGrath JA.
    Br J Dermatol; 2005 Nov; 153(5):1058-63. PubMed ID: 16225626
    [Abstract] [Full Text] [Related]

  • 3. Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.
    Hammami-Hauasli N, Raghunath M, Küster W, Bruckner-Tuderman L.
    J Invest Dermatol; 1998 Dec; 111(6):1214-9. PubMed ID: 9856844
    [Abstract] [Full Text] [Related]

  • 4. Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.
    Tamai K, Ishida-Yamamoto A, Matsuo S, Iizuka H, Hashimoto I, Christiano AM, Uitto J, McGrath JA.
    Lab Invest; 1997 Feb; 76(2):209-17. PubMed ID: 9042157
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
    Järvikallio A, Pulkkinen L, Uitto J.
    Hum Mutat; 1997 Jun; 10(5):338-47. PubMed ID: 9375848
    [Abstract] [Full Text] [Related]

  • 8. Three new cases of transient bullous dermolysis of the newborn.
    Hanson SG, Fine JD, Levy ML.
    J Am Acad Dermatol; 1999 Mar; 40(3):471-6. PubMed ID: 10071321
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.
    Shi BJ, Zhu XJ, Liu Y, Hao J, Yan GF, Wang SP, Wang XY, Diao QC.
    Int J Dermatol; 2015 Apr; 54(4):438-42. PubMed ID: 25800346
    [Abstract] [Full Text] [Related]

  • 11. Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa within the same family: two phenotypes associated with a COL7A1 mutation.
    Murase K, Kanoh H, Ishii N, Hashimoto T, Nakano H, Sawamura D, Seishima M.
    Acta Derm Venereol; 2011 Oct; 91(6):730-1. PubMed ID: 21629976
    [No Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin.
    Hammami-Hauasli N, Kalinke DU, Schumann H, Kalinke U, Pontz BF, Anton-Lamprecht I, Pulkkinen L, Zimmermann M, Uitto J, Bruckner-Tuderman L.
    J Invest Dermatol; 1997 Sep 26; 109(3):384-9. PubMed ID: 9284109
    [Abstract] [Full Text] [Related]

  • 14. Intraepidermal type VII collagen. Evidence for abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa.
    Fine JD, Horiguchi Y, Stein DH, Esterly NB, Leigh IM.
    J Am Acad Dermatol; 1990 Feb 26; 22(2 Pt 1):188-95. PubMed ID: 2104504
    [Abstract] [Full Text] [Related]

  • 15. [Hereditary epidermolysis bullosa: towards classification and genetic counseling based upon identification of molecular defects].
    Hovnanian A, de Prost Y.
    Arch Pediatr; 1994 Nov 26; 1(11):1028-33. PubMed ID: 7530560
    [Abstract] [Full Text] [Related]

  • 16. Autosomal dominant bullous dermolysis of the newborn associated with a heterozygous missense mutation p.G1673R in type VII collagen.
    Frew J, Lim SW, Klausseger A, Chow CW, Tran K, Su J, Orchard D, Varigos G, Sawamura D, Nishie W, Shimizu H, Murrell DF.
    Australas J Dermatol; 2011 Nov 26; 52(4):e1-4. PubMed ID: 22070715
    [Abstract] [Full Text] [Related]

  • 17. Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.
    Cserhalmi-Friedman PB, Karpati S, Horvath A, Christiano AM.
    Arch Dermatol Res; 1997 Oct 26; 289(11):640-5. PubMed ID: 9444387
    [Abstract] [Full Text] [Related]

  • 18. Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene.
    Uitto J, Christiano AM.
    Arch Dermatol Res; 1994 Oct 26; 287(1):16-22. PubMed ID: 7726631
    [Abstract] [Full Text] [Related]

  • 19. Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen.
    Boccaletti V, Zambruno G, Castiglia D, Magnani C, Tognetti E, Fabrizi G, Cortelazzi C, Pagliarello C, Di Nuzzo S.
    Pediatr Dermatol; 2015 Oct 26; 32(2):e42-7. PubMed ID: 25639640
    [Abstract] [Full Text] [Related]

  • 20. Type VII collagen is expressed but anchoring fibrils are defective in dystrophic epidermolysis bullosa inversa.
    Bruckner-Tuderman L, Niemi KM, Kero M, Schnyder UW, Reunala T.
    Br J Dermatol; 1990 Mar 26; 122(3):383-90. PubMed ID: 2182097
    [Abstract] [Full Text] [Related]

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