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Journal Abstract Search

187 related items for PubMed ID: 10701857

  • 21. Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.
    Christiano AM, Pulkkinen L, McGrath JA, Uitto J.
    Prenat Diagn; 1997 Apr; 17(4):343-54. PubMed ID: 9160387
    [Abstract] [Full Text] [Related]

  • 22. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.
    Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, Relic J, Marr P, Tran K, Turner A, Smith N, Murrell DF.
    Acta Derm Venereol; 2008 Apr; 88(5):438-48. PubMed ID: 18779879
    [Abstract] [Full Text] [Related]

  • 23. Deficiency of the integrin beta 4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties.
    Niessen CM, van der Raaij-Helmer MH, Hulsman EH, van der Neut R, Jonkman MF, Sonnenberg A.
    J Cell Sci; 1996 Jul; 109 ( Pt 7)():1695-706. PubMed ID: 8832392
    [Abstract] [Full Text] [Related]

  • 24. Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia.
    Masunaga T, Ogawa J, Akiyama M, Nishikawa T, Shimizu H, Ishiko A.
    J Dermatol; 2017 Feb; 44(2):160-166. PubMed ID: 27607025
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  • 27. Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia.
    Turco AE, Peissel B, Rossetti S, Selicorni A, Manoukian S, Brusasco A, Tadini G, Galimberti A, Tassis B, Turolla L.
    Am J Med Genet; 1993 Dec 01; 47(8):1225-30. PubMed ID: 8291561
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  • 28. (New) antenatal ultrasound signs of fetal junctional epidermolysis bullosa: A case report and systematic review of literature.
    Tosto V, Herrero B, Illescas T, De la Calle Fernandez-Miranda M, Moreno-Sanz B, de Lucas R, Bartha JL, Antolin E.
    Eur J Obstet Gynecol Reprod Biol; 2023 Nov 01; 290():43-50. PubMed ID: 37717401
    [Abstract] [Full Text] [Related]

  • 29. Junctional epidermolysis bullosa and pyloric atresia: a distinct entity. Clinical and pathological studies in five patients.
    Valari MD, Phillips RJ, Lake BD, Harper JI.
    Br J Dermatol; 1995 Nov 01; 133(5):732-6. PubMed ID: 8555025
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  • 30. Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.
    Chavanas S, Gache Y, Vailly J, Kanitakis J, Pulkkinen L, Uitto J, Ortonne J, Meneguzzi G.
    Hum Mol Genet; 1999 Oct 01; 8(11):2097-105. PubMed ID: 10484780
    [Abstract] [Full Text] [Related]

  • 31. Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa: fetal skin biopsy using a 1-mm microendoscope.
    Seubert DE, Feldman B, Krivchenia EL, Evans MI, Barki G, Leach R, Johnson MP.
    Fetal Diagn Ther; 2000 Oct 01; 15(2):89-92. PubMed ID: 10720872
    [Abstract] [Full Text] [Related]

  • 32. Gastric outlet obstruction and epidermolysis bullosa.
    Shaw DW, Fine JD, Piacquadio DJ, Greenberg MJ, Wang-Rodriguez J, Eichenfield LF.
    J Am Acad Dermatol; 1997 Feb 01; 36(2 Pt 2):304-10. PubMed ID: 9039206
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  • 33. Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings.
    Puvabanditsin S, Garrow E, Kim DU, Tirakitsoontorn P, Luan J.
    J Am Acad Dermatol; 2001 Feb 01; 44(2 Suppl):330-5. PubMed ID: 11174408
    [Abstract] [Full Text] [Related]

  • 34. [Prenatal diagnosis of lethal junctional epidermolysis bullosa by fetal skin biopsy].
    Shimizu H, Schofield OM, Eady RA.
    Nihon Hifuka Gakkai Zasshi; 1991 Apr 01; 101(5):539-45. PubMed ID: 1890750
    [Abstract] [Full Text] [Related]

  • 35. Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia.
    Allegra M, Gagnoux-Palacios L, Gache Y, Roques S, Lestringant G, Ortonne JP, Meneguzzi G.
    J Invest Dermatol; 2003 Dec 01; 121(6):1336-43. PubMed ID: 14675179
    [Abstract] [Full Text] [Related]

  • 36. The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature.
    Lestringant GG, Akel SR, Qayed KI.
    Arch Dermatol; 1992 Aug 01; 128(8):1083-6. PubMed ID: 1497363
    [Abstract] [Full Text] [Related]

  • 37. Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia.
    D'Alessio M, Zambruno G, Charlesworth A, Lacour JP, Meneguzzi G.
    J Invest Dermatol; 2008 Dec 01; 128(12):2815-9. PubMed ID: 18563182
    [Abstract] [Full Text] [Related]

  • 38. Markedly elevated alpha-fetoprotein and positive acetylcholinesterase in amniotic fluid from a pregnancy affected with dystrophic epidermolysis bullosa.
    Drugan A, Vadas A, Sujov P, Gershoni-Baruch R.
    Fetal Diagn Ther; 1995 Dec 01; 10(1):37-40. PubMed ID: 7536005
    [Abstract] [Full Text] [Related]

  • 39. Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family.
    McGrath JA, McMillan JR, Dunnill MG, Pulkkinen L, Christiano AM, Rodeck CH, Eady RA, Uitto J.
    Prenat Diagn; 1995 Jul 01; 15(7):647-54. PubMed ID: 8532625
    [Abstract] [Full Text] [Related]

  • 40. Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.
    Mellerio JE, Pulkkinen L, McMillan JR, Lake BD, Horn HM, Tidman MJ, Harper JI, McGrath JA, Uitto J, Eady RA.
    Br J Dermatol; 1998 Nov 01; 139(5):862-71. PubMed ID: 9892956
    [Abstract] [Full Text] [Related]

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