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Journal Abstract Search

187 related items for PubMed ID: 10701857

  • 1. Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.
    Lépinard C, Descamps P, Meneguzzi G, Blanchet-Bardon C, Germain DP, Larget-Piet L, Beringue F, Berchel C, Muller F, Dumez Y.
    Prenat Diagn; 2000 Jan; 20(1):70-5. PubMed ID: 10701857
    [Abstract] [Full Text] [Related]

  • 2. Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein.
    Dolan CR, Smith LT, Sybert VP.
    Am J Med Genet; 1993 Sep 01; 47(3):395-400. PubMed ID: 7510931
    [Abstract] [Full Text] [Related]

  • 3. Role of elevated alpha-fetoprotein in prenatal diagnosis of junctional epidermolysis bullosa and pyloric atresia.
    Nesin M, Seymour C, Kim Y.
    Am J Perinatol; 1994 Jul 01; 11(4):286-7. PubMed ID: 7524513
    [Abstract] [Full Text] [Related]

  • 4. Prenatal findings in epidermolysis bullosa with pyloric atresia in a family not known to be at risk.
    De Jenlis Sicot B, Deruelle P, Kacet N, Vaillant C, Subtil D.
    Ultrasound Obstet Gynecol; 2005 Jun 01; 25(6):607-9. PubMed ID: 15912478
    [Abstract] [Full Text] [Related]

  • 5. A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination.
    Gache Y, Romero-Graillet C, Spadafora A, Lépinard C, Descamps P, Bardon CB, Ortonne JP, Meneguzzi G.
    J Invest Dermatol; 1998 Nov 01; 111(5):914-6. PubMed ID: 9804362
    [No Abstract] [Full Text] [Related]

  • 6. Absence of detectable alpha 6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Application for prenatal diagnosis in a family at risk for recurrence.
    Shimizu H, Suzumori K, Hatta N, Nishikawa T.
    Arch Dermatol; 1996 Aug 01; 132(8):919-25. PubMed ID: 8712842
    [Abstract] [Full Text] [Related]

  • 7. Prenatal diagnosis of inherited epidermolysis bullosa in a patient with no family history: a case report and literature review.
    Azarian M, Dreux S, Vuillard E, Meneguzzi G, Haber S, Guimiot F, Muller F.
    Prenat Diagn; 2006 Jan 01; 26(1):57-9. PubMed ID: 16378325
    [Abstract] [Full Text] [Related]

  • 8. Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia.
    Brown TA, Gil SG, Sybert VP, Lestringant GG, Tadini G, Caputo R, Carter WG.
    J Invest Dermatol; 1996 Sep 01; 107(3):384-91. PubMed ID: 8751975
    [Abstract] [Full Text] [Related]

  • 9. A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia.
    Ruzzi L, Gagnoux-Palacios L, Pinola M, Belli S, Meneguzzi G, D'Alessio M, Zambruno G.
    J Clin Invest; 1997 Jun 15; 99(12):2826-31. PubMed ID: 9185503
    [Abstract] [Full Text] [Related]

  • 10. Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia.
    Nazzaro V, Nicolini U, De Luca L, Berti E, Caputo R.
    J Med Genet; 1990 Apr 15; 27(4):244-8. PubMed ID: 2182874
    [Abstract] [Full Text] [Related]

  • 11. Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: the diagnostic role of prenatal ultrasonography.
    Achiron R, Hamiel-Pinchas O, Engelberg S, Barkai G, Reichman B, Mashiach S.
    Prenat Diagn; 1992 Sep 15; 12(9):765-71. PubMed ID: 1279662
    [Abstract] [Full Text] [Related]

  • 12. Prenatal exclusion of pyloric atresia-junctional epidermolysis bullosa syndrome.
    Shimizu H, Fine JD, Suzumori K, Hatta N, Shozu M, Nishikawa T.
    J Am Acad Dermatol; 1994 Sep 15; 31(3 Pt 1):429-33. PubMed ID: 8077467
    [Abstract] [Full Text] [Related]

  • 13. Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa?
    Lacour JP, Hoffman P, Bastiani-Griffet F, Boutte P, Pisani A, Ortonne JP.
    Eur J Pediatr; 1992 Apr 15; 151(4):252-7. PubMed ID: 1499575
    [Abstract] [Full Text] [Related]

  • 14. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.
    Pulkkinen L, Rouan F, Bruckner-Tuderman L, Wallerstein R, Garzon M, Brown T, Smith L, Carter W, Uitto J.
    Am J Hum Genet; 1998 Nov 15; 63(5):1376-87. PubMed ID: 9792864
    [Abstract] [Full Text] [Related]

  • 15. Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin.
    Takizawa Y, Shimizu H, Nishikawa T, Hatta N, Pulkkinen L, Uitto J.
    J Invest Dermatol; 1997 Jun 15; 108(6):943-6. PubMed ID: 9182827
    [Abstract] [Full Text] [Related]

  • 16. Alpha-fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant.
    Shulman LP, Elias S, Andersen RN, Phillips OP, Milunsky A, Holbrook KA, Smith LT, Fine JD, Simpson JL.
    Prenat Diagn; 1991 Nov 15; 11(11):813-8. PubMed ID: 1721712
    [Abstract] [Full Text] [Related]

  • 17. Prenatal ultrasound findings and a new ultrasonographic sign of epidermolysis bullosa with congenital pyloric atresia: a report of three cases.
    Dural O, Acar DK, Ekiz A, Aslan H, Polat İ, Yildirim G, Gulac B, Erdemoglu Y, Cay A, Hacıhasanoglu O.
    J Med Ultrason (2001); 2014 Oct 15; 41(4):495-8. PubMed ID: 27278032
    [Abstract] [Full Text] [Related]

  • 18. Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4).
    Masunaga T, Ishiko A, Takizawa Y, Kim SC, Lee JS, Nishikawa T, Shimizu H.
    Exp Dermatol; 2004 Jan 15; 13(1):61-4. PubMed ID: 15009117
    [Abstract] [Full Text] [Related]

  • 19. Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia.
    Pulkkinen L, Kurtz K, Xu Y, Bruckner-Tuderman L, Uitto J.
    Lab Invest; 1997 Jun 15; 76(6):823-33. PubMed ID: 9194858
    [Abstract] [Full Text] [Related]

  • 20. Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
    Ashton GH, Sorelli P, Mellerio JE, Keane FM, Eady RA, McGrath JA.
    Br J Dermatol; 2001 Feb 15; 144(2):408-14. PubMed ID: 11251584
    [Abstract] [Full Text] [Related]

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