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    Results: 1 to 20 of 37

    1.

    First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.

    Ozge A, Safak H, Ebru H, Evrim U, Bilge SE, Leyla O, Kemal KA, Volkan B.

    J Assist Reprod Genet. 2012 Apr;29(4):347-52. doi: 10.1007/s10815-012-9728-8. Epub 2012 Feb 22. No abstract available.

    PMID:
    22354727
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    2.

    Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene.

    Stoevesandt J, Borozdin W, Girschick G, Hamm H, Höcht B, Kohlhase J, Volz A, Wiewrodt B, Wirbelauer J.

    Klin Padiatr. 2012 Jan;224(1):8-11. doi: 10.1055/s-0031-1285877. Epub 2011 Sep 26.

    PMID:
    21969027
    [PubMed - indexed for MEDLINE]
    3.

    DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.

    Nakamura H, Natsuga K, Nishie W, McMillan JR, Nakamura H, Sawamura D, Akiyama M, Shimizu H.

    Int J Dermatol. 2011 Apr;50(4):439-42. doi: 10.1111/j.1365-4632.2010.04771.x.

    PMID:
    21413955
    [PubMed - indexed for MEDLINE]
    4.

    Myasthenic syndrome caused by plectinopathy.

    Selcen D, Juel VC, Hobson-Webb LD, Smith EC, Stickler DE, Bite AV, Ohno K, Engel AG.

    Neurology. 2011 Jan 25;76(4):327-36. doi: 10.1212/WNL.0b013e31820882bd.

    PMID:
    21263134
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    5.

    Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.

    Maselli RA, Arredondo J, Cagney O, Mozaffar T, Skinner S, Yousif S, Davis RR, Gregg JP, Sivak M, Konia TH, Thomas K, Wollmann RL.

    Clin Genet. 2011 Nov;80(5):444-51. doi: 10.1111/j.1399-0004.2010.01602.x. Epub 2010 Dec 22.

    PMID:
    21175599
    [PubMed - indexed for MEDLINE]
    6.

    A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing.

    Natsuga K, Nishie W, Shinkuma S, Nakamura H, Arita K, Yoneda K, Kusaka T, Yanagihara T, Kosaki R, Sago H, Akiyama M, Shimizu H.

    Exp Dermatol. 2011 Jan;20(1):74-6. doi: 10.1111/j.1600-0625.2010.01177.x. Epub 2010 Oct 18.

    PMID:
    20955205
    [PubMed - indexed for MEDLINE]
    7.

    Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator.

    Frew JW, Dopping-Hepenstal PJ, McGrath JA.

    Australas J Dermatol. 2010 Aug;51(3):212-4. doi: 10.1111/j.1440-0960.2010.00666.x.

    PMID:
    20695865
    [PubMed - indexed for MEDLINE]
    8.

    Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.

    Natsuga K, Nishie W, Shinkuma S, Arita K, Nakamura H, Ohyama M, Osaka H, Kambara T, Hirako Y, Shimizu H.

    Hum Mutat. 2010 Oct;31(10):E1687-98. doi: 10.1002/humu.21330.

    PMID:
    20665883
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia.

    Natsuga K, Nishie W, Arita K, Shinkuma S, Nakamura H, Kubota S, Imakado S, Akiyama M, Shimizu H.

    J Invest Dermatol. 2010 Nov;130(11):2671-4. doi: 10.1038/jid.2010.182. Epub 2010 Jul 1. No abstract available.

    PMID:
    20596088
    [PubMed - indexed for MEDLINE]
    Free Article
    10.

    Epidermolysis bullosa simplex with muscular dystrophy.

    Chiavérini C, Charlesworth A, Meneguzzi G, Lacour JP, Ortonne JP.

    Dermatol Clin. 2010 Apr;28(2):245-55, viii. doi: 10.1016/j.det.2010.01.001. Review.

    PMID:
    20447487
    [PubMed - indexed for MEDLINE]
    11.

    Visceral bullae: A new finding in Bart's syndrome.

    Akar M, Erdeve O, Gokmen T, Oguz SS, Dilmen U, Sirvan L.

    Fetal Pediatr Pathol. 2010 Jan;29(2):63-8. doi: 10.3109/15513811003614990.

    PMID:
    20334480
    [PubMed - indexed for MEDLINE]
    12.

    Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.

    Natsuga K, Nishie W, Akiyama M, Nakamura H, Shinkuma S, McMillan JR, Nagasaki A, Has C, Ouchi T, Ishiko A, Hirako Y, Owaribe K, Sawamura D, Bruckner-Tuderman L, Shimizu H.

    Hum Mutat. 2010 Mar;31(3):308-16. doi: 10.1002/humu.21189.

    PMID:
    20052759
    [PubMed - indexed for MEDLINE]
    13.

    Epidermolysis bullosa with pyloric atresia.

    Chung HJ, Uitto J.

    Dermatol Clin. 2010 Jan;28(1):43-54. doi: 10.1016/j.det.2009.10.005. Review.

    PMID:
    19945615
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Plectin gene defects lead to various forms of epidermolysis bullosa simplex.

    Rezniczek GA, Walko G, Wiche G.

    Dermatol Clin. 2010 Jan;28(1):33-41. doi: 10.1016/j.det.2009.10.004. Review. Erratum in: Dermatol Clin. 2010 Apr;28(2):439-41.

    PMID:
    19945614
    [PubMed - indexed for MEDLINE]
    15.

    Autosomal dominant junctional epidermolysis bullosa.

    Almaani N, Liu L, Dopping-Hepenstal PJ, Lovell PA, Lai-Cheong JE, Graham RM, Mellerio JE, McGrath JA.

    Br J Dermatol. 2009 May;160(5):1094-7. doi: 10.1111/j.1365-2133.2008.08977.x. Epub 2009 Dec 16.

    PMID:
    19120338
    [PubMed - indexed for MEDLINE]
    16.

    Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation.

    Salvestrini C, McGrath JA, Ozoemena L, Husain K, Buhamrah E, Sabery N, Leichtner A, Rufo PA, Perez-Atayde A, Orteu CH, Torrente F, Heuschkel RB, Thomson MA, Murch SH.

    J Pediatr Gastroenterol Nutr. 2008 Nov;47(5):585-91. doi: 10.1097/MPG.0b013e31817af98d.

    PMID:
    18955862
    [PubMed - indexed for MEDLINE]
    17.

    Pyloric atresia associated with epidermolysis bullosa.

    Sahebpor AA, Ghafari V, Shokohi L.

    Indian Pediatr. 2008 Oct;45(10):849-51.

    PMID:
    18948657
    [PubMed - indexed for MEDLINE]
    Free Article
    18.

    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;88(5):438-48. doi: 10.2340/00015555-0484. Review.

    PMID:
    18779879
    [PubMed - indexed for MEDLINE]
    Free Article
    19.

    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;128(12):2815-9. doi: 10.1038/jid.2008.143. Epub 2008 Jun 19.

    PMID:
    18563182
    [PubMed - indexed for MEDLINE]
    Free Article
    20.

    Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.

    Birnbaum RY, Landau D, Elbedour K, Ofir R, Birk OS, Carmi R.

    Am J Med Genet A. 2008 Apr 15;146A(8):1063-6. doi: 10.1002/ajmg.a.31903. No abstract available.

    PMID:
    18348258
    [PubMed - indexed for MEDLINE]

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