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Journal Abstract Search

534 related items for PubMed ID: 15347338

  • 1. Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.
    Sprecher E, Tesfaye-Kedjela A, Ratajczak P, Bergman R, Richard G.
    Clin Exp Dermatol; 2004 Sep; 29(5):513-7. PubMed ID: 15347338
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  • 3. LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome.
    Ong C, O'Toole EA, Ghali L, Malone M, Smith VV, Callard R, Harper JI.
    Br J Dermatol; 2004 Dec; 151(6):1253-7. PubMed ID: 15606522
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  • 5. Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.
    Shimomura Y, Sato N, Kariya N, Takatsuka S, Ito M.
    Br J Dermatol; 2005 Nov; 153(5):1026-30. PubMed ID: 16225619
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  • 7. Netherton syndrome: mutation analysis of two Taiwanese families.
    Lin SP, Huang SY, Tu ME, Wu YH, Lin CY, Lin HY, Lee-Chen GJ.
    Arch Dermatol Res; 2007 Jun; 299(3):145-50. PubMed ID: 17415575
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  • 8. An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation.
    Macknet CA, Morkos A, Job L, Garberoglio MC, Clark RD, Macknet KD, Peverini RL.
    Pediatr Dermatol; 2008 Jun; 25(3):368-72. PubMed ID: 18577046
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  • 9. Severe hypernatremic dehydration in an infant with Netherton syndrome.
    Stoll C, Alembik Y, Tchomakov D, Messer J, Heid E, Boehm N, Calvas P, Hovnanian A.
    Genet Couns; 2001 Jun; 12(3):237-43. PubMed ID: 11693786
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  • 11. A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.
    Chao SC, Tsai YM, Lee JY.
    J Formos Med Assoc; 2003 Jun; 102(6):418-23. PubMed ID: 12923596
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  • 12. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
    Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, Hamel-Teillac D, Ansai S, Mitsuhashi Y, Taïeb A, de Prost Y, Zambruno G, Harper JI, Hovnanian A.
    J Invest Dermatol; 2002 Feb; 118(2):352-61. PubMed ID: 11841556
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  • 13. Acute pancreatitis in a young girl with the Netherton syndrome.
    Söreide K, Söiland H, Körner H, Haga H, Söreide JA.
    J Pediatr Surg; 2005 Nov; 40(11):e69-72. PubMed ID: 16291148
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  • 16. SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases.
    Raghunath M, Tontsidou L, Oji V, Aufenvenne K, Schürmeyer-Horst F, Jayakumar A, Ständer H, Smolle J, Clayman GL, Traupe H.
    J Invest Dermatol; 2004 Sep; 123(3):474-83. PubMed ID: 15304086
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  • 19. What syndrome is this? Netherton syndrome.
    Krafchik BR.
    Pediatr Dermatol; 1992 Jun; 9(2):157-60. PubMed ID: 1534889
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