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284 related items for PubMed ID: 16291148

  • 1. 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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  • 2. 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 Nov; 25(3):368-72. PubMed ID: 18577046
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  • 3. 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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  • 4. Netherton syndrome associated with idiopathic congenital hemihypertrophy.
    Yerebakan O, Uğuz A, Keser I, Lüleci G, Ciftçioğlu MA, Başaran E, Alpsoy E.
    Pediatr Dermatol; 2002 Sep; 19(4):345-8. PubMed ID: 12220283
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  • 5. Netherton syndrome: a case report and review of the literature.
    Sun JD, Linden KG.
    Int J Dermatol; 2006 Jun; 45(6):693-7. PubMed ID: 16796630
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  • 6. A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome.
    Mizuno Y, Suga Y, Haruna K, Muramatsu S, Hasegawa T, Kohroh K, Shimizu T, Komatsu N, Ogawa H, Ikeda S.
    Clin Exp Dermatol; 2006 Sep; 31(5):677-80. PubMed ID: 16901309
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  • 8. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
    Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G.
    J Invest Dermatol; 2001 Aug; 117(2):179-87. PubMed ID: 11511292
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  • 9. 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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  • 11. Hair shaft videodermoscopy in netherton syndrome.
    Rakowska A, Kowalska-Oledzka E, Slowinska M, Rosinska D, Rudnicka L.
    Pediatr Dermatol; 2009 Dec; 26(3):320-2. PubMed ID: 19706096
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  • 16. [Development of cancer (vulvar cancer) in the Netherton syndrome (ichthyosis, hair anomalies, atopic diathesis)].
    Kübler HC, Kühn W, Rummel HH, Kaufmann I, Kaufmann M.
    Geburtshilfe Frauenheilkd; 1987 Oct; 47(10):742-4. PubMed ID: 3678791
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  • 17. Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.
    Geyer AS, Ratajczak P, Pol-Rodriguez M, Millar WS, Garzon M, Richard G.
    Dermatology; 2005 Oct; 210(4):308-14. PubMed ID: 15942217
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  • 18. Netherton's syndrome: the importance of eyebrow hair.
    Boussofara L, Ghannouchi N, Ghariani N, Denguezli M, Belajouza C, Nouira R.
    Dermatol Online J; 2007 Jul 13; 13(3):21. PubMed ID: 18328215
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  • 19. A new SPINK5 mutation in a patient with Netherton syndrome: a case report.
    Alpigiani MG, Salvati P, Schiaffino MC, Occella C, Castiglia D, Covaciu C, Lorini R.
    Pediatr Dermatol; 2012 Jul 13; 29(4):521-2. PubMed ID: 21692842
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  • 20. Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.
    Moltrasio C, Romagnuolo M, Riva D, Colavito D, Ferrucci SM, Marzano AV, Tadini G, Brena M.
    Genes (Basel); 2023 May 14; 14(5):. PubMed ID: 37239440
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