BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

304 related articles for article (PubMed ID: 11693786)

  • 1. 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; 12(3):237-43. PubMed ID: 11693786
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5.
    Chao SC; Richard G; Lee JY
    Br J Dermatol; 2005 Jan; 152(1):159-65. PubMed ID: 15656819
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Severe hypernatremic dehydration disclosing Netherton syndrome in the neonatal period].
    Giroux JD; Sizun J; Gardach C; Awad H; Guillois B; Alix D
    Arch Fr Pediatr; 1993; 50(7):585-8. PubMed ID: 8002723
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 25(3):368-72. PubMed ID: 18577046
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: differentiation from other infantile erythrodermas and pathogenic implications.
    Fartasch M; Williams ML; Elias PM
    Arch Dermatol; 1999 Jul; 135(7):823-32. PubMed ID: 10411158
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets. Report of 3 cases].
    André E; Till M; Descargues P; Cordier MP; Fouilhoux A; Haftek M; Hovnanian A; Lachaux A
    Arch Pediatr; 2005 Sep; 12(9):1364-7. PubMed ID: 15935629
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 210(4):308-14. PubMed ID: 15942217
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
    Chavanas S; Bodemer C; Rochat A; Hamel-Teillac D; Ali M; Irvine AD; Bonafé JL; Wilkinson J; Taïeb A; Barrandon Y; Harper JI; de Prost Y; Hovnanian A
    Nat Genet; 2000 Jun; 25(2):141-2. PubMed ID: 10835624
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome.
    Hausser I; Anton-Lamprecht I
    Pediatr Dermatol; 1996; 13(3):183-99. PubMed ID: 8806118
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome.
    Zhao Y; Ma ZH; Yang Y; Yang SX; Wu LS; Ding BL; Lin ZM; Wang AP; Bu DF; Tu P
    Clin Exp Dermatol; 2007 Sep; 32(5):564-7. PubMed ID: 17608759
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing.
    Müller FB; Hausser I; Berg D; Casper C; Maiwald R; Jung A; Jung H; Korge BP
    Br J Dermatol; 2002 Mar; 146(3):495-9. PubMed ID: 11952552
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.