536 related articles for article (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
[TBL] [Abstract][Full Text] [Related]
2. 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]
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
[TBL] [Abstract][Full Text] [Related]
4. 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]
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
[TBL] [Abstract][Full Text] [Related]
6. 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]
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
[TBL] [Abstract][Full Text] [Related]
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; 25(3):368-72. PubMed ID: 18577046
[TBL] [Abstract][Full Text] [Related]
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; 12(3):237-43. PubMed ID: 11693786
[TBL] [Abstract][Full Text] [Related]
10. 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; 29(4):521-2. PubMed ID: 21692842
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
14. [Netherton syndrome].
Serra-Guillén C; Torrelo A; Drake M; Armesto S; Fernández-Llaca H; Zambrano A
Actas Dermosifiliogr; 2006 Jun; 97(5):348-50. PubMed ID: 16956571
[TBL] [Abstract][Full Text] [Related]
15. Congenital erythroderma.
Claus S; Terliesner N; Simon JC; Treudler R
J Dtsch Dermatol Ges; 2016 Apr; 14(4):435-7. PubMed ID: 26972371
[No Abstract] [Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
17. Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides.
Komatsu N; Takata M; Otsuki N; Ohka R; Amano O; Takehara K; Saijoh K
J Invest Dermatol; 2002 Mar; 118(3):436-43. PubMed ID: 11874482
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. What syndrome is this? Netherton syndrome.
Krafchik BR
Pediatr Dermatol; 1992 Jun; 9(2):157-60. PubMed ID: 1534889
[No Abstract] [Full Text] [Related]
20. Guess what! Comèl-Netherton syndrome.
Wilke S; Hoffmann R; Happle R; Freyschmidt-Paul P
Eur J Dermatol; 2001; 11(4):381-2. PubMed ID: 11458927
[No Abstract] [Full Text] [Related]
[Next] [New Search]