239 related articles for article (PubMed ID: 12923596)
1. 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]
2. 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]
3. 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]
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: 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]
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. 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]
8. Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum.
Ng E; Hale CS; Meehan SA; Cohen DE
Dermatol Online J; 2014 Dec; 20(12):. PubMed ID: 25526335
[TBL] [Abstract][Full Text] [Related]
9. Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTI.
Xi-Bao Z; San-Quan Z; Yu-Qing H; Yu-Wu L; Quan L; Chang-Xing L
Indian J Dermatol; 2012 Jul; 57(4):265-8. PubMed ID: 22837558
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. [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]
14. 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]
15. 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]
16. A novel mutation in
Wang Y; Song H; Yu L; Wu N; Zheng X; Liang B; Wang P
Front Genet; 2022; 13():943264. PubMed ID: 36159989
[TBL] [Abstract][Full Text] [Related]
17. The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition.
Jain SP; Jain PA; Pandey N
J Clin Diagn Res; 2016 Apr; 10(4):WD01-2. PubMed ID: 27190931
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Netherton Syndrome in a Mother and Her Two Children.
DeMoss J; Cooper L; Felts C; Wittenberg G
S D Med; 2022 Dec; 75(12):554-556. PubMed ID: 36893349
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
