285 related articles for article (PubMed ID: 26865388)
1. Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.
Hannula-Jouppi K; Laasanen SL; Ilander M; Furio L; Tuomiranta M; Marttila R; Jeskanen L; Häyry V; Kanerva M; Kivirikko S; Tuomi ML; Heikkilä H; Mustjoki S; Hovnanian A; Ranki A
JAMA Dermatol; 2016 Apr; 152(4):435-42. PubMed ID: 26865388
[TBL] [Abstract][Full Text] [Related]
2. Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.
Lacroix M; Lacaze-Buzy L; Furio L; Tron E; Valari M; Van der Wier G; Bodemer C; Bygum A; Bursztejn AC; Gaitanis G; Paradisi M; Stratigos A; Weibel L; Deraison C; Hovnanian A
J Invest Dermatol; 2012 Mar; 132(3 Pt 1):575-82. PubMed ID: 22089833
[TBL] [Abstract][Full Text] [Related]
3. A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins.
Di WL; Hennekam RC; Callard RE; Harper JI
Br J Dermatol; 2009 Aug; 161(2):404-12. PubMed ID: 19438860
[TBL] [Abstract][Full Text] [Related]
4. Comèl-Netherton syndrome defined as primary immunodeficiency.
Renner ED; Hartl D; Rylaarsdam S; Young ML; Monaco-Shawver L; Kleiner G; Markert ML; Stiehm ER; Belohradsky BH; Upton MP; Torgerson TR; Orange JS; Ochs HD
J Allergy Clin Immunol; 2009 Sep; 124(3):536-43. PubMed ID: 19683336
[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. 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]
7. Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients.
Komatsu N; Saijoh K; Jayakumar A; Clayman GL; Tohyama M; Suga Y; Mizuno Y; Tsukamoto K; Taniuchi K; Takehara K; Diamandis EP
J Invest Dermatol; 2008 May; 128(5):1148-59. PubMed ID: 17989726
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.
Fortugno P; Grosso F; Zambruno G; Pastore S; Faletra F; Castiglia D
J Hum Genet; 2012 May; 57(5):311-5. PubMed ID: 22377713
[TBL] [Abstract][Full Text] [Related]
10. Immune cell phenotype and functional defects in Netherton syndrome.
Eränkö E; Ilander M; Tuomiranta M; Mäkitie A; Lassila T; Kreutzman A; Klemetti P; Mustjoki S; Hannula-Jouppi K; Ranki A
Orphanet J Rare Dis; 2018 Nov; 13(1):213. PubMed ID: 30477583
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.
Fong K; Akdeniz S; Isi H; Taskesen M; McGrath JA; Lai-Cheong JE
Clin Exp Dermatol; 2011 Jun; 36(4):412-5. PubMed ID: 21564178
[TBL] [Abstract][Full Text] [Related]
13. Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in
Moltrasio C; Romagnuolo M; Riva D; Colavito D; Ferrucci SM; Marzano AV; Tadini G; Brena M
Genes (Basel); 2023 May; 14(5):. PubMed ID: 37239440
[TBL] [Abstract][Full Text] [Related]
14. Netherton Syndrome: A Genotype-Phenotype Review.
Sarri CA; Roussaki-Schulze A; Vasilopoulos Y; Zafiriou E; Patsatsi A; Stamatis C; Gidarokosta P; Sotiriadis D; Sarafidou T; Mamuris Z
Mol Diagn Ther; 2017 Apr; 21(2):137-152. PubMed ID: 27905021
[TBL] [Abstract][Full Text] [Related]
15. A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D; Borg I; Vornweg J; Mercieca L; Merdzanic R; Numrich J; Aquilina S; Pace NP; Fischer J
Mol Genet Genomic Med; 2021 Mar; 9(3):e1611. PubMed ID: 33534181
[TBL] [Abstract][Full Text] [Related]
16. rAAV2-mediated restoration of LEKTI in LEKTI-deficient cells from Netherton patients.
Roedl D; Oji V; Buters JT; Behrendt H; Braun-Falco M
J Dermatol Sci; 2011 Mar; 61(3):194-8. PubMed ID: 21251800
[TBL] [Abstract][Full Text] [Related]
17. Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome.
Konishi T; Tsuda T; Sakaguchi Y; Imai Y; Ito T; Hirota S; Yamanishi K
J Dermatol; 2014 Mar; 41(3):258-61. PubMed ID: 24506793
[TBL] [Abstract][Full Text] [Related]
18. Netherton syndrome associated with growth hormone deficiency.
Aydın BK; Baş F; Tamay Z; Kılıç G; Süleyman A; Bundak R; Saka N; Özkaya E; Güler N; Darendeliler F
Pediatr Dermatol; 2014; 31(1):90-4. PubMed ID: 24015757
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient.
Hamza N; Al Sukaiti N; Ahmed KAM; Romano R; Gokhale UA; Pan-Hammarström Q
Sultan Qaboos Univ Med J; 2021 Nov; 21(4):652-656. PubMed ID: 34888090
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
