150 related articles for article (PubMed ID: 21255986)
1. [A lethal variant of Netherton syndrome in a large inbred family].
Capri Y; Vanlieferinghen P; Boeuf B; Dechelotte P; Hovnanian A; Lecomte B
Arch Pediatr; 2011 Mar; 18(3):294-8. PubMed ID: 21255986
[TBL] [Abstract][Full Text] [Related]
2. Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.
Diociaiuti A; Castiglia D; Fortugno P; Bartuli A; Pascucci M; Zambruno G; El Hachem M
Pediatr Dermatol; 2013; 30(4):e65-7. PubMed ID: 23331056
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT.
Itoh K; Kako T; Suzuki N; Sakurai N; Sugiyama K; Yamanishi K
J Dermatol; 2015 Dec; 42(12):1212-4. PubMed ID: 26365906
[No 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. 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]
11. 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]
12. Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome.
Israeli S; Sarig O; Garty BZ; Indelman M; Bergman R; Sprecher E; Goldberg I
Dermatology; 2014; 228(2):183-8. PubMed ID: 24577329
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Netherton syndrome and its multifaceted defective protein LEKTI.
D'Alessio M; Fortugno P; Zambruno G; Hovnanian A
G Ital Dermatol Venereol; 2013 Feb; 148(1):37-51. PubMed ID: 23407075
[TBL] [Abstract][Full Text] [Related]
16. Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.
Guerra L; Fortugno P; Pedicelli C; Mazzanti C; Proto V; Zambruno G; Castiglia D
Acta Derm Venereol; 2015 Jul; 95(6):720-4. PubMed ID: 25710899
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.
Bitoun E; Bodemer C; Amiel J; de Prost Y; Stoll C; Calvas P; Hovnanian A
Prenat Diagn; 2002 Feb; 22(2):121-6. PubMed ID: 11857617
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]