156 related articles for article (PubMed ID: 34138484)
1. New compound heterozygous SPINK5 mutations in a Chinese infant with Netherton syndrome.
Wang Q; Qiu F; Wu H; Fan YM
J Eur Acad Dermatol Venereol; 2021 Nov; 35(11):e782-e784. PubMed ID: 34138484
[No Abstract] [Full Text] [Related]
2. Netherton syndrome: A neonatal case with respiratory insufficiency.
Okulu E; Tunc G; Erdeve O; Mumcu Y; Atasay B; Ince E; Arsan S
Arch Argent Pediatr; 2018 Aug; 116(4):e609-e611. PubMed ID: 30016041
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.
Numata S; Teye K; Krol RP; Okamatsu Y; Hashikawa K; Matsuda M; Fortugno P; Di Zenzo G; Castiglia D; Zambruno G; Hamada T; Hashimoto T
Exp Dermatol; 2016 Jul; 25(7):568-70. PubMed ID: 26997095
[No Abstract] [Full Text] [Related]
5. 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]
6. A novel SPINK5 mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome.
Zelieskova M; Banovcin P; Kozar M; Kozarova A; Nudzajova Z; Jesenak M
Pediatr Dermatol; 2020 Nov; 37(6):1202-1204. PubMed ID: 32767583
[TBL] [Abstract][Full Text] [Related]
7. SPINK5 mutation and FLG gene deletion in an infant with Netherton syndrome.
Hacıhamdioğlu DÖ; Altan Ferhatoğlu Z; Karkucak M; Fişek İzci NM; Yakut T
Pediatr Int; 2022 Jan; 64(1):e15087. PubMed ID: 35438212
[No Abstract] [Full Text] [Related]
8. 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]
9. A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course.
Nevet MJ; Indelman M; Ben-Ari J; Bergman R
Int J Dermatol; 2017 Oct; 56(10):1055-1057. PubMed ID: 28832989
[No Abstract] [Full Text] [Related]
10. 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]
11. Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant.
Schepis C; Siragusa M; Centofanti A; Vinci M; Calì F
Dermatol Online J; 2019 Jul; 25(7):. PubMed ID: 31450277
[TBL] [Abstract][Full Text] [Related]
12. A case of Netherton syndrome with mutation in SPINK5 and FLG.
Shi ZR; Xu M; Tan GZ; Wang L; Guo Q; Tang ZQ
Eur J Dermatol; 2017 Oct; 27(5):536-537. PubMed ID: 28943498
[No Abstract] [Full Text] [Related]
13. Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy.
Schepis C; Failla P; Siragusa M; Vinci M; Calì F
G Ital Dermatol Venereol; 2020 Apr; 155(2):239-240. PubMed ID: 29781262
[No Abstract] [Full Text] [Related]
14. Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large-sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin.
Zhang Z; Pan C; Wei R; Li H; Yang Y; Chen J; Li M; Yao Z
Mol Genet Genomic Med; 2021 Mar; 9(3):e1600. PubMed ID: 33452875
[TBL] [Abstract][Full Text] [Related]
15. Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C.
Özyurt K; Atasoy M; Ertaş R; Ulaş Y; Akkuş MR; Kiraz A; Hennies HC
Turk J Pediatr; 2019; 61(4):604-607. PubMed ID: 31990481
[TBL] [Abstract][Full Text] [Related]
16. Novel splice site mutation at the C-terminal of SPINK5 cause a unique Netherton syndrome phenotype mimicking pustular psoriasis.
Hua S; Liu J; Fang B; Qian Q; Zhang J
J Eur Acad Dermatol Venereol; 2023 Jan; 37(1):e113-e115. PubMed ID: 36165187
[No Abstract] [Full Text] [Related]
17. Establishment of an induced pluripotent stem cell line (SAHGMUi001-A) from a patient with Netherton syndrome carrying SPINK5 mutation.
Xu M; Wang L; Yin J; Xiong J; Guo Q; Yang W
Stem Cell Res; 2021 Mar; 51():102213. PubMed ID: 33556917
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Establishment of a mouse model of Netherton syndrome based on CRISPR/Cas9 technology.
Guo JZ; Su J; Dai H; Wang XY; Wu WB; Chen T; Zhang J; Wang WH
Eur J Dermatol; 2022 Jul; 32(4):459-463. PubMed ID: 36301754
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
