BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

196 related articles for article (PubMed ID: 34888090)

  • 1. 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]  

  • 2. 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]  

  • 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. 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]  

  • 5. 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]  

  • 6. Successful treatment of Netherton syndrome with dupilumab: A case report and review of the literature.
    Wang J; Yu L; Zhang S; Wang C; Li Z; Li M; Zhang S
    J Dermatol; 2022 Jan; 49(1):165-167. PubMed ID: 34862657
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 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. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Desquamating Rash in a Patient with Undiagnosed Netherton Syndrome.
    De Niear MA; Gigante J
    J Pediatr; 2018 Jan; 192():262-262.e1. PubMed ID: 29106927
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.