BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

240 related articles for article (PubMed ID: 31450277)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. [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]  

  • 7. 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]  

  • 8. Ichthyosis linearis circumflexa with bamboo hair: challenges in the diagnosis and management.
    Dev T; Raman Kumar M; Sethuraman G
    BMJ Case Rep; 2017 May; 2017():. PubMed ID: 28554884
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Hair abnormality in Netherton syndrome observed under polarized light microscopy.
    Utsumi D; Yasuda M; Amano H; Suga Y; Seishima M; Takahashi K
    J Am Acad Dermatol; 2020 Sep; 83(3):847-853. PubMed ID: 32029302
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Successful infliximab treatment in siblings with Netherton syndrome: Unveiling a novel SPINK5 gene variant and literature review.
    Salici NS; Ozcanli A; Rasulova G; Basak AN; Tekgul S; Vural S
    Australas J Dermatol; 2024 May; 65(3):e45-e49. PubMed ID: 38419182
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. ICHTHYOSIS LINEARIS CIRCUMFLEXA: NOT ALWAYS A PART OF NETHERTON SYNDROME.
    Bilgili SG; Karadag AS; Calka O; Onder S; Bayram I
    Genet Couns; 2016; 27(3):353-356. PubMed ID: 30204963
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.
    Nartisa I; Kirsteina R; Neiburga KD; Zigure S; Ozola L; Grantina I; Micule I; Murmane D; Slisere B; Gailite L; Vilne B; Rots D; Taurina G; Kurjane N
    Pediatr Allergy Immunol; 2023 Apr; 34(4):e13937. PubMed ID: 37102386
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.