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]