126 related articles for article (PubMed ID: 36757906)
1. A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex.
Banner L; Cohen A; McGrath L; Nikbakht N; South AP
Clin Exp Dermatol; 2023 Mar; 48(4):431-433. PubMed ID: 36757906
[No Abstract] [Full Text] [Related]
2. Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review.
Diociaiuti A; Castiglia D; Naim M; Condorelli AG; Zambruno G; El Hachem M
J Eur Acad Dermatol Venereol; 2018 Apr; 32(4):e149-e151. PubMed ID: 29024068
[No Abstract] [Full Text] [Related]
3. Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex.
Ołdak M; Przybylska D; Kosińska J; Federowicz A; Woźniak K; Płoski R; Kowalewski C
Eur J Dermatol; 2013; 23(3):404-6. PubMed ID: 23774754
[No Abstract] [Full Text] [Related]
4. Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.
Kim E; Harris A; Hyland V; Murrell DF
Br J Dermatol; 2017 Jul; 177(1):262-264. PubMed ID: 27611893
[No Abstract] [Full Text] [Related]
5. Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.
Wertheim-Tysarowska K; Sota J; Kutkowska-Kaźmierczak A; Woźniak K; Bal J; Kowalewski C
Br J Dermatol; 2014 Feb; 170(2):468-9. PubMed ID: 24024749
[No Abstract] [Full Text] [Related]
6. Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex.
Yu Y; Mi Z; Fu X; Wang Z; Sun L; Liu H; Zhang F
Australas J Dermatol; 2020 May; 61(2):e267-e269. PubMed ID: 31919841
[No Abstract] [Full Text] [Related]
7. A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex.
Flohil SC; Bolling MC; Kooi KA; Lemmink HH; Jonkman MF
Eur J Dermatol; 2010; 20(1):27-9. PubMed ID: 19797037
[TBL] [Abstract][Full Text] [Related]
8. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
Arin MJ; Grimberg G; Schumann H; De Almeida H; Chang YR; Tadini G; Kohlhase J; Krieg T; Bruckner-Tuderman L; Has C
Br J Dermatol; 2010 Jun; 162(6):1365-9. PubMed ID: 20199538
[TBL] [Abstract][Full Text] [Related]
9. Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
García M; Santiago JL; Terrón A; Hernández-Martín A; Vicente A; Fortuny C; De Lucas R; López JC; Cuadrado-Corrales N; Holguín A; Illera N; Duarte B; Sánchez-Jimeno C; Llames S; García E; Ayuso C; Martínez-Santamaría L; Castiglia D; De Luca N; Torrelo A; Mechan D; Baty D; Zambruno G; Escámez MJ; Del Río M
Br J Dermatol; 2011 Sep; 165(3):683-92. PubMed ID: 21623745
[TBL] [Abstract][Full Text] [Related]
10. Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype.
Jankowski M; Wertheim-Tysarowska K; Jakubowski R; Sota J; Nowak W; Czajkowski R
Exp Dermatol; 2014 Sep; 23(9):684-7. PubMed ID: 24981776
[TBL] [Abstract][Full Text] [Related]
11. A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia.
Kim EN; Harris AG; Bingham LJ; Yan W; Su JC; Murrell DF
Acta Derm Venereol; 2017 Oct; 97(9):1114-1119. PubMed ID: 28561874
[TBL] [Abstract][Full Text] [Related]
12. Large intragenic deletion of KRT14 causes autosomal-dominant epidermolysis bullosa simplex with generalized hyperpigmentation.
Gong Z; Zou X; Xue R; Zhu X; Jiang X
J Dermatol Sci; 2023 Apr; 110(1):27-30. PubMed ID: 36990856
[No Abstract] [Full Text] [Related]
13. A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex.
Indelman M; Bergman R; Sprecher E
J Invest Dermatol; 2005 Jan; 124(1):272-4. PubMed ID: 15654986
[No Abstract] [Full Text] [Related]
14. KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.
Vahidnezhad H; Youssefian L; Saeidian AH; Mozafari N; Barzegar M; Sotoudeh S; Daneshpazhooh M; Isaian A; Zeinali S; Uitto J
J Invest Dermatol; 2016 Sep; 136(9):1897-1901. PubMed ID: 27283507
[No Abstract] [Full Text] [Related]
15. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.
Bolling MC; Lemmink HH; Jansen GH; Jonkman MF
Br J Dermatol; 2011 Mar; 164(3):637-44. PubMed ID: 21375516
[TBL] [Abstract][Full Text] [Related]
16. [Study of a family with epidermolysis bullosa simplex resulting from a novel mutation of KRT14 gene].
Meng L; Du J; Li W; Lu G; Tan Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Aug; 34(4):504-508. PubMed ID: 28777847
[TBL] [Abstract][Full Text] [Related]
17. Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
Wertheim-Tysarowska K; Ołdak M; Giza A; Kutkowska-Kaźmierczak A; Sota J; Przybylska D; Woźniak K; Śniegórska D; Niepokój K; Sobczyńska-Tomaszewska A; Rygiel AM; Płoski R; Bal J; Kowalewski C
J Appl Genet; 2016 May; 57(2):175-81. PubMed ID: 26432462
[TBL] [Abstract][Full Text] [Related]
18. Epidermolysis bullosa simplex with mottled pigmentation: a novel KRT14 mutation.
Gray C; Greenlaw SM; Alavian C; Wiss K
J Drugs Dermatol; 2011 Aug; 10(8):926-7. PubMed ID: 21818518
[No Abstract] [Full Text] [Related]
19. Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.
Bchetnia M; Allard JP; Boucher-Lafleur AM; Cruz Marino T; Dupéré A; Powell J; McCuaig C; Bernier MÈ; Laprise C
Exp Dermatol; 2020 Oct; 29(10):961-969. PubMed ID: 32885477
[TBL] [Abstract][Full Text] [Related]
20. Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.
Ołdak M; Kowalewski C; Maksym RB; Woźniak K; Pollak A; Podgórska M; Wnorowski A; Kosińska J; Płoski R
J Dermatol Sci; 2010 Jan; 57(1):69-70. PubMed ID: 19854623
[No Abstract] [Full Text] [Related]
[Next] [New Search]