Detalhe da pesquisa
1.
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.
Hum Mol Genet
; 32(7): 1223-1235, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36440963
2.
Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes.
Exp Dermatol
; 33(3): e15046, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38509711
3.
Navigating the diagnostic journey of epidermolysis bullosa - a qualitative study on the lived experiences and needs of parents and patients.
Br J Dermatol
; 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38860499
4.
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1.
Am J Med Genet A
; 191(3): 896-898, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36541401
5.
Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.
Am J Med Genet A
; 191(9): 2440-2445, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37294112
6.
Heterogeneity of reported outcomes in epidermolysis bullosa clinical research: a scoping review as a first step towards outcome harmonization.
Br J Dermatol
; 189(1): 80-90, 2023 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37098154
7.
A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Br J Dermatol
; 187(6): 1045-1048, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35975634
8.
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.
J Med Genet
; 58(4): 264-269, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32482799
9.
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
Int J Mol Sci
; 22(22)2021 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34830104
10.
Hyperkeratotic hand eczema: Eczema or not?
Contact Dermatitis
; 83(3): 196-205, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333380
11.
Recommendations on single-cell RNA sequencing of skin xenografts in the study of genetic skin diseases.
Exp Dermatol
; 33(2): e15036, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38389155
12.
Murine type VII collagen distorts outcome in human skin graft mouse model for dystrophic epidermolysis bullosa.
Exp Dermatol
; 28(10): 1153-1155, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30019435
13.
Harmonization of outcomes in epidermolysis bullosa: report of the Core Outcome Sets for Epidermolysis Bullosa (COSEB) kick-off meeting.
Br J Dermatol
; 190(2): 268-270, 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37792735
14.
Towards a roadmap for COSEB: the next steps in harmonization of outcomes for epidermolysis bullosa.
Br J Dermatol
; 2024 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38865426
15.
Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene.
J Eur Acad Dermatol Venereol
; 37(4): e486-e490, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36308042
16.
RNA-based therapies for genodermatoses.
Exp Dermatol
; 26(1): 3-10, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27376675
17.
The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: analysis of clinical outcomes and tumour characteristics in the Dutch EB Registry.
Br J Dermatol
; 187(5): 824-826, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830206
18.
Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy.
Mol Ther
; 24(7): 1302-11, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27157667
19.
Collodion babies: A 15-year retrospective multicenter study in The Netherlands-Evaluation of severity scores to predict the underlying disease.
J Am Acad Dermatol
; 84(4): 1111-1113, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32534952
20.
Diagnostisches Next Generation Sequencing bei neonataler Erythrodermie.
J Dtsch Dermatol Ges
; 19(4): 611-614, 2021 Apr.
Artigo
em Alemão
| MEDLINE | ID: mdl-33861020