Detalhe da pesquisa
1.
UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome.
Hum Mol Genet
; 25(24): 5339-5352, 2016 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798104
2.
Flightless I, a contributing factor to skin blistering in Kindler syndrome patients?
J Cutan Pathol
; 47(2): 186-189, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31614010
3.
Kindlin-1 and -2 have overlapping functions in epithelial cells implications for phenotype modification.
Am J Pathol
; 178(3): 975-82, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21356350
4.
Induction of phenotype modifying cytokines by FERMT1 mutations.
Hum Mutat
; 32(4): 397-406, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21309038
5.
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
Hum Mutat
; 32(11): 1204-12, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21936020
6.
Molecular and diagnostic aspects of genetic skin fragility.
J Dermatol Sci
; 44(3): 129-44, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16996720
7.
Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.
J Clin Invest
; 122(5): 1742-6, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22466645
8.
A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.
J Invest Dermatol
; 135(11): 2876-2879, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26083552
9.
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
J Invest Dermatol
; 130(4): 968-78, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19924139
10.
The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
J Invest Dermatol
; 134(3): 845-849, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24005051
11.
Esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations.
Gastroenterology
; 122(1): 220-5, 2002 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11781296
12.
Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: a case report and review of the literature.
Eur J Pediatr
; 161(12): 672-9, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12447669
13.
[Skin and teeth]. / Haut und Zähne.
J Dtsch Dermatol Ges
; 3(5): 327-8, 2005 May.
Artigo
em Alemão
| MEDLINE | ID: mdl-16372798