Detalhe da pesquisa
1.
Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.
J Am Acad Dermatol
; 83(2): 447-454, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31786163
2.
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Am J Hum Genet
; 95(3): 308-14, 2014 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25152456
3.
Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects.
J Neurosci
; 29(15): 4736-49, 2009 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19369543
4.
Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
JCI Insight
; 4(11)2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31167965
5.
Incidence of thin basement membrane nephropathy in 990 consecutive renal biopsies examined with electron microscopy.
Ultrastruct Pathol
; 32(6): 221-6, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19117263
6.
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
Matrix Biol
; 66: 22-33, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29138120
7.
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
J Invest Dermatol
; 134(10): 2570-2578, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24691054
8.
Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.
J Dermatol Sci
; 89(2): 198-201, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29229434
9.
Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.
J Invest Dermatol
; 137(6): 1378-1380, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28111128