Detalhe da pesquisa
1.
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Am J Hum Genet
; 94(1): 135-43, 2014 Jan 02.
Artigo
Inglês
| MEDLINE | ID: mdl-24387993
2.
Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.
Exp Dermatol
; 26(6): 536-541, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27306922
3.
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
PLoS Genet
; 8(5): e1002746, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22693459
4.
Protective effects of ß-carotene and melanin against protoporphyrine IX-induced phototoxicity in the photo hen's egg test.
Photodermatol Photoimmunol Photomed
; 28(1): 12-6, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22211998
5.
Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26.
Am J Hum Genet
; 82(3): 737-43, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18304493
6.
Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report.
J Am Acad Dermatol
; 64(4): e45-50, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20659777
7.
The prognostic value of cord blood analysis in erythropoietic protoporphyria: the 'Duesseldorf Cord Blood Study'.
Photodermatol Photoimmunol Photomed
; 26(1): 7-9, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-20070832
8.
Fixed solar urticaria with delayed onset.
J Am Acad Dermatol
; 60(4): 695-7, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19293018
9.
Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.
J Invest Dermatol
; 144(1): 181-184, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37468035
10.
Identification of a keratin-associated protein with a putative role in vesicle transport.
Eur J Cell Biol
; 86(11-12): 827-39, 2007 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17397964
11.
Familial aggregation of alopecia areata.
J Am Acad Dermatol
; 54(4): 627-32, 2006 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-16546583
12.
Investigation of the HLA-DRB1 locus in alopecia areata.
Eur J Dermatol
; 16(4): 363-7, 2006.
Artigo
Inglês
| MEDLINE | ID: mdl-16935791
13.
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family.
Indian J Dermatol
; 59(5): 476-80, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25284854
14.
Investigation of four novel male androgenetic alopecia susceptibility loci: no association with female pattern hair loss.
Arch Dermatol Res
; 306(4): 413-8, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24352509
15.
Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss.
Arch Dermatol Res
; 305(3): 249-53, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23124548
16.
Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance.
J Invest Dermatol
; 132(9): 2192-7, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22534877
17.
Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata.
Eur J Hum Genet
; 20(3): 326-32, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-22027810
18.
Thelalgia in man: successful treatment with botulinum toxin.
Arch Dermatol
; 142(9): 1242-3, 2006 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16983025
19.
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
J Invest Dermatol
; 135(2): 615-618, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25229252
20.
Immunochip-based analysis: high-density genotyping of immune-related loci sheds further light on the autoimmune genetic architecture of alopecia areata.
J Invest Dermatol
; 135(3): 919-921, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25337690