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
em 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
em Inglês
| MEDLINE | ID: mdl-27306922
3.
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
Am J Hum Genet
; 92(1): 81-7, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23246290
4.
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
Nat Genet
; 34(2): 151-3, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12754508
5.
Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: no association with female pattern hair loss identified.
Exp Dermatol
; 21(5): 390-3, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22509838
6.
Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study.
Acta Derm Venereol
; 97(7): 862-863, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28350042
7.
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
em Inglês
| MEDLINE | ID: mdl-18304493
8.
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
em Inglês
| MEDLINE | ID: mdl-20659777
9.
Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin.
Pediatr Dermatol
; 26(6): 759-61, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-20199465
10.
Richner-Hanhart syndrome detected by expanded newborn screening.
Pediatr Dermatol
; 25(3): 378-80, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18577048
11.
Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata.
J Invest Dermatol
; 138(3): 549-556, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29080678
12.
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
em Inglês
| MEDLINE | ID: mdl-17397964
13.
Familial aggregation of alopecia areata.
J Am Acad Dermatol
; 54(4): 627-32, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16546583
14.
Investigation of the HLA-DRB1 locus in alopecia areata.
Eur J Dermatol
; 16(4): 363-7, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16935791
15.
DNA mismatch repair and the significance of a sebaceous skin tumor for visceral cancer prevention.
Trends Mol Med
; 10(3): 136-41, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15102357
16.
Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.
Nat Commun
; 6: 5966, 2015 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-25608926
17.
Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias.
J Invest Dermatol
; 120(5): 858-64, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12713593
18.
Arylamine N-acetyltransferase type 2 and glutathione S-transferases M1 and T1 polymorphisms in familial adenomatous polyposis.
Pharmacogenetics
; 12(1): 49-54, 2002 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11773864
19.
Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test.
Am J Surg Pathol
; 26(3): 338-43, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11859205
20.
On the anisotropy of skeletal muscle tissue under compression.
Acta Biomater
; 10(7): 3225-34, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24636829