Detalhe da pesquisa
1.
Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.
Am J Hum Genet
; 111(5): 896-912, 2024 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38653249
2.
Stress-induced production of chemokines by hair follicles regulates the trafficking of dendritic cells in skin.
Nat Immunol
; 13(8): 744-52, 2012 Jun 24.
Artigo
Inglês
| MEDLINE | ID: mdl-22729248
3.
Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
Exp Dermatol
; 33(4): e15072, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38576105
4.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34815299
5.
Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1.
J Hum Genet
; 67(11): 675-678, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-35970985
6.
Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.
Exp Dermatol
; 31(2): 214-222, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34379845
7.
Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa.
Clin Exp Dermatol
; 47(10): 1895-1897, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-36002914
8.
Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3.
J Hum Genet
; 66(8): 831-834, 2021 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-33580140
9.
Primary localized cutaneous amyloidosis associated with atopic dermatitis treated successfully with nemolizumab.
J Eur Acad Dermatol Venereol
; 2024 Apr 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38634739
10.
A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation.
Pediatr Dermatol
; 36(3): 368-371, 2019 May.
Artigo
Inglês
| MEDLINE | ID: mdl-30864170
11.
Maintenance of tight junction barrier integrity in cell turnover and skin diseases.
Exp Dermatol
; 27(8): 876-883, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30019465
12.
Phakomatosis Pigmentokeratotica.
N Engl J Med
; 381(15): 1458, 2019 10 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31597022
13.
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
Am J Hum Genet
; 93(5): 945-56, 2013 Nov 07.
Artigo
Inglês
| MEDLINE | ID: mdl-24207119
14.
Roles of Wnt Signaling in the Neurogenic Niche of the Adult Mouse Ventricular-Subventricular Zone.
Neurochem Res
; 41(1-2): 222-30, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26572545
15.
Rolled Hairs in Two Cases of Naevus Comedonicus of the Scalp.
Acta Derm Venereol
; 101(9): adv00549, 2021 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34490469
16.
Distinct behavior of human Langerhans cells and inflammatory dendritic epidermal cells at tight junctions in patients with atopic dermatitis.
J Allergy Clin Immunol
; 134(4): 856-64, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25282566
17.
A homozygous nonsense mutation in the gene for Tmem79, a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis.
J Allergy Clin Immunol
; 132(5): 1111-1120.e4, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24060273
18.
Altered stratum corneum barrier and enhanced percutaneous immune responses in filaggrin-null mice.
J Allergy Clin Immunol
; 129(6): 1538-46.e6, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22409988
19.
Solitary fibrous tumor of the breast: A case report.
Int J Surg Case Rep
; 108: 108369, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37315497
20.
Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism.
Eur J Hum Genet
; 31(6): 716-720, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36922631