Detalhe da pesquisa
1.
A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
J Med Genet
; 60(3): 233-240, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35710109
2.
Potential di-genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex.
Exp Dermatol
; 31(12): 1927-1931, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35960249
3.
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
em Inglês
| MEDLINE | ID: mdl-34379845
4.
Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor.
Exp Dermatol
; 31(5): 775-780, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34913528
5.
Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
Exp Dermatol
; 30(9): 1290-1297, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33786896
6.
An Update on the Cutaneous Manifestations of Darier Disease.
J Cutan Med Surg
; 25(5): 498-503, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715454
7.
Heterozygous variants in the integrin subunit beta 4 gene (ITGB4) cause autosomal dominant nail dystrophy.
Br J Dermatol
; 187(5): 826-828, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822394
8.
Combination therapy of cyclosporine and anti-tumor necrosis factor α in psoriasis: a case series of 10 patients.
Dermatol Ther
; 28(3): 126-30, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25640261
9.
Wells' Syndrome Induced by Ustekinumab.
Isr Med Assoc J
; 21(1): 65, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30685913
10.
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.
Orphanet J Rare Dis
; 19(1): 92, 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38419071
11.
Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.
JAMA Dermatol
; 160(5): 518-524, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38536168
12.
Diagnosis, treatment, and long-term outcomes of pediatric pemphigus: a retrospective study at tertiary medical centers.
Int J Dermatol
; 2024 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38819034
13.
Trends of Diagnosis, Disease Course, and Treatment of Atopic Dermatitis 2012-2021: Real-World Data from a Large Healthcare Provider.
J Clin Med
; 13(1)2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38202289
14.
Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans.
Acta Derm Venereol
; 98(8): 809-810, 2018 Aug 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29796690
15.
Treatment with Methotrexate in Infants and Toddlers with Atopic Dermatitis: A Retrospective Multi-Center Study.
J Clin Med
; 12(16)2023 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37629451
16.
Parental mosaic cutaneous-gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis-deafness syndrome.
J Dermatol
; 49(3): 379-382, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34889473
17.
Characteristics of Atopic Dermatitis Patients Treated with Crisaborole: Real-World Data from a Large Healthcare Provider Database in Israel.
Clin Cosmet Investig Dermatol
; 15: 1205-1211, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35795722
18.
Epidermal stratification requires retromer-mediated desmoglein-1 recycling.
Dev Cell
; 57(24): 2683-2698.e8, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36495876
19.
Translational implications of Th17-skewed inflammation due to genetic deficiency of a cadherin stress sensor.
J Clin Invest
; 132(3)2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34905516
20.
Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.
Eur J Hum Genet
; 29(2): 338-342, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32939038