Detalhe da pesquisa
1.
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.
Nat Immunol
; 17(5): 495-504, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27019227
2.
Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation.
Br J Dermatol
; 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38489583
3.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet
; 107(1): 34-45, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497488
4.
Loss-of-function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis.
Clin Genet
; 103(3): 301-309, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371786
5.
Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma.
Exp Dermatol
; 32(5): 699-706, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36811447
6.
Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder.
Br J Dermatol
; 188(1): 100-111, 2023 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36689511
7.
Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway.
Hereditas
; 158(1): 18, 2021 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34074347
8.
Generalized bullae in a young girl with KRT6A-related pachyonychia congenita.
Pediatr Dermatol
; 37(5): 974-976, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32662074
9.
Progressive hyperpigmentation and lentigines due to KIT variants improving with imatinib.
Br J Dermatol
; 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38470964
10.
Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB.
J Eur Acad Dermatol Venereol
; 38(4): e323-e325, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37907281
11.
TRPV1 gain-of-function mutation impairs pain and itch sensations in mice.
Mol Pain
; 14: 1744806918762031, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29424270
12.
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Am J Hum Genet
; 96(3): 440-7, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25683118
13.
Chemical lumbar sympathectomy in the treatment of recalcitrant erythromelalgia.
J Vasc Surg
; 68(6): 1897-1905, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30126782
14.
Identification of the underlying gene for Flegel disease: another 'two-hit' genodermatosis?
Br J Dermatol
; 188(1): 7-8, 2023 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36689527
15.
Postzygotic gain-of-function variants in FGFR2 in two patients with hair follicle naevus.
Br J Dermatol
; 189(5): 641-643, 2023 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37540986
16.
Efficacy, safety, and cost-effectiveness of all-trans retinoic acid/Clobetasol Propionate Compound Ointment in the treatment of mild to moderate psoriasis vulgaris: A randomized, single-blind, multicenter clinical trial.
Dermatol Ther
; 31(5): e12632, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30253049
17.
Bilateral Symmetrical Nodules on the Thumbs in a Female Patient: A Quiz.
Acta Derm Venereol
; 103: adv11143, 2023 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37587666
18.
A novel CLDN1 variant identified in a case of ILVASC with sparse curly hair.
Clin Exp Dermatol
; 48(7): 794-795, 2023 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36881999
19.
Sitosterolaemia presenting with consistent skin xanthomas in a pair of monozygotic twins who responded to ezetimibe treatment.
Clin Exp Dermatol
; 48(11): 1292-1294, 2023 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37417223
20.
PLACK syndrome caused by novel pathogenic variants in CAST: a case report and literature review.
Clin Exp Dermatol
; 48(9): 1052-1055, 2023 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37140444