Search details
1.
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Brain
; 146(12): 5044-5059, 2023 12 01.
Article
in English
| MEDLINE | ID: mdl-38040034
2.
Pathogenesis of solar urticaria: Classic perspectives and emerging concepts.
Exp Dermatol
; 31(4): 586-593, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34726314
3.
Pediatric Autoimmune Bullous Disease: A Literature Review and Update on Management.
Pediatr Rev
; 43(6): 309-321, 2022 Jun 01.
Article
in English
| MEDLINE | ID: mdl-35641451
4.
Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites.
Blood
; 133(26): 2753-2764, 2019 06 27.
Article
in English
| MEDLINE | ID: mdl-31064750
5.
Dupilumab in Chronic Actinic Dermatitis: a retrospective case series.
Br J Dermatol
; 2024 Apr 24.
Article
in English
| MEDLINE | ID: mdl-38656979
6.
A single-centre retrospective review of treatment responses and adverse events of thalidomide in patients with inflammatory skin disease.
Clin Exp Dermatol
; 49(2): 168-170, 2024 Jan 25.
Article
in English
| MEDLINE | ID: mdl-37652049
7.
A novel variant in the PTPN11 gene c.1277A>G p.(His426Arg) in a patient with Noonan Syndrome with Multiple Lentigines.
Clin Exp Dermatol
; 2024 Apr 18.
Article
in English
| MEDLINE | ID: mdl-38634779
8.
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Proc Natl Acad Sci U S A
; 113(9): E1236-45, 2016 Mar 01.
Article
in English
| MEDLINE | ID: mdl-26884178
9.
Cover Image: Local cutaneous refractoriness to sun exposure following omalizumab injections in solar urticaria.
Br J Dermatol
; 188(5): e34, 2023 04 20.
Article
in English
| MEDLINE | ID: mdl-36703220
10.
Systematic review of the clinical characteristics and natural history of solar urticaria.
J Am Acad Dermatol
; 89(1): 138-140, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36796725
11.
Fibrosis assessment using transient elastography identifies obesity as a risk factor for hepatic fibrosis in erythropoietic protoporphyria.
Photodermatol Photoimmunol Photomed
; 39(4): 400-402, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-36346074
12.
A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex.
Clin Exp Dermatol
; 48(7): 840-843, 2023 07 07.
Article
in English
| MEDLINE | ID: mdl-36929380
13.
British Association of Dermatologists and British Photodermatology Group guidelines for narrowband ultraviolet B phototherapy 2022.
Br J Dermatol
; 187(3): 295-308, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35604545
14.
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Am J Hum Genet
; 92(5): 807-19, 2013 May 02.
Article
in English
| MEDLINE | ID: mdl-23623389
15.
Broad-spectrum abnormal localized photosensitivity syndrome.
J Am Acad Dermatol
; 85(5): 1298-1300, 2021 11.
Article
in English
| MEDLINE | ID: mdl-32896592
16.
Primary and secondary intralymphatic histiocytosis.
J Am Acad Dermatol
; 70(5): 927-33, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24440319
17.
Insights from multi-omic modeling of neurodegeneration in xeroderma pigmentosum using an induced pluripotent stem cell system.
Cell Rep
; 43(6): 114243, 2024 May 27.
Article
in English
| MEDLINE | ID: mdl-38805398
18.
Spotlight on 'xeroderma pigmentosum'.
Photochem Photobiol Sci
; 12(1): 78-84, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-23132518
19.
Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers.
Front Oncol
; 13: 1282823, 2023.
Article
in English
| MEDLINE | ID: mdl-37954081
20.
Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.
Nat Commun
; 14(1): 2561, 2023 05 04.
Article
in English
| MEDLINE | ID: mdl-37142601