Detalhe da pesquisa
1.
Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP.
J Eur Acad Dermatol Venereol
; 36(3): 472-479, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863005
2.
GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype.
Br J Dermatol
; 184(6): 1170-1174, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33000479
3.
Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
Br J Dermatol
; 182(3): 729-737, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31168818
4.
Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.
Br J Dermatol
; 181(3): 584-586, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30307612
5.
Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.
Clin Exp Dermatol
; 43(5): 579-584, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29473190
6.
Novel splice mutation in CDSN gene causing type b peeling skin syndrome.
J Eur Acad Dermatol Venereol
; 36(6): e456-e460, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35067988
7.
Management of symptomatic mucosal involvement in paediatric pachyonychia congenita.
Br J Dermatol
; 182(3): 536-537, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31957008
8.
Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene.
Clin Exp Dermatol
; 40(6): 636-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25754064
9.
Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects.
Br J Dermatol
; 178(3): e219-e221, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29023646
10.
First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.
Clin Exp Dermatol
; 43(6): 719-722, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29427316
11.
Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis.
Br J Dermatol
; 177(2): 342-343, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28833017
12.
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
Br J Dermatol
; 177(1): 319-322, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28403545
13.
Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum.
Br J Dermatol
; 175(4): 810-4, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27037860