Detalhe da pesquisa
1.
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
Hum Mol Genet
; 31(12): 1970-1978, 2022 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999892
2.
Midfacial Toddler Excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.
Br J Dermatol
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38591490
3.
Do people with eczema and their carers understand topical steroid potency? Results of two surveys.
Clin Exp Dermatol
; 49(3): 267-270, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37925627
4.
Topical steroid withdrawal: a survey of UK dermatologists' attitudes.
Clin Exp Dermatol
; 49(6): 607-611, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38320214
5.
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.
Br J Dermatol
; 188(1): 75-83, 2023 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36689522
6.
British Society for Paediatric and Adolescent Dermatology assessment and support of mental health in children and young people with skin conditions: a multidisciplinary expert consensus statement and recommendations.
Br J Dermatol
; 189(4): 459-466, 2023 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37291902
7.
The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database.
Br J Dermatol
; 186(5): 843-848, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927719
8.
Achenbach syndrome: no need for skin biopsy.
Clin Exp Dermatol
; 47(9): 1730, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35596596
9.
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
Clin Genet
; 98(1): 19-31, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32291752
10.
Caring for babies born with epidermolysis bullosa.
Br J Dermatol
; 190(5): 608, 2024 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38305490
11.
Potency of topical steroids should be clearly labelled on all packaging.
Br J Dermatol
; 188(3): 427-428, 2023 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36637151
12.
Birth incidence and outcome of harlequin ichthyosis and collodion membrane in the UK and Ireland: a national 2-year prospective surveillance study.
Br J Dermatol
; 188(1): 139-140, 2023 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36689518
13.
Topical steroid withdrawal is not a myth. Comment on '#corticophobia: a review on online misinformation related to topical steroids'.
Clin Exp Dermatol
; 48(6): 697, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36787284
14.
Topical steroid withdrawal syndrome: time to bridge the gap.
Br J Dermatol
; 187(5): 780-781, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833942
15.
Congenital cutaneous lymphadenoma.
J Cutan Pathol
; 44(11): 954-957, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28796320
16.
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Nucleic Acids Res
; 42(Database issue): D966-74, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24217912
17.
Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.
J Hum Genet
; 60(11): 717-22, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26311541
18.
Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome?
Am J Med Genet A
; 182(12): 3074-3075, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32975012
19.
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
Nat Genet
; 38(11): 1245-7, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17041604
20.
Extending the phenotype of midface toddler excoriation syndrome (MiTES): Five new cases in three families with PR domain containing protein 12 (PRDM12) mutations.
J Am Acad Dermatol
; 81(6): 1415-1417, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31128170