Detalhe da pesquisa
1.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Genet Med
; 24(11): 2296-2307, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066546
2.
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
Hum Mol Genet
; 26(6): 1070-1077, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158657
3.
Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.
Acta Derm Venereol
; 94(6): 707-10, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24604124
4.
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Genes (Basel)
; 14(3)2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980989
5.
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.
PLoS One
; 17(2): e0264056, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35176117
6.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Med
; 13(1): 40, 2021 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33726816
7.
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Genes (Basel)
; 12(1)2021 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33435499
8.
Drug-Mediated Gene Regulation of Vitamin D3 Metabolism in Primary Human Dermal Fibroblasts.
Basic Clin Pharmacol Toxicol
; 120(1): 59-63, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27404500
9.
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
Arch Dermatol
; 147(6): 681-6, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21339420
10.
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.
J Invest Dermatol
; 130(2): 438-43, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19890349