Associated Papers
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Lipoid proteinosis or Urbach-Wiethe disease: Description of a new case with cerebral involvement.
Abril-Jaramillo J et al.
Neurologia (barcelona, Spain), 2017
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.
Rey LK et al.
Molecular Syndromology, 2016
Clinical and molecular study of the extracellular matrix protein 1 gene in a spanish family with lipoid proteinosis.
Mondejar R et al.
Journal of Clinical Neurology (seoul, Korea), 2014
N-Glycosylation of extracellular matrix protein 1 (ECM1) regulates its secretion, which is unrelated to lipoid proteinosis.
Uematsu S et al.
Febs Open Bio, 2014
A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient.
Izadi F et al.
Genetics and Molecular Research : Gmr, 2012
Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.
Nasir M et al.
Diagnostic Pathology, 2011
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.
Chan I et al.
Experimental Dermatology, 2007
Lipoid proteinosis: case report and review of the literature.
Di Giandomenico S et al.
Acta Otorhinolaryngologica Italica : Organo Ufficiale Della Societa Italiana Di Otorinolaringologia E Chirurgia Cervico-facciale, 2006
Molecular basis of lipoid proteinosis in two Indian siblings.
Chan I et al.
The Journal of Dermatology, 2004
Molecular basis of lipoid proteinosis in a Libyan family.
Chan I et al.
Clinical and Experimental Dermatology, 2003
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
Hamada T et al.
The Journal of Investigative Dermatology, 2003
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Hamada T et al.
Human Molecular Genetics, 2002
Clinical and molecular abnormalities in lipoid proteinosis.
Desmet S et al.
European Journal of Dermatology : Ejd, 0