Associated Papers
Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients.
Ho M et al.
Human Genomics, 2024
Exome sequence analysis of rare frequency variants in Late-Onset Alzheimer Disease.
Sundarrajan S et al.
Metabolic Brain Disease, 2023
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.
Warrack S et al.
Journal of Child Neurology, 2021
Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.
Staps P et al.
Jimd Reports, 2020
Sjogren-Larsson Syndrome: Mechanisms and Management.
Bindu PS
The Application of Clinical Genetics, 2020
Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
Amr K et al.
Archives of Dermatological Research, 2019
Genotype and phenotype variability in Sjögren-Larsson syndrome.
Weustenfeld M et al.
Human Mutation, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.
Cho KH et al.
Clinical Genetics, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Atypical Presentation of Sjögren-Larsson Syndrome.
Papathemeli D et al.
Case Reports in Pediatrics, 2017
Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily.
Priyadharshini Christy J et al.
Frontiers in Bioscience (landmark Edition), 2015
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.
Keller MA et al.
Nature Communications, 2014
Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study.
Wang LL et al.
Alcohol (fayetteville, N.y.), 2010
Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal.
Keller MA et al.
Journal of Lipid Research, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients.
Gånemo A et al.
Acta Dermato-venereologica, 2009
A novel homozygous missense mutation in the fatty aldehyde dehydrogenase gene causes Sjögren-Larsson syndrome.
Nakano H et al.
Journal of Dermatological Science, 2008
Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
Rizzo WB
Molecular Genetics and Metabolism, 2007
Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
Rizzo WB et al.
Human Mutation, 2005
Update on genetic disorders affecting white matter.
Kaye EM
Pediatric Neurology, 2001
RNA-based mutation screening in German families with Sjögren-Larsson syndrome.
Kraus C et al.
European Journal of Human Genetics : Ejhg, 2000
The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
Rizzo WB et al.
American Journal of Human Genetics, 1999
Molecular basis of Sjögren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-->T mutation in 29 patients.
Ijlst L et al.
Journal of Inherited Metabolic Disease, 1999
Detailed genetic and physical mapping in the Sjögren-Larsson syndrome gene region in 17p11.2.
Sillén A et al.
Hereditas, 1998
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.
Sillén A et al.
Human Mutation, 1998
First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome.
Sillén A et al.
Prenatal Diagnosis, 1997
A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.
Sillén A et al.
Human Genetics, 1997
Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients.
De Laurenzi V et al.
The Journal of Investigative Dermatology, 1997
Unusual absence of neurologic symptoms in a six-year old girl with ataxia-telangiectasia.
Trimis GG et al.
Journal of Postgraduate Medicine, 0