Associated Papers
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.
Manisha KY et al.
Neurology. Genetics, 2024
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM3_ESM.xlsx › Feuil1
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
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
Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.
Abdel-Hamid MS et al.
Journal of Human Genetics, 2019
Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.
Cho KH et al.
Clinical Genetics, 2018
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
Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.
Didona B et al.
Journal of Human Genetics, 2007
Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
Rizzo WB et al.
Human Mutation, 2005
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
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.
Sillén A et al.
Human Mutation, 1998
Bezafibrate induces FALDH in human fibroblasts; implications for Sjögren-Larsson syndrome.
Gloerich J et al.
Molecular Genetics and Metabolism, 0
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