Associated Papers
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
Zernant J et al.
Plos Genetics, 2022
Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4.
Yeboah GK et al.
Journal of Lipid Research, 2021
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function.
Hopiavuori BR et al.
Progress in Retinal and Eye Research, 2019
Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations.
Deák F et al.
Frontiers in Cellular Neuroscience, 2019
Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease.
Gambardella S et al.
Parkinson's Disease, 2018
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients.
Bardak H et al.
Genetics and Molecular Research : Gmr, 2016
Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease.
Zhang J et al.
Molecular Vision, 2016
Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.
Battu R et al.
Biomed Research International, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.
Yi J et al.
Molecular Medicine Reports, 2012
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
Genetics of age-related macular degeneration: current concepts, future directions.
Deangelis MM et al.
Seminars in Ophthalmology, 2011
Role of long-chain and very-long-chain polyunsaturated fatty acids in macular degenerations and dystrophies.
Liu A et al.
Clinical Lipidology, 2011
[Association of M299V variant in ELOVL4 gene with exudative age-related macular degeneration in a Chinese population].
Gu H et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2010
CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.
Conley YP et al.
Human Molecular Genetics, 2006
Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population.
Seitsonen S et al.
Molecular Vision, 2006
Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy.
Conley YP et al.
Human Molecular Genetics, 2005
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.
Zhang K et al.
Nature Genetics, 2001
Review of genetics in age related macular degeneration.
Montezuma SR et al.
Seminars in Ophthalmology, 0
Latest Development on Genetics of Common Retinal Diseases.
Chen LJ et al.
Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0