Associated Papers
Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.
Hunt C et al.
Investigative Ophthalmology & Visual Science, 2025
40923693 (PubMed )
Supplement: iovs-66-12-22_s002.xlsx › ST7_Systemic_Disease
Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.
Wang Y et al.
Progress in Retinal and Eye Research, 2025
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis.
Peng J et al.
Bmc Ophthalmology, 2025
40739497 (PubMed )
Supplement: 12886_2025_4261_MOESM1_ESM.xls › Supplement_1
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.
van der Ende S et al.
Investigative Ophthalmology & Visual Science, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.
Silva NÁ et al.
Bmc Ophthalmology, 2024
Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations.
Xu N et al.
Journal of Medical Genetics, 2023
Update on the Phenotypic and Genotypic Spectrum of KIF11-Related Retinopathy.
Wang Y et al.
Genes, 2022
Clinical Interpretation of Sequence Variants.
Zhang J et al.
Current Protocols in Human Genetics, 2020
Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly.
Karjosukarso DW et al.
European Journal of Human Genetics : Ejhg, 2018
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
Robitaille JM et al.
Jama Ophthalmology, 2014
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
Jones GE et al.
European Journal of Human Genetics : Ejhg, 2014
A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.
Hazan F et al.
American Journal of Medical Genetics. Part A, 2012
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