Associated Papers
Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort.
Asboth B et al.
Genes, 2025
Pathogenic variants in the IFT140 gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literature.
Koce M et al.
Ophthalmic Genetics, 2025
Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery.
Beyer T et al.
Molecular & Cellular Proteomics : Mcp, 2025
Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies.
Margiotti K et al.
Diagnostics (basel, Switzerland), 2024
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 › unsolved_patients
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
38927562 (PubMed )
Supplement: biomedicines-12-01355-s001.zip › Table_S2_Patients_and_variants.xlsx › merged_variants_and_patients_co
Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?
Ilic N et al.
Genes, 2024
38927725 (PubMed )
Supplement: genes-15-00789-s001.zip › genes-3017928-supplementary.pdf
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.
Sharova M et al.
Genes, 2023
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D et al.
International Journal of Molecular Sciences, 2023
37240262 (PubMed )
Supplement: ijms-24-08915-s001.zip › ijms-2363585-supplementary.pdf
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C et al.
Archives of Gynecology and Obstetrics, 2022
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.
Walczak-Sztulpa J et al.
Orphanet Journal of Rare Diseases, 2020
Novel IFT140 variants cause spermatogenic dysfunction in humans.
Wang X et al.
Molecular Genetics & Genomic Medicine, 2019
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Geoffroy V et al.
Human Mutation, 2018
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.
Oud MM et al.
Cilia, 2018
Mutations in human IFT140 cause non-syndromic retinal degeneration.
Xu M et al.
Human Genetics, 2015
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.
Miller KA et al.
Plos Genetics, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Schmidts M et al.
Human Mutation, 2013
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