Associated Papers
Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
Bizaoui V et al.
American Journal of Medical Genetics. Part A, 2019
IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.
Moran J et al.
Clinical Genetics, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Normand EA et al.
Genome Medicine, 2018
Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis.
Taschner M et al.
Elife, 2018
Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing.
Chen LS et al.
Genetics and Molecular Research : Gmr, 2016
Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2012
Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2012
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.
Cavalcanti DP et al.
Journal of Medical Genetics, 2011
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