IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association
Tài liệu tham khảo
Bifari, 2016, The ophthalmic phenotype of IFT140 -related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy, Br J Opthalmol, 100, 829, 10.1136/bjophthalmol-2015-307555
Bullich, 2015, Targeted next-generation sequencing in steroid- resistant nephrotic syndrome: mutations in multiple glomerular genes may in fl uence disease severity, Eur. J. Hum. Genet., 1192, 10.1038/ejhg.2014.252
Coussa, 2013, WDR19 : an ancient , retrograde , intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome, Clin. Genet., 84, 150, 10.1111/cge.12196
Fehrenbach, 2014, Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies, Pediatr. Nephrol., 29, 1451, 10.1007/s00467-014-2762-2
Geoffroy, 2018, Whole Genome Sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140, Hum. Mutat., 39, 983, 10.1002/humu.23539
Halbritter, 2013, Defects in the IFT-B component IFT172 cause Jeune and mainzer-saldino syndromes in humans, Am. J. Hum. Genet., 93, 915, 10.1016/j.ajhg.2013.09.012
Helm, 2017, Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome, Hum. Genom., 11, 1, 10.1186/s40246-017-0111-9
Khan, 2014, Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy, J AAPOS, 18, 203, 10.1016/j.jaapos.2013.11.016
Low, 2017, Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa, Ophthalmic Genet., 39, 286, 10.1080/13816810.2017.1393827
Mortellaro, 2010, Saldino-mainzer Syndrome : nephronophthisis , retinitis pigmentosa, and cone-shaped epiphyses, J. Craniofac. Surg., 21, 1554, 10.1097/SCS.0b013e3181ec69bb
Oud, 2018, Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer – saldino syndrome diagnosis, Cilia, 1, 10.1186/s13630-018-0055-2
Perrault, 2012, Mainzer-saldino syndrome is a ciliopathy caused by IFT140 mutations, Am. J. Hum. Genet., 90, 864, 10.1016/j.ajhg.2012.03.006
Ryan, 2018, Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies, 27
Sedmak, 2011, Intraflagellar transport proteins in ciliogenesis of photoreceptor cells, 103, 449
Soyalt, 2017, Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease ? Questions, Pediatr. Nephrol., 33, 801
Takahara, 2018, Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis, Hum. Mol. Genet., 27, 516, 10.1093/hmg/ddx421