| 1 | IFT140, RRPAS
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| Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.
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| Walczak-Sztulpa J, Posmyk R, Bukowska-Olech EM, Wawrocka A, Jamsheer A, Oud MM, Schmidts M, Arts HH, Latos-Bielenska A, Wasilewska A.
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| Orphanet J Rare Dis. Feb 1;15(1):36. doi: 10.1186/s13023-020-1303-2. 2020
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| 2 | IFT140, RRPAS
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| Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.
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| Oud MM, Latour BL, Bakey Z, Letteboer SJ, Lugtenberg D, Wu KM, Cornelissen EAM, Yntema HG, Schmidts M, Roepman R, Bongers EMHF.
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| Cilia Feb 23;7:1. doi: 10.1186/s13630-018-0055-2. eCollection 2018 2018
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| 3 | IFT140, RRPAS
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| Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease
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| Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C.
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| Hum Mutat. May;34(5):714-24. doi: 10.1002/humu.22294. 2013
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| 4 | IFT140, RRPAS
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| Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations.
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| Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM.
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| Am J Hum Genet 90(5):864-70. Epub 2012 Apr 12.
2012
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| 5 | RRPAS
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| Hereditary sclerosing glomerulopathy in the conorenal syndrome.
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| Mendley SR, Poznanski AK, Spargo BH, Langman CB.
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| Am J Kidney Dis 25(5):792-7. 1995
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