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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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. Perrault I, et al. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12. Am J Hum Genet. 2012. PMID: 22503633 Free PMC article.
Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD).
Rozet JM, Gerber S, Perrault I, Camuzat A, Calvas P, Viegas-Pequignot E, Molina-Gomes D, Le Paslier D, Chumakov I, Munnich A, Kaplan J. Rozet JM, et al. Among authors: perrault i. Genomics. 1996 Sep 15;36(3):554-6. doi: 10.1006/geno.1996.0508. Genomics. 1996. PMID: 8884286 No abstract available.
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H, Châtelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frézal J, Dufier JL, Pittler S, Munnich A, Kaplan J. Perrault I, et al. Nat Genet. 1996 Dec;14(4):461-4. doi: 10.1038/ng1296-461. Nat Genet. 1996. PMID: 8944027
Severe manifestations in carrier females in X linked retinitis pigmentosa.
Souied E, Segues B, Ghazi I, Rozet JM, Chatelin S, Gerber S, Perrault I, Michel-Awad A, Briard ML, Plessis G, Dufier JL, Munnich A, Kaplan J. Souied E, et al. Among authors: perrault i. J Med Genet. 1997 Oct;34(10):793-7. doi: 10.1136/jmg.34.10.793. J Med Genet. 1997. PMID: 9350809 Free PMC article.
A retGC-1 mutation in autosomal dominant cone-rod dystrophy.
Perrault I, Rozet JM, Gerber S, Kelsell RE, Souied E, Cabot A, Hunt DM, Munnich A, Kaplan J. Perrault I, et al. Am J Hum Genet. 1998 Aug;63(2):651-4. doi: 10.1086/301985. Am J Hum Genet. 1998. PMID: 9683616 Free PMC article. No abstract available.
Structure and refinement of the physical mapping of the gamma- glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesothelioma.
Rozet JM, Gerber S, Perrault I, Calvas P, Souied E, Châtelin S, Viegas-Péquignot, Molina-Gomez D, Munnich A, Kaplan J. Rozet JM, et al. Among authors: perrault i. Cytogenet Cell Genet. 1998;82(1-2):91-4. doi: 10.1159/000015072. Cytogenet Cell Genet. 1998. PMID: 9841137
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