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[Hereditary macular dystrophies].
Rozet JM, Gerber S, Ducroq D, Hamel C, Dufier JL, Kaplan J. Rozet JM, et al. J Fr Ophtalmol. 2005 Jan;28(1):113-24. doi: 10.1016/s0181-5512(05)81033-2. J Fr Ophtalmol. 2005. PMID: 15767907 Review. French.
A third locus for dominant optic atrophy on chromosome 22q.
Barbet F, Hakiki S, Orssaud C, Gerber S, Perrault I, Hanein S, Ducroq D, Dufier JL, Munnich A, Kaplan J, Rozet JM. Barbet F, et al. Among authors: rozet jm. J Med Genet. 2005 Jan;42(1):e1. doi: 10.1136/jmg.2004.025502. J Med Genet. 2005. PMID: 15635063 Free PMC article. No abstract available.
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
Zanetti A, Dujardin G, Fares-Taie L, Amiel J, Roger JE, Audo I, Robert MP, David P, Jung V, Goudin N, Guerrera IC, Moriceau S, Amana D, Assia Batzir N, Bachar-Zipori A, Basel Salmon L, Boddaert N, Briault S, Bruel AL, Costet-Fighiera C, Coutinho Santos L, Gitiaux C, Kaminska K, Kuentz P, Orenstein N, Philip-Sarles N, Plutino M, Quinodoz M, Santos C, Sigaudy S, Soeiro E Sá M, Sofrin E, Sousa AB, Sousa-Luis R, Thauvin-Robinet C, van Dijk EL, Zaafrane-Khachnaoui K, Zur D, Kaplan J, Rivolta C, Rozet JM, Perrault I. Zanetti A, et al. Among authors: rozet jm. Nat Commun. 2024 Nov 21;15(1):10096. doi: 10.1038/s41467-024-54549-8. Nat Commun. 2024. PMID: 39572588 Free PMC article.
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.
Cortés-González V, Rodriguez-Morales M, Ataliotis P, Mayer C, Plaisancié J, Chassaing N, Lee H, Rozet JM, Cavodeassi F, Fares Taie L. Cortés-González V, et al. Among authors: rozet jm. Hum Genet. 2024 Dec;143(12):1509-1521. doi: 10.1007/s00439-024-02712-y. Epub 2024 Nov 6. Hum Genet. 2024. PMID: 39503780 Free PMC article.
Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.
Erjavec E, Angée C, Hadjadj D, Passet B, David P, Kostic C, Dodé E, Zanlonghi X, Cagnard N, Nedelec B, Crippa SV, Bole-Feysot C, Zarhrate M, Creuzet S, Castille J, Vilotte JL, Calvas P, Plaisancié J, Chassaing N, Kaplan J, Rozet JM, Fares Taie L. Erjavec E, et al. Among authors: rozet jm. Am J Hum Genet. 2024 Oct 3;111(10):2265-2282. doi: 10.1016/j.ajhg.2024.08.019. Epub 2024 Sep 17. Am J Hum Genet. 2024. PMID: 39293448
148 results