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Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Among authors: gorin mb. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
Central nervous system involvement in Von Hippel-Lindau disease.
Filling-Katz MR, Choyke PL, Oldfield E, Charnas L, Patronas NJ, Glenn GM, Gorin MB, Morgan JK, Linehan WM, Seizinger BR, et al. Filling-Katz MR, et al. Among authors: gorin mb. Neurology. 1991 Jan;41(1):41-6. doi: 10.1212/wnl.41.1.41. Neurology. 1991. PMID: 1985294
Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.
Aldave AJ, Rosenwasser GO, Yellore VS, Papp JC, Sobel EM, Pham MN, Chen MC, Dandekar S, Sripracha R, Rayner SA, Sassani JW, Gorin MB. Aldave AJ, et al. Among authors: gorin mb. Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4006-12. doi: 10.1167/iovs.09-4067. Epub 2010 Mar 31. Invest Ophthalmol Vis Sci. 2010. PMID: 20357198 Free PMC article.
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH, Khan M, Cornelis SS, Roosing S, Del Pozo-Valero M, Lamey TM, Liskova P, Roberts L, Stöhr H, Klaver CCW, Hoyng CB, Cremers FPM, Dhaenens CM; Disease Consortium Study Group. Runhart EH, et al. JAMA Ophthalmol. 2020 Oct 1;138(10):1035-1042. doi: 10.1001/jamaophthalmol.2020.2990. JAMA Ophthalmol. 2020. PMID: 32815999 Free PMC article.
181 results