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Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.
Grasso M, Faravelli F, Lo Nigro C, Chiurazzi P, Sperandeo MP, Argusti A, Pomponi MG, Lecora M, Sebastio GF, Perroni L, Andria G, Neri G, Bricarelli FD. Grasso M, et al. Among authors: neri g. Am J Med Genet. 1999 Jul 30;85(3):311-6. doi: 10.1002/(sici)1096-8628(19990730)85:3<311::aid-ajmg24>3.0.co;2-a. Am J Med Genet. 1999. PMID: 10398249
XLMR genes: update 1992.
Neri G, Chiurazzi P, Arena F, Lubs HA, Glass IA. Neri G, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):373-82. doi: 10.1002/ajmg.1320430158. Am J Med Genet. 1992. PMID: 1605215 Review.
Sixth international workshop on the fragile X and X-linked mental retardation.
Sutherland GR, Brown WT, Hagerman R, Jenkins E, Lubs H, Mandel JL, Nelson D, Neri G, Partington MW, Richards RI, et al. Sutherland GR, et al. Among authors: neri g. Am J Med Genet. 1994 Jul 15;51(4):281-93. doi: 10.1002/ajmg.1320510402. Am J Med Genet. 1994. PMID: 7942989 No abstract available.
933 results