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Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1).
Grati FR, Lesperance MM, De Toffol S, Chinetti S, Selicorni A, Emery S, Grimi B, Dulcetti F, Malvestiti B, Taylor J, Milani S, Ruggeri AM, Maggi F, Simoni G. Grati FR, et al. Among authors: simoni g. Am J Med Genet A. 2009 May;149A(5):906-13. doi: 10.1002/ajmg.a.32754. Am J Med Genet A. 2009. PMID: 19353688 Free article.
Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes.
Grati FR, Barlocco A, Grimi B, Milani S, Frascoli G, Di Meco AM, Liuti R, Trotta A, Chinetti S, Dulcetti F, Ruggeri AM, De Toffol S, Clementi M, Maggi F, Simoni G. Grati FR, et al. Among authors: simoni g. Am J Med Genet A. 2010 Jun;152A(6):1434-42. doi: 10.1002/ajmg.a.33370. Am J Med Genet A. 2010. PMID: 20503318
Prenatal detection by subtelomeric FISH and MLPA of unbalanced meiotic recombinants resulting from parental pericentric inversions.
Grati FR, Chinetti S, Malgara R, Rognoni G, Grimi B, De Toffol S, Milani S, Dulcetti F, Frascoli G, Di Meco AM, Liuti R, Trotta A, Coffa J, Maggi F, Simoni G. Grati FR, et al. Among authors: simoni g. Mol Cell Probes. 2008 Oct-Dec;22(5-6):316-9. doi: 10.1016/j.mcp.2008.06.004. Epub 2008 Jul 8. Mol Cell Probes. 2008. PMID: 18657607
De novo small supernumerary marker chromosomes detected on 143,000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches.
Malvestiti F, De Toffol S, Grimi B, Chinetti S, Marcato L, Agrati C, Di Meco AM, Frascoli G, Trotta A, Malvestiti B, Ruggeri A, Dulcetti F, Maggi F, Simoni G, Grati FR. Malvestiti F, et al. Among authors: simoni g. Prenat Diagn. 2014 May;34(5):460-8. doi: 10.1002/pd.4330. Epub 2014 Feb 11. Prenat Diagn. 2014. PMID: 24436202
Increased risk after noninvasive prenatal screening on cell-free DNA circulating in maternal blood: does a new indication for invasive prenatal diagnosis require new criteria for confirmatory cytogenetic analysis?
Grati FR, Malvestiti F, Grimi B, Liuti R, Agrati C, Gaetani E, Milani S, Martinoni L, Zanatta V, Gallazzi G, Maggi F, Simoni G. Grati FR, et al. Among authors: simoni g. Prenat Diagn. 2015 Mar;35(3):308-9. doi: 10.1002/pd.4483. Prenat Diagn. 2015. PMID: 25754154 No abstract available.
347 results