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Page 1
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: grimi b. 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
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: grimi b. 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: grimi b. 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 BACs-on-Beads™ : a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.
Vialard F, Simoni G, Aboura A, De Toffol S, Molina Gomes D, Marcato L, Serero S, Clement P, Bouhanna P, Rouleau E, Grimi B, Selva J, Gaetani E, Maggi F, Joseph A, Benzacken B, Grati FR. Vialard F, et al. Among authors: grimi b. Prenat Diagn. 2011 May;31(5):500-8. doi: 10.1002/pd.2727. Epub 2011 Mar 14. Prenat Diagn. 2011. PMID: 21404304
QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44,727 first-trimester prenatal diagnoses.
Grati FR, Malvestiti F, Grimi B, Gaetani E, Di Meco AM, Trotta A, Liuti R, Chinetti S, Dulcetti F, Ruggeri AM, Agrati C, Frascoli G, Milani S, De Toffol S, Martinoni L, Paganini S, Marcato L, Maggi F, Simoni G. Grati FR, et al. Among authors: grimi b. Prenat Diagn. 2013 May;33(5):502-8. doi: 10.1002/pd.4099. Epub 2013 Apr 21. Prenat Diagn. 2013. PMID: 23606546
21 results