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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: ruggeri a. Prenat Diagn. 2014 May;34(5):460-8. doi: 10.1002/pd.4330. Epub 2014 Feb 11. Prenat Diagn. 2014. PMID: 24436202
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: ruggeri am. 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
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: ruggeri am. 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.
Application of a new molecular technique for the genetic evaluation of products of conception.
Grati FR, Gomes DM, Ganesamoorthy D, Marcato L, De Toffol S, Blondeel E, Malvestiti F, Loeuillet L, Ruggeri AM, Wainer R, Maggi F, Aboura A, Dupont C, Tabet AC, Guimiot F, Slater HR, Simoni G, Vialard F. Grati FR, et al. Among authors: ruggeri am. Prenat Diagn. 2013 Jan;33(1):32-41. doi: 10.1002/pd.4004. Epub 2012 Nov 20. Prenat Diagn. 2013. PMID: 23168908
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: ruggeri am. Prenat Diagn. 2013 May;33(5):502-8. doi: 10.1002/pd.4099. Epub 2013 Apr 21. Prenat Diagn. 2013. PMID: 23606546
Response to "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: ruggeri am. Prenat Diagn. 2013 Nov;33(11):1117. doi: 10.1002/pd.4220. Prenat Diagn. 2013. PMID: 24590588 No abstract available.
13 results