Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

28 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: de toffol s. 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: de toffol s. 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.
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: de toffol s. Prenat Diagn. 2014 May;34(5):460-8. doi: 10.1002/pd.4330. Epub 2014 Feb 11. Prenat Diagn. 2014. PMID: 24436202
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: de toffol s. 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
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: de toffol s. 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: de toffol s. 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: de toffol s. Prenat Diagn. 2013 Nov;33(11):1117. doi: 10.1002/pd.4220. Prenat Diagn. 2013. PMID: 24590588 No abstract available.
28 results