Grati FR - Search Results

1

Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis.

Malvestiti F, Agrati C, Grimi B, Pompilii E, Izzi C, Martinoni L, Gaetani E, Liuti MR, Trotta A, Maggi F, Simoni G, Grati FR. Malvestiti F, et al. Among authors: grati fr. Prenat Diagn. 2015 Nov;35(11):1117-27. doi: 10.1002/pd.4656. Epub 2015 Sep 11. Prenat Diagn. 2015. PMID: 26213308

2

Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression.

Miozzo M, Grati FR, Bulfamante G, Rossella F, Cribiù M, Radaelli T, Cassani B, Persico T, Cetin I, Pardi G, Simoni G. Miozzo M, et al. Among authors: grati fr. Placenta. 2001 Nov;22(10):813-21. doi: 10.1053/plac.2001.0728. Placenta. 2001. PMID: 11718568

3

Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations.

Ruggeri A, Dulcetti F, Miozzo M, Grati FR, Grimi B, Bellato S, Natacci F, Maggi F, Simoni G. Ruggeri A, et al. Among authors: grati fr. Prenat Diagn. 2004 Dec 15;24(12):997-1000. doi: 10.1002/pd.961. Prenat Diagn. 2004. PMID: 15614836

4

Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi.

Grati FR, Grimi B, Frascoli G, Di Meco AM, Liuti R, Milani S, Trotta A, Dulcetti F, Grosso E, Miozzo M, Maggi F, Simoni G. Grati FR, et al. Eur J Hum Genet. 2006 Mar;14(3):282-8. doi: 10.1038/sj.ejhg.5201564. Eur J Hum Genet. 2006. PMID: 16418738

5

Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.

Grati FR, Turolla L, D'Ajello P, Ruggeri A, Miozzo M, Bracalente G, Baldo D, Laurino L, Boldorini R, Frate E, Surico N, Larizza L, Maggi F, Simoni G. Grati FR, et al. J Med Genet. 2007 Apr;44(4):257-63. doi: 10.1136/jmg.2006.046854. Epub 2007 Jan 26. J Med Genet. 2007. PMID: 17259293 Free PMC article.

6

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. 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

7

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. 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.

8

Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region.

De Toffol S, Bellone E, Dulcetti F, Ruggeri AM, Maggio PP, Pulimeno MR, Mandich P, Maggi F, Simoni G, Grati FR. De Toffol S, et al. Among authors: grati fr. Genet Test Mol Biomarkers. 2010 Apr;14(2):225-31. doi: 10.1089/gtmb.2009.0118. Genet Test Mol Biomarkers. 2010. PMID: 20187762

9

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. 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

10

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: grati fr. Prenat Diagn. 2011 May;31(5):500-8. doi: 10.1002/pd.2727. Epub 2011 Mar 14. Prenat Diagn. 2011. PMID: 21404304

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