Implications of fetoplacental mosaicism on cell‐free DNA testing for sex chromosome aneuploidies
Grati, Francesca Romana, Bajaj, Komal, Zanatta, Valentina, Malvestiti, Francesca, Malvestiti, Barbara, Marcato, Livia, Grimi, Beatrice, Maggi, Federico, Simoni, Giuseppe, Gross, Susan J., Ferreira, Jose
Published in Prenatal diagnosis (01.10.2017)
Published in Prenatal diagnosis (01.10.2017)
Get full text
Journal Article
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, Francesca R., Malvestiti, Francesca, Grimi, Beatrice, Gaetani, Elisa, Di Meco, Anna Maria, Trotta, Anna, Liuti, Rosaria, Chinetti, Sara, Dulcetti, Francesca, Ruggeri, Anna Maria, Agrati, Cristina, Frascoli, Giuditta, Milani, Silvia, De Toffol, Simona, Martinoni, Lorenza, Paganini, Silvia, Marcato, Livia, Maggi, Federico, Simoni, Giuseppe
Published in Prenatal diagnosis (01.05.2013)
Published in Prenatal diagnosis (01.05.2013)
Get full text
Journal Article
Recombinant Chromosome 4 from a Familial Pericentric Inversion : Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
Höller, Adelheid, Chinetti, Sara, De Toffol, Simona, Benedicenti, Francesco, Malvestiti, Francesca, Grimi, Beatrice, Fichtel, Gertrud, Braghetto, Monica, Agrati, Cristina, Bonaparte, Eleonora, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana
Published in Case reports in genetics (01.01.2013)
Published in Case reports in genetics (01.01.2013)
Get full text
Journal Article
Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis
Malvestiti, Francesca, Agrati, Cristina, Grimi, Beatrice, Pompilii, Eva, Izzi, Claudia, Martinoni, Lorenza, Gaetani, Elisa, Liuti, Maria Rosaria, Trotta, Anna, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana
Published in Prenatal diagnosis (01.11.2015)
Published in Prenatal diagnosis (01.11.2015)
Get full text
Journal Article
Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results
Grati, Francesca R., Malvestiti, Francesca, Ferreira, Jose C.P.B., Bajaj, Komal, Gaetani, Elisa, Agrati, Cristina, Grimi, Beatrice, Dulcetti, Francesca, Ruggeri, Anna M., De Toffol, Simona, Maggi, Federico, Wapner, Ronald, Gross, Susan, Simoni, Giuseppe
Published in Genetics in medicine (01.08.2014)
Published in Genetics in medicine (01.08.2014)
Get full text
Journal Article
Performance of conventional cytogenetic analysis on chorionic villi when only one cell layer, cytotrophoblast or mesenchyme alone, is analyzed
Grati, Francesca Romana, Malvestiti, Francesca, Gallazzi, Gloria, Saragozza, Silvia, Grimi, Beatrice, Agrati, Cristina, Branca, Lara, Palumbo, Federica, Trotta, Anna, Chinetti, Sara, Simoni, Giuseppe, Ferreira, Jose, Benn, Peter
Published in Prenatal diagnosis (01.05.2021)
Published in Prenatal diagnosis (01.05.2021)
Get full text
Journal Article
The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure
Grati, Francesca Romana, Bajaj, Komal, Malvestiti, Francesca, Agrati, Cristina, Grimi, Beatrice, Malvestiti, Barbara, Pompilii, Eva, Maggi, Federico, Gross, Susan, Simoni, Giuseppe, Ferreira, Jose Carlos P.
Published in Prenatal diagnosis (01.10.2015)
Published in Prenatal diagnosis (01.10.2015)
Get full text
Journal Article
eP486 - Misdiagnosis rate when conventional cytogenetic analysis on chorionic villi is performed on only one cell layer, cytotrophoblast or mesenchyme, alone
Grati, Francesca Romana, Malvestiti, Francesca, Gallazzi, Gloria, Saragozza, Silvia, Grimi, Beatrice, Agrati, Cristina, Branca, Lara, Palumbo, Federica, Trotta, Anna, Chinetti, Sara, Simoni, Giuseppe, Ferreira, Jose, Benn, Peter
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
Get full text
Journal Article
Misdiagnosis rate when conventional cytogenetic analysis on chorionic villi is performed on only one cell layer, cytotrophoblast or mesenchyme, alone
Grati, Francesca Romana, Malvestiti, Francesca, Gallazzi, Gloria, Saragozza, Silvia, Grimi, Beatrice, Agrati, Cristina, Branca, Lara, Palumbo, Federica, Trotta, Anna, Chinetti, Sara, Simoni, Giuseppe, Ferreira, Jose, Benn, Peter
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
Get full text
Journal Article
De novo small supernumerary marker chromosomes detected on 143 000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches
Malvestiti, Francesca, De Toffol, Simona, Grimi, Beatrice, Chinetti, Sara, Marcato, Livia, Agrati, Cristina, Di Meco, Anna Maria, Frascoli, Giuditta, Trotta, Anna, Malvestiti, Barbara, Ruggeri, Anna, Dulcetti, Francesca, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana
Published in Prenatal diagnosis (01.05.2014)
Published in Prenatal diagnosis (01.05.2014)
Get full text
Journal Article
Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories
Vialard, François, Simoni, Giuseppe, Gomes, Denise Molina, Abourra, Azzedine, De Toffol, Simona, Bru, Fabrice, Martinez Romero, Maria Carmen, Nitsch, Lucio, Bouhanna, Philippe, Marcato, Livia, Popowski, Thomas, Grimi, Beatrice, Martínez-Conejero, Jose Antonio, Benzacken, B, Genesio, Rita, Grati, Francesca R
Published in Prenatal diagnosis (01.04.2012)
Published in Prenatal diagnosis (01.04.2012)
Get full text
Journal Article
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, Francesca Romana, Malvestiti, Francesca, Grimi, Beatrice, Liuti, Rosaria, Agrati, Cristina, Gaetani, Elisa, Milani, Silvia, Martinoni, Lorenza, Zanatta, Valentina, Gallazzi, Gloria, Maggi, Federico, Simoni, Giuseppe
Published in Prenatal diagnosis (01.03.2015)
Published in Prenatal diagnosis (01.03.2015)
Get full text
Journal Article
Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis: Interpreting mosaicism in chorionic villi
Malvestiti, Francesca, Agrati, Cristina, Grimi, Beatrice, Pompilii, Eva, Izzi, Claudia, Martinoni, Lorenza, Gaetani, Elisa, Liuti, Maria Rosaria, Trotta, Anna, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana
Published in Prenatal diagnosis (01.11.2015)
Published in Prenatal diagnosis (01.11.2015)
Get full text
Journal Article
De novo small supernumerary marker chromosomes detected on 143000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches
Malvestiti, Francesca, De Toffol, Simona, Grimi, Beatrice, Chinetti, Sara, Marcato, Livia, Agrati, Cristina, Di Meco, Anna Maria, Frascoli, Giuditta, Trotta, Anna, Malvestiti, Barbara, Ruggeri, Anna, Dulcetti, Francesca, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana
Published in Prenatal diagnosis (01.05.2014)
Published in Prenatal diagnosis (01.05.2014)
Get full text
Journal Article
Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes
Grati, Francesca Romana, Barlocco, Andrea, Grimi, Beatrice, Milani, Silvia, Frascoli, Giuditta, Di Meco, Anna Maria, Liuti, Rosaria, Trotta, Anna, Chinetti, Sara, Dulcetti, Francesca, Ruggeri, Anna Maria, De Toffol, Simona, Clementi, Maurizio, Maggi, Federico, Simoni, Giuseppe
Published in American journal of medical genetics. Part A (01.06.2010)
Published in American journal of medical genetics. Part A (01.06.2010)
Get full text
Journal Article
In this Issue
Grati, Francesca R, Malvestiti, Francesca, Ferreira, Jose C.P.B, Bajaj, Komal, Gaetani, Elisa, Agrati, Cristina, Grimi, Beatrice, Dulcetti, Francesca, Ruggeri, Anna M, De Toffol, Simona, Maggi, Federico, Wapner, Ronald, Gross, Susan, Simoni, Giuseppe
Published in Genetics in medicine (01.08.2014)
Published in Genetics in medicine (01.08.2014)
Get full text
Journal Article
In this Issue
Grati, Francesca R., Malvestiti, Francesca, Ferreira, Jose C.P.B., Bajaj, Komal, Gaetani, Elisa, Agrati, Cristina, Grimi, Beatrice, Dulcetti, Francesca, Ruggeri, Anna M., De Toffol, Simona, Maggi, Federico, Wapner, Ronald, Gross, Susan, Simoni, Giuseppe
Published in Genetics in medicine (01.08.2014)
Published in Genetics in medicine (01.08.2014)
Get full text
Journal Article
De novo small supernumerary marker chromosomes detected on 143 000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches: De novo sSMC in prenatal diagnosis
Malvestiti, Francesca, De Toffol, Simona, Grimi, Beatrice, Chinetti, Sara, Marcato, Livia, Agrati, Cristina, Di Meco, Anna Maria, Frascoli, Giuditta, Trotta, Anna, Malvestiti, Barbara, Ruggeri, Anna, Dulcetti, Francesca, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana
Published in Prenatal diagnosis (01.05.2014)
Published in Prenatal diagnosis (01.05.2014)
Get full text
Journal Article
In this Issue
Grati, Francesca R., Malvestiti, Francesca, Ferreira, Jose C.P.B., Bajaj, Komal, Gaetani, Elisa, Agrati, Cristina, Grimi, Beatrice, Dulcetti, Francesca, Ruggeri, Anna M., De Toffol, Simona, Maggi, Federico, Wapner, Ronald, Gross, Susan, Simoni, Giuseppe
Published in Genetics in medicine (2014)
Published in Genetics in medicine (2014)
Get full text
Journal Article
Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi
GRATI, Francesca R, GRIMI, Beatrice, MAGGI, Federico, SIMONI, Giuseppe, FRASCOLI, Giuditia, DI MECO, Anna Maria, LIUTI, Rosaria, MILANI, Silvia, TROTTA, Anna, DULCETTI, Francesca, GROSSO, Enrico, MIOZZO, Monica
Published in European journal of human genetics : EJHG (01.03.2006)
Published in European journal of human genetics : EJHG (01.03.2006)
Get full text
Journal Article