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1

Human Reproductive and Prenatal Genetics || Noninvasive Prenatal Testing by Cell-Free DNA: Technology, Biology, Clinical Utility, and Limitations

Grati, Francesca Romana

Year:

2019

Language:

english

File:

PDF, 349 KB

english, 2019

2

Response: scoring of mosaic embryos after preimplantation genetic testing – the rollercoaster ride between fear, hope and embryo wastage

Grati, Francesca Romana, Gallazzi, Gloria, Branca, Lara, Maggi, Federico, Simoni, Giuseppe, Yaron, Yuval

Journal:

Reproductive BioMedicine Online

Year:

2018

Language:

english

File:

PDF, 207 KB

english, 2018

3

Aneuploidy in first trimester chorionic villi and spontaneous abortions: windows into the origin and fate of aneuploidy through embryonic and fetal development

Benn, Peter, Grati, Francesca Romana

Journal:

Prenatal Diagnosis

Year:

2020

File:

PDF, 1021 KB

2020

4

Fetal mesenchymal stromal cells from cryopreserved human chorionic villi: cytogenetic and molecular analysis of genome stability in long-term cultures

Roselli, Emanuela Anna, Lazzati, Silvia, Iseppon, Federico, Manganini, Massimiliano, Marcato, Livia, Gariboldi, Marzia Bruna, Maggi, Federico, Grati, Francesca Romana, Simoni, Giuseppe

Journal:

Year:

2013

Language:

english

File:

PDF, 1.80 MB

english, 2013

5

Loss of heterozygosity on chromosome 4q32–35 in sporadic basal cell carcinomas: evidence for the involvement of p33ING2/ING1L and SAP30 genes

Elena Sironi, Amilcare Cerri, Dario Tomasini, Silvia Maria Sirchia, Giovanni Porta, Franca Rossella, Francesca Romana Grati, Giuseppe Simoni

Journal:

Journal of Cutaneous Pathology

Year:

2004

Language:

english

File:

PDF, 131 KB

english, 2004

6

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 Car

Journal:

Prenatal Diagnosis

Year:

2015

Language:

english

File:

PDF, 84 KB

english, 2015

7

No test result rate of cfDNA analysis and its influence on test performance metrics

Grati, Francesca Romana, Kagan, Karl Oliver

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2016

Language:

english

File:

PDF, 1.05 MB

english, 2016

8

Response to Sistermans et al.

Benn, Peter, Grati, Francesca Romana, Ferreira, Jose

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 237 KB

english, 2019

9

Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes

Francesca Romana Grati, Andrea Barlocco, Beatrice Grimi, Silvia Milani, Giuditta Frascoli, Anna Maria Di Meco, Rosaria Liuti, Anna Trotta, Sara Chinetti, Francesca Dulcetti, Anna Maria Ruggeri, Simona

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 219 KB

english, 2010

10

Prenatal diagnosis of del(4)(q27q31.23), due to a maternal balanced complex chromosome rearrangement, characterized by array-CGH

Francesca Malvestiti, Simona De Toffol, Sara Chinetti, Beatrice Grimi, Giancarlo Favero, Alessandro Borsatti, Federico Maggi, Giuseppe Simoni, Francesca Romana Grati

Journal:

Prenatal Diagnosis

Year:

2010

Language:

english

File:

PDF, 2.33 MB

english, 2010

11

Implications of feto-placental mosaicism on cell-free DNA testing: a review of a common biological phenomenon

Grati, Francesca Romana

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2016

Language:

english

File:

PDF, 1.49 MB

english, 2016

12

Comment on “The clinical utility of genome-wide non invasive prenatal screening”

Grati, Francesca Romana, Benn, Peter

Journal:

Prenatal Diagnosis

Year:

2017

Language:

english

File:

PDF, 99 KB

english, 2017

13

Rare autosomal trisomies (RATs): a comparison of the detection through cell-free DNA and chorionic villus sampling

Benn, Peter, Malvestiti, Francesca, Grimi, Beatrice, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2019

File:

PDF, 1.77 MB

2019

14

Outcomes in Pregnancies With a Confined Placental Mosaicism and Implications for Prenatal Screening Using Cell-Free DNA

Grati, Francesca Romana, Ferreira, Jose, Benn, Peter, Izzi, Claudia, Verdi, Federica, Vercellotti, Elena, Dalpiaz, Cristina, DâAjello, Patrizia, Filippi, Elisa, Volpe, Nicola, Malvestiti, Francesca,

Journal:

Obstetric and Gynecologic Survey

Year:

2020

File:

PDF, 104 KB

2020

15

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

Gervasini, Cristina, Grati, Francesca Romana, Lalatta, Faustina, Tabano, Silvia, Gentilin, Barbara, Colapietro, Patrizia, De Toffol, Simona, Frontino, Giada, Motta, Francesca, Maitz, Silvia, Bernardin

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 861 KB

english, 2010

16

An evidence-based scoring system for prioritizing mosaic aneuploid embryos following preimplantation genetic screening

Grati, Francesca Romana, Gallazzi, Gloria, Branca, Lara, Maggi, Federico, Simoni, Giuseppe, Yaron, Yuval

Journal:

Reproductive BioMedicine Online

Year:

2018

Language:

english

File:

PDF, 553 KB

english, 2018

17

Pregnancy on dialysis and with a failing kidney graft: a double challenge for non‐invasive prenatal testing

Attini, Rossella, Grati, Francesca Romana, Menato, Guido, Todros, Tullia, Colla, Loredana, Rossetti, Maura, Malvestiti, Barbara, Alemanno, Maria Grazia, Masturzo, Bianca, Piccoli, Giorgina Barbara, Vi

Journal:

Prenatal Diagnosis

Year:

2020

File:

PDF, 198 KB

2020

18

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations

Dupont, Céline, Grati, Francesca Romana, Choy, Kwong Wai, Jaillard, Sylvie, Toutain, Jérôme, Maurin, Marie-Laure, Martínez-Conejero, Jose Antonio, Beneteau, Claire, Coussement, Aurélie, Molina-Gomes,

Journal:

Prenatal Diagnosis

Year:

2015

Language:

english

File:

PDF, 618 KB

english, 2015

19

Genome-wide non-invasive prenatal screening for all cytogenetically visible imbalances

Benn, Peter, Grati, Francesca Romana

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2018

Language:

english

File:

PDF, 1.32 MB

english, 2018

20

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, Fede

Journal:

Prenatal Diagnosis

Year:

2015

Language:

english

File:

PDF, 55 KB

english, 2015

21

Risk of Fetal Loss in Pregnancies Undergoing Midtrimester Amniocentesis after Inconclusive Chorionic Villus Sampling

Salsi, Ginevra, Grati, Francesca Romana, Bellussi, Federica, Pompilii, Eva, Maggi, Federico, Simoni, Giuseppe, D’Ambrosi, Francesco, Orsi, Michele, Gentile, Mattia, Rembouskos, Georgios, Zuliani, Gugl

Journal:

Fetal Diagnosis and Therapy

Year:

2018

Language:

english

File:

PDF, 120 KB

english, 2018

22

An Evidence-Based Scoring System for Prioritizing Mosaic Aneuploid Embryos Following Preimplantation Genetic Screening

Romana Grati, Francesca, Gallazzi, Gloria, Branca, Lara, Maggi, Federico, Simoni, Giuseppe, Yaron, Yuval

Journal:

Obstetric and Gynecologic Survey

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

23

Confirmation rate of cell free DNA screening for sex chromosomal abnormalities according to the method of confirmatory testing

LÃ¼thgens, Kai, Grati, Francesca Romana, Sinzel, Monika, Haebig, Karina, Kagan, Karl Oliver

Journal:

Prenatal Diagnosis

Year:

2020

File:

PDF, 948 KB

2020

24

Response: how PGS/PGT-A laboratories succeeded in losing all credibility

Grati, Francesca Romana, Gallazzi, Gloria, Branca, Lara, Maggi, Federico, Simoni, Giuseppe, Yaron, Yuval

Journal:

Reproductive BioMedicine Online

Year:

2018

Language:

english

File:

PDF, 232 KB

english, 2018

25

Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA

Grati, Francesca Romana, Ferreira, Jose, Benn, Peter, Izzi, Claudia, Verdi, Federica, Vercellotti, Elena, Dalpiaz, Cristina, D’Ajello, Patrizia, Filippi, Elisa, Volpe, Nicola, Malvestiti, Francesca, M

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 505 KB

english, 2019

26

Variable Expressivity of HNF1B-Nephropathy From Renal Cysts and Diabetes to Medullary Sponge Kidney through Tubulo-Interstitial Kidney Disease.

IZZI, Claudia, DORDONI, Chiara, ECONIMO, Laura, DELBARBA, Elisa, Romana GRATI, Francesca, MARTIN, Eva, MAZZA, Cinzia, SAVOLDI, Gianfranco, RAMPOLDI, Luca, ALBERICI, Federico, SCOLARI, Francesco

Journal:

Kidney International Reports

Year:

2020

File:

PDF, 14.92 MB

2020

27

Chromosomal mosaicism in the fetoplacental unit

Grati, Francesca Romana, Malvestiti, Francesca, Branca, Lara, Agrati, Cristina, Maggi, Federico, Simoni, Giuseppe

Journal:

Best Practice & Research Clinical Obstetrics & Gynaecology

Year:

2017

Language:

english

File:

PDF, 499 KB

english, 2017

28

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, Jo

Journal:

Prenatal Diagnosis

Year:

2017

Language:

english

File:

PDF, 1012 KB

english, 2017

29

Noninvasive screening by cell-free DNA for 22q11.2 deletion: Benefits, limitations, and challenges

Grati, Francesca Romana, Gross, Susan J.

Journal:

Prenatal Diagnosis

Year:

2019

Language:

english

File:

PDF, 721 KB

english, 2019

30

Response to Toutain et al.

Benn, Peter, Ferreira, Jose, Grati, Francesca Romana

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 263 KB

english, 2019

31

Quantitative Fluorescence-Polymerase Chain Reaction Assay for the Detection of the Duplication of the Charcot Marie Tooth Disease Type 1A Critical Region

De Toffol, Simona, Bellone, Emilia, Dulcetti, Francesca, Ruggeri, Anna Maria, Maggio, Pietro Paolo, Pulimeno, Maria Rosaria, Mandich, Paola, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 804 KB

english, 2010

32

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Grati, Francesca Romana, Molina Gomes, Denise, Ferreira, Jose Carlos Pinto B., Dupont, Celine, Alesi, Viola, Gouas, Laetitia, Horelli-Kuitunen, Nina, Choy, Kwong Wai, García-Herrero, Sandra, de la Veg

Journal:

Prenatal Diagnosis

Year:

2015

Language:

english

File:

PDF, 364 KB

english, 2015

33

Rare autosomal trisomies (RATs): a comparison of the detection through cell-free DNA and chorionic villus sampling

Benn, Peter, Malvestiti, Francesca, Grimi, Beatrice, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2019

Language:

english

File:

PDF, 1.77 MB

english, 2019

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