F. Grati

K. Kagan, F. Grati, 2017, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease

F. Scolari, C. Izzi, F. Grati, 2020, Kidney international reports.

This information is current as Mechanism for Autoimmune Diseases X Chromosome Monosomy : A Common

Guido De Simoni, Marcus John Beasley, C. Selmi, 2005 .

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

M. Clementi, G. Simoni, S. De Toffol, 2010, American journal of medical genetics. Part A.

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

G. Simoni, S. De Toffol, B. Grimi, 2010, Prenatal diagnosis.

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

L. Laurino, N. Surico, M. Miozzo, 2007, Journal of Medical Genetics.

Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction

I. Cetin, M. Miozzo, L. Larizza, 2010, Epigenetics.

Internalization of nanopolymeric tracers does not alter characteristics of placental cells

M. Salmona, C. Balducci, O. Parolini, 2016, Journal of cellular and molecular medicine.

Bovine fetal microchimerism in normal and embryo transfer pregnancies and its implications for biotechnology applications in cattle

G. Laible, F. Grati, P. Invernizzi, 2007, Biotechnology journal.

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

G. Rembouskos, G. Pilu, P. Volpe, 2018, Fetal Diagnosis and Therapy.

Performance of a targeted cell‐free DNA prenatal test for 22q11.2 deletion in a large clinical cohort

R. Stokowski, R. Chaoui, T. Ko, 2021, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

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

C. Izzi, F. Prefumo, T. Ghi, 2019, Genetics in Medicine.

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

K. Choy, J. Toutain, C. Bénéteau, 2015, Prenatal diagnosis.

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

Federico Iseppon, M. Gariboldi, G. Simoni, 2013, Cytotherapy.

Cryptic 13q34 and 4q35.2 Deletions in an Italian Family

L. Garavelli, T. Neri, F. Riccardi, 2015, Cytogenetic and Genome Research.

Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia

M. Oggionni, G. Simoni, B. Grimi, 2014, Case reports in genetics.

De novo small supernumerary marker chromosomes detected on 143 000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches

G. Simoni, S. De Toffol, L. Marcato, 2014, Prenatal diagnosis.

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

F. Benedicenti, G. Simoni, S. De Toffol, 2013, Case reports in genetics.

Patient experience with non-invasive prenatal testing (NIPT) as a primary screen for aneuploidy in the Netherlands

C. Bilardo, F. Grati, K. White, 2022, BMC Pregnancy and Childbirth.

Prenatal BACs‐on‐BeadsTM: the prospective experience of five prenatal diagnosis laboratories

F. Vialard, R. Genesio, L. Nitsch, 2012, Prenatal diagnosis.

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)

Sarah B. Emery, A. Selicorni, G. Simoni, 2009, American journal of medical genetics. Part A.

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

F. Grati, P. Benn, 2017, Prenatal diagnosis.

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

D. Tomasini, A. Cerri, G. Simoni, 2004, Journal of cutaneous pathology.

Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

F. Grati, 2014, Journal of clinical medicine.

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

G. Piccoli, T. Todros, F. Grati, 2020, Prenatal diagnosis.

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

C. Izzi, G. Simoni, B. Grimi, 2015, Prenatal diagnosis.

Loss of the inactive X chromosome and replication of the active X in BRCA1-defective and wild-type breast cancer cells.

D. Coradini, P. Radice, M. Miozzo, 2005, Cancer research.

Loss of heterozygosity of the NOS3 dinucleotide repeat marker in atherosclerotic plaques of human carotid arteries.

R. Scorza, G. Simoni, F. Grati, 2001, Atherosclerosis.

Losses of heterozygosity in endometrial adenocarcinomas: positive correlations with histopathological parameters.

G. Pardi, S. Garsia, I. Garagiola, 2000, Cancer genetics and cytogenetics.

Losses of heterozygosity in oral and oropharyngeal epithelial carcinomas.

R. Brusati, A. Bozzetti, I. Garagiola, 2000, Cancer genetics and cytogenetics.

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

G. Pardi, I. Cetin, M. Miozzo, 2001, Placenta.

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

A. Bassett, B. Marino, E. Boot, 2023, Genes.

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

K. Choy, T. Leung, A. Novelli, 2015, Prenatal diagnosis.

Placental IGF2 expression in normal and intrauterine growth restricted (IUGR) pregnancies.

I. Cetin, M. Miozzo, F. Grati, 2008, Placenta.

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011

L. Bernardini, A. Novelli, O. Zuffardi, 2012, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

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

M. Miozzo, G. Simoni, B. Grimi, 2006, European Journal of Human Genetics.

Fetal and placental chromosomal mosaicism revealed by QF-PCR in severe IUGR pregnancies.

I. Cetin, M. Miozzo, G. Simoni, 2005, Placenta.

ESX1 gene expression as a robust marker of residual spermatogenesis in azoospermic men.

M. Miozzo, G. Simoni, F. Grati, 2010, Human reproduction.

Biparental expression of ESX1L gene in placentas from normal and intrauterine growth-restricted pregnancies

I. Cetin, M. Miozzo, G. Simoni, 2004, European Journal of Human Genetics.

Response to Sistermans et al.

F. Grati, P. Benn, Jose Ferreira, 2019, Genetics in Medicine.

Response to Toutain et al.

F. Grati, J. Ferreira, P. Benn, 2019, Genetics in Medicine.

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

G. Simoni, B. Grimi, F. Maggi, 2019, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Chromosomal mosaicism in the fetoplacental unit.

G. Simoni, F. Maggi, F. Grati, 2017, Best practice & research. Clinical obstetrics & gynaecology.

Performance of conventional cytogenetic analysis on chorionic villi when only one cell layer, cytotrophoblast or mesenchyme alone, is analyzed

G. Simoni, B. Grimi, F. Grati, 2021, Prenatal diagnosis.

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

F. Natacci, M. Miozzo, G. Simoni, 2004, Prenatal diagnosis.

Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis

B. Levy, F. Grati, E. Hoffman, 2021, Prenatal diagnosis.

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

Y. Yaron, G. Simoni, F. Maggi, 2018, Reproductive biomedicine online.

Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results

G. Simoni, B. Grimi, E. Gaetani, 2014, Genetics in Medicine.

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

G. Simoni, S. De Toffol, L. Marcato, 2013, Prenatal diagnosis.

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

F. Grati, P. Benn, 2020, Prenatal diagnosis.

The type of feto‐placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure

G. Simoni, B. Grimi, F. Maggi, 2015, Prenatal diagnosis.

Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

F. Vialard, G. Pilu, G. Simoni, 2014, Clinical case reports.

X chromosome inactivation pattern in BRCA gene mutation carriers.

P. Radice, S. Manoukian, V. Pensotti, 2013, European journal of cancer.

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

K. Kagan, F. Grati, K. Lüthgens, 2020, Prenatal diagnosis.

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

L. Fedele, B. Dallapiccola, L. Bernardini, 2010, Genetics in Medicine.

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

F. Grati, P. Benn, 2018, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Implications of fetoplacental mosaicism on cell‐free DNA testing: a review of a common biological phenomenon

F. Grati, 2016, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Unexpected results of non‐invasive prenatal testing: are they all so unexpected?

G. Simoni, F. Maggi, F. Grati, 2016, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Three cases with de novo 6q imbalance and variable prenatal phenotype

R. Tenconi, I. Cetin, F. Lalatta, 2005, American journal of medical genetics. Part A.

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

E. Bellone, P. Mandich, G. Simoni, 2010, Genetic testing and molecular biomarkers.

Frequency of fetal karyotype abnormalities in women undergoing invasive testing in the absence of ultrasound and other high‐risk indications

G. Simoni, F. Maggi, F. Grati, 2016, Prenatal diagnosis.

Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA.

F. Grati, K. Bajaj, J. Ferreira, 2014, American journal of obstetrics and gynecology.

F. Grati, M. Schmid, J. Jani, 2021, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

First Trimester Screening for Common Trisomies and Microdeletion 22q11.2 Syndrome Using Cell-Free DNA: A Prospective Clinical Study

K. Kagan, M. Hoopmann, A. Dufke, 2020, Fetal Diagnosis and Therapy.

Highly sensitive chemiluminescent method for the detection of cell contamination.

I. Garagiola, G. Simoni, F. Grati, 1998, Journal of bioluminescence and chemiluminescence.

Placental LPL Gene Expression Is Increased in Severe Intrauterine Growth-Restricted Pregnancies

I. Cetin, M. Miozzo, F. Grati, 2006, Pediatric Research.

Implications of fetoplacental mosaicism on cell‐free DNA testing for sex chromosome aneuploidies

G. Simoni, L. Marcato, B. Grimi, 2017, Prenatal diagnosis.

Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)

P. Gasparini, L. Bernardini, A. Novelli, 2022, Prenatal diagnosis.

Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling

P. Ricciardi-Castagnoli, T. Musci, E. Ferrazzi, 2022, Prenatal diagnosis.

Fetal Microchimerism in Normal and Embryo Transfer Bovine Pregnancies

G. Laible, F. Grati, P. Invernizzi, 2007, Veterinary Research Communications.

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

Y. Yaron, G. Simoni, F. Maggi, 2018, Reproductive biomedicine online.

Incidence of sex chromosome aneuploidy in Northern Italy: 27-year longitudinal study.

A. Gropman, B. Grimi, F. Grati, 2023, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.