Giuseppe Simoni
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Italian biologist
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Giuseppe Simonibiology Degrees
Biology
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Molecular Biology
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Biology
Giuseppe Simoni's Degrees
- Bachelors Biology University of Milan
- Masters Biotechnology University of Milan
- PhD Molecular Biology University of Bologna
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Why Is Giuseppe Simoni Influential?
(Suggest an Edit or Addition)According to Wikipedia, Giuseppe Simoni is an Italian biologist and scientist. He was born in Pavia, Italy in 1944, and obtained his degree in biology at the University of Milan, where he later became a professor of genetics and biology for thirteen years.
Giuseppe Simoni's Published Works
Published Works
- Frequency of monosomy X in women with primary biliary cirrhosis (2004) (256)
- Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies (2015) (222)
- X Chromosome Monosomy: A Common Mechanism for Autoimmune Diseases1 (2005) (184)
- Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results (2014) (183)
- Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy (2004) (124)
- Prevalence and distribution of chromosome abnormalities in a sample of first trimester internal abortions. (1987) (117)
- The Role of Imprinted Genes in Fetal Growth (2002) (114)
- Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow‐up amniocentesis (2015) (113)
- Fertility in a 47,XXY patient: assessment of biological paternity by deoxyribonucleic acid fingerprinting. (1992) (105)
- Loss of the inactive X chromosome and replication of the active X in BRCA1-defective and wild-type breast cancer cells. (2005) (99)
- An evidence-based scoring system for prioritizing mosaic aneuploid embryos following preimplantation genetic screening. (2018) (82)
- Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: Efficiency, reliability, and risks on 317 completed pregnancies (1992) (82)
- DIAGNOSIS OF FETAL TRISOMY 21 IN FIRST TRIMESTER (1983) (79)
- Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi (2006) (76)
- Blood fetal microchimerism in primary biliary cirrhosis (2000) (75)
- Presence of fetal DNA in maternal plasma decades after pregnancy (2002) (74)
- Discordance Between Prenatal Cytogenetic Diagnosis after Chorionic Villi Sampling and Chromosomal Constitution of the Fetus (1985) (71)
- First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases. (1985) (69)
- First Trimester Fetal Diagnosis (1985) (68)
- Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 (2012) (64)
- The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families (2004) (64)
- The type of feto‐placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure (2015) (61)
- Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA (2019) (58)
- FETAL CHROMOSOMAL ANEUPLOIDIES AND MATERNAL SERUM ALPHA-FETOPROTEIN LEVELS IN FIRST TRIMESTER (1986) (52)
- Prenatal BACs‐on‐Beads™: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis (2011) (52)
- Chromosomal mosaicism in the fetoplacental unit. (2017) (46)
- Chromosome abnormalities investigated by non‐invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes (2010) (46)
- Prenatal BACs‐on‐BeadsTM: the prospective experience of five prenatal diagnosis laboratories (2012) (45)
- Multiple clonal chromosome abnormalities in Peyronie's disease. (1991) (40)
- Rare autosomal trisomies: comparison of detection through cell‐free DNA analysis and direct chromosome preparation of chorionic villus samples (2019) (39)
- Fetal mesenchymal stromal cells from cryopreserved human chorionic villi: cytogenetic and molecular analysis of genome stability in long-term cultures. (2013) (39)
- HIV‐1 proviral DNA polymerase chain reaction detection in chorionic villi after exclusion of maternal contamination by variable number of tandem repeats analysis (1996) (37)
- First‐trimester genetic diagnosis in multiple pregnancy: Principles and potential pitfalls (1991) (37)
- Loss of heterozygosity on chromosome 4q32–35 in sporadic basal cell carcinomas: evidence for the involvement of p33ING2/ING1L and SAP30 genes (2004) (36)
- Griseofulvin: a potential agent of chromosomal segregation in cultured cells. (1974) (34)
- Confined placental mosaicism (1994) (33)
- Trisomic 22 placenta in a case of severe intrauterine growth retardation (1989) (33)
- Detection of human immunodeficiency virus-1 RNA and DNA by extractive and in situ PCR in unprocessed semen and seminal fractions isolated by semen-washing procedure. (2006) (29)
- Losses of heterozygosity in oral and oropharyngeal epithelial carcinomas. (2000) (28)
- Implications of fetoplacental mosaicism on cell‐free DNA testing for sex chromosome aneuploidies (2017) (28)
- Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations (2004) (27)
- ESX1 gene expression as a robust marker of residual spermatogenesis in azoospermic men. (2010) (26)
- Frequency of fetal karyotype abnormalities in women undergoing invasive testing in the absence of ultrasound and other high‐risk indications (2016) (26)
- Losses of heterozygosity in endometrial adenocarcinomas: positive correlations with histopathological parameters. (2000) (24)
- Three cases with de novo 6q imbalance and variable prenatal phenotype (2005) (24)
- Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype‐genotype correlations (2015) (24)
- First‐trimester prenatal diagnosis of Roberts syndrome (1992) (22)
- Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression. (2001) (22)
- Application of a new molecular technique for the genetic evaluation of products of conception (2013) (21)
- Cytogenetic abnormalities and microsatellite instability in endometrial adenocarcinoma. (1997) (21)
- First trimester fetal karyotyping: one thousand diagnoses (1986) (20)
- Fetal and placental chromosomal mosaicism revealed by QF-PCR in severe IUGR pregnancies. (2005) (20)
- First trimester fetal karyotyping in twin pregnancy. (1984) (19)
- Biparental expression of ESX1L gene in placentas from normal and intrauterine growth-restricted pregnancies (2004) (19)
- De novo small supernumerary marker chromosomes detected on 143 000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches (2014) (19)
- Loss of heterozygosity of the NOS3 dinucleotide repeat marker in atherosclerotic plaques of human carotid arteries. (2001) (19)
- 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 (2013) (18)
- Not so inefficient reproduction (2000) (18)
- Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome (2007) (18)
- SCE analysis in children exposed to lead emission from a smelting plant. (1983) (18)
- Seven cases of trisomy 3 mosaicism in chorionic villi (1989) (17)
- Diagnostic application of first trimester trophoblast sampling in 100 pregnancies (2004) (17)
- Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism (1998) (16)
- Presence of fetal DNA in maternal plasma decades after pregnancy: further comments (2002) (15)
- Pericentric inversion of chromosome 9 in couples with repeated spontaneous abortion. (1981) (15)
- Does confined placental mosaicism affect the fetus? (1992) (15)
- A rare non‐heterochromatic 9p+ variant in two amniotic fluid cell cultures (1984) (15)
- Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment (2004) (15)
- Cytogenetic abnormalities detected by direct analysis in a case of choriocarcinoma. (1993) (14)
- Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome (2014) (14)
- Genetic diagnosis before the eighth gestational week. (1991) (13)
- Selective reduction of quadruplet pregnancy at risk of β-thalassaemia (1990) (13)
- 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) (2009) (12)
- Direct chromosome preparation and culture using chorionic villi: an evaluation of the two techniques. (1990) (12)
- Rare autosomal trisomies (RATs): a comparison of the detection through cell-free DNA and chorionic villus sampling. (2019) (12)
- Sister chromatid exchanges in first‐trimester chorionic villi after in vivo and in vitro exposure to diagnostic ultrasound (1990) (11)
- Cytogenetics of Chorionic Villi Sampling: Technical Developments and Diagnostic Applications (1985) (11)
- Localization of ribosomal RNA genes on human acrocentric chromosomes (1973) (10)
- Cyclophosphamide increases the frequency of sister chromatid exchange in direct preparations of human chorionic villi in the absence of supplementary enzymatic activation systems. (1992) (10)
- FIRST‐TRIMESTER CHROMOSOME DIAGNOSIS BY LAVAGE OF THE UTERINE CAVITY (1996) (10)
- First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B (1988) (9)
- Trisomy 16 confined to chorionic villi and unfavourable outcome of pregnancy. (1992) (9)
- The amniotic fluid-derived cells: the biomedical challenge for the third millennium. (2009) (9)
- First-trimester human trophoblast is class II major histocompatibility complex mRNA+/antigen. (1994) (8)
- A family with three sibs carrying trisomy 21. (1975) (8)
- Spontaneous and griseofulvin-induced segregation for 8-azaguanine resistance in hybrids from a human heteroploid line. (1979) (8)
- Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunction (1989) (8)
- Heterokaryon formation between alkaline phosphatase variants in a human heteroploid cell line. (1970) (8)
- Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes (2013) (8)
- False‐positive and false‐negative findings on chorionic villus sampling (1987) (8)
- Reproductive failure and parental chromosome abnormalities. (1986) (8)
- Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype (1994) (8)
- Ring chromosome 10 Associated with multiple congenital malformations (1979) (8)
- [Partial trisomy 9q: comparison of the syndrome in 2 sisters]. (1986) (8)
- 47,XXX chromosome constitution in a male. (1980) (7)
- Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study (2004) (6)
- The offspring of marriage between two first cousins with the same reciprocal translocation t(2;7)(p11;q31) (2004) (6)
- PRENATAL DIAGNOSIS AT 6 WEEKS (1988) (6)
- 12q13 fragility in a family with recurrent spontaneous abortions: expression of the fragile site under different culture conditions. (1990) (5)
- In vitro spontaneous malignant transformation in monocytic cell lines from patients with congenital hypoplastic anemia. (1987) (5)
- 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? (2015) (5)
- Prenatal diagnosis of metabolic diseases on chorionic villi obtained before the ninth week of pregnancy (1992) (5)
- Chromosome Study of Chorionic Villi After Short-Term Incubation: Diagnostic and Experimental Applications (1987) (5)
- Applicability of DNA isolated from syncytiotrophoblast vesicles to gene amplification and molecular analysis (1993) (5)
- ANTENATAL SEX DETERMINATION (1984) (5)
- True fetal mosaicism revealed by a single abnormal colony in amniocyte culture (1990) (4)
- Prenatal detection by subtelomeric FISH and MLPA of unbalanced meiotic recombinants resulting from parental pericentric inversions. (2008) (4)
- Routine chromosome analysis on fetal blood microaliquots obtained at fetoscopy (1983) (4)
- Risk of Fetal Loss in Pregnancies Undergoing Midtrimester Amniocentesis after Inconclusive Chorionic Villus Sampling (2018) (4)
- Internalization of nanopolymeric tracers does not alter characteristics of placental cells (2016) (4)
- Absence of detectable maternal DNA and identification of proviral HIV in the cord blood of two infants who became HIV-infected. (1997) (3)
- Effect of griseofulvin on chromosomal complements of human diploid and heteroploid cell cultures (1973) (3)
- First-Trimester Fetal Karyotyping by Direct Method (1986) (3)
- Performance of conventional cytogenetic analysis on chorionic villi when only one cell layer, cytotrophoblast or mesenchyme alone, is analyzed (2021) (3)
- Deviant karyotypes in amniotic fluid cell cultures: a problem in prenatal diagnosis. (1975) (3)
- Noninvasive Prenatal Testing by Cell-Free DNA: Technology, Biology, Clinical Utility, and Limitations (2019) (3)
- A woman carrier of two apparently unrelated reciprocal translocations (1979) (3)
- Highly sensitive chemiluminescent method for the detection of cell contamination. (1998) (2)
- A pharmacogenetic-driven approach for controlled ovarian hyperstimulation by FSH treatment. (2014) (2)
- Unexpected results of non‐invasive prenatal testing: are they all so unexpected? (2016) (2)
- Session 6. Prenatal diagnosis (1990) (2)
- Prenatal diagnosis of del(4)(q27q31.23), due to a maternal balanced complex chromosome rearrangement, characterized by array‐CGH (2010) (2)
- Response: scoring of mosaic embryos after preimplantation genetic testing - the rollercoaster ride between fear, hope and embryo wastage. (2018) (2)
- Frequency of chromosomal aberrations after exposure to γ-radiation of human chorionic villi (1993) (2)
- Maternal metaphases on direct preparation from chorionic villi and in cultures of villi cells (2004) (2)
- Induced heteroploidy and cell transformation (1976) (2)
- First-trimester Genetic Diagnosis in Multiple Pregnancy: Principles and Potential Pitfalls (1992) (2)
- A 3/4 reciprocal translocation in two unrelated families (1977) (1)
- 3 Enhanced X chromosome monosomy in peripheral blood lymphocytes from patients with primary biliary cirrhosis: A clue for etiopathogenesis? (2003) (1)
- Detection of aneuploid cells in fibroblast cultures from the father of two trisomy 21 patients. (1976) (1)
- Detection of maternal DNA in cord blood at birth after elective caesarean section or vaginal delivery. (2000) (1)
- Chromosome lesions in amniotic fluid cell cultures (1979) (1)
- Chromosome changes in human monocytic cell lines with in vitro spontaneous malignant transformation (1986) (1)
- Absence of detectable maternal DNA and identification of proviral HIV in the cord blood of two infants who became HIV-infected. (1997) (1)
- Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. (2010) (1)
- Selective reduction of quadruplet pregnancy at risk of beta-thalassaemia. (1990) (1)
- Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia (2014) (1)
- Frequency of chromosomal aberrations after exposure to gamma-radiation of human chorionic villi. (1993) (1)
- Heterogeneous Expression of Myelo-Monocytic Markers on Selected Non-Lymphoid Cells (1986) (1)
- First trimester fetal karyotyping using chorionic villi: technical development and diagnostic application (1986) (1)
- Response: how PGS/PGT-A laboratories succeeded in losing all credibility. (2018) (1)
- INVESTIGATION OF CFTR ESONIC REARRANGEMENTS IN INFERTILE COUPLES (2008) (0)
- Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA (2019) (0)
- Prenatal diagnosis by trophoblast sampling (2004) (0)
- Reply (2012) (0)
- Isolation and Characterization of Mesenchymal Stem Cells from Amniotic Fluid and Chorionic Villi (2011) (0)
- 857: Third trimester amniotic fluid as source of mesenchymal stem cells for regenerative applications (2011) (0)
- [Longitudinal study of 10 subjects with structural anomalies of chromosome X]. (1984) (0)
- [Culture of amniotic fluid cells in a semisynthetic medium (Chang medium)]. (1983) (0)
- [The syndrome of the "XX male"]. (1978) (0)
- Misdiagnosis rate when conventional cytogenetic analysis on chorionic villi is performed on only one cell layer, cytotrophoblast or mesenchyme, alone (2021) (0)
- Enhanced rate of monosomy X in circulating T and B lymphocytes from patients with primary biliary cirrhosis: A study of blood cell subpopulations (2003) (0)
- Aneuploid correction and confined placental mosaicism. (1996) (0)
- Chromosome changes in cultured human myeloid cell lines. (1987) (0)
- First-trimester fetal karyotyping by direct method. Technical and diagnostic problems. (1986) (0)
- 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” (2013) (0)
- Unusual Detection of Lathosterol in Amniotic Fluids Investigated for the Determination of Cholesterol and 7-Dehydrocholesterol for Suspected Smith-Lemli-Opitz Syndrome (2014) (0)
- PostersReproductive Genetics (PGD/PGS) (2010) (0)
- Chromosome 9 aberrations in laryngeal carcinoma: A cytogenetic and molecular study of seven cases (1996) (0)
- In this issue (2003) (0)
- P20.10: Risk of fetal loss in pregnancies undergoing mid‐trimester amniocentesis after inconclusive chorionic villus sampling (2018) (0)
- Extravillus dividing fetal cells at CVS: evidence of their erythroblastic origin. (1992) (0)
- Cytogenetics of placenta--a workshop report. (2002) (0)
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