Výsledky vyhledávání - "Cristina Agrati"

Akademický článek

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

Autor: Francesca Malvestiti, Francesco Benedicenti, Simona De Toffol, Sara Chinetti, Adelheid Höller, Beatrice Grimi, Gertrud Fichtel, Monica Braghetto, Cristina Agrati, Eleonora Bonaparte, Federico Maggi, Giuseppe Simoni, Francesca Romana Grati

Publikováno v: Case Reports in Genetics, Vol 2013 (2013)

Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by

Externí odkaz: https://doaj.org/article/d91cd6b8cc794080b801e21e87e8f322

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

Autor: Beatrice Grimi, Francesca Romana Grati, Anna Trotta, Cristina Agrati, Peter Benn, Federica Palumbo, Gloria Gallazzi, Jose Ferreira, Silvia Saragozza, Lara Branca, Giuseppe Simoni, Francesca Malvestiti, Sara Chinetti

Publikováno v: Prenatal Diagnosis. 41:652-660

OBJECTIVE To provide an estimation of the probability of error when chorionic villi (CV) cytogenetic analysis is limited to a single placental layer; either a direct preparation (Dir) or long-term culture (LTC). METHODS We retrospectively reviewed cy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffeedd841de98920752a97fdd9a2dbc3
https://doi.org/10.1002/pd.5941

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Chromosomal mosaicism in the fetoplacental unit

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

Publikováno v: Best Practice & Research Clinical Obstetrics & Gynaecology. 42:39-52

Cytogenetic prenatal diagnosis on chorionic villi (CV) can be complicated by the detection of "chromosomal mosaicism." This is one of the main issues of first-trimester cytogenetic prenatal diagnosis as it can involve different types of chromosomal a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b7fc1fe3d24db3707adb9a23b7cfbfc
https://doi.org/10.1016/j.bpobgyn.2017.02.004

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

Autor: Francesca Malvestiti, Maria Rosaria Liuti, Beatrice Grimi, Elisa Gaetani, Cristina Agrati, Federico Maggi, Giuseppe Simoni, Anna Trotta, Francesca Romana Grati, Claudia Izzi, Lorenza Martinoni, Eva Pompilii

Publikováno v: Prenatal Diagnosis. 35:1117-1127

Objectives Chromosomal mosaicism in chorionic villi (CV) is detected in ~1–2% of cases. When a mosaic in CV is detected during prenatal diagnosis, a confirmatory karyotype should be performed on amniocytes to discriminate between a mosaic confined

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b2112c5171324b780b9911ead0bb148e
https://doi.org/10.1002/pd.4656

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

Autor: Komal Bajaj, Beatrice Grimi, Federico Maggi, Barbara Malvestiti, Giuseppe Simoni, Cristina Agrati, Susan J. Gross, Eva Pompilii, Francesca Malvestiti, Jose Ferreira, Francesca Romana Grati

Publikováno v: Prenatal Diagnosis. 35:994-998

Objectives Cell-free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast. Consequently, invasive diagnostic testing is recommended to confirm a high-risk result. Currently

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4164cae7a6c4199e1112b44c38d4ee17
https://doi.org/10.1002/pd.4659

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

Autor: Francesca Romana, Grati, Komal, Bajaj, Francesca, Malvestiti, Cristina, Agrati, Beatrice, Grimi, Barbara, Malvestiti, Eva, Pompilii, Federico, Maggi, Susan, Gross, Giuseppe, Simoni, Jose Carlos P, Ferreira

Publikováno v: Prenatal diagnosis. 35(10)

Cell-free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast. Consequently, invasive diagnostic testing is recommended to confirm a high-risk result. Currently, there is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c26acf88348ac1d363c339c5250127e6
https://pubmed.ncbi.nlm.nih.gov/26211640

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