Zobrazeno 1 - 10 of 22 pro vyhledávání: '"Francesco Picciotto"'
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Akademický článek
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
Autor: Margherita Vinciguerra, Filippo Leto, Filippo Cassarà, Viviana Tartaglia, Michela Malacarne, Domenico Coviello, Valentina Cigna, Emanuela Orlandi, Francesco Picciotto, Gaspare Cucinella, Emanuela Salzano, Maria Piccione, Aurelio Maggio, Antonino Giambona
Publikováno v: Life, Vol 13, Iss 1, p 20 (2022)
Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the progno
Externí odkaz: https://doaj.org/article/21ef2c14625d4b9c833b954c392163ac
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2
Akademický článek
Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis
Autor: Gianfranca Damiani, Margherita Vinciguerra, Cristina Jakil, Monica Cannata, Filippo Cassarà, Francesco Picciotto, Giovanna Schillaci, Valentina Cigna, Disma Renda, Aldo Volpes, Francesca Sammartano, Samuela Milone, Adolfo Allegra, Cristina Passarello, Filippo Leto, Antonino Giambona
Publikováno v: Thalassemia Reports, Vol 4, Iss 2 (2014)
Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthes
Externí odkaz: https://doaj.org/article/5368a77e1dfa40fab2029b9cfb1d1ab0
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4
Early prenatal diagnosis of Hb Lepore Boston‐Washington and β‐thalassemia on fetal celomatic DNA
Autor: Antonino Giambona, Filippo Leto, Filippo Cassarà, Viviana Tartaglia, Giuseppe Marchese, Emanuela Orlandi, Valentina Cigna, Francesco Picciotto, Aurelio Maggio, Margherita Vinciguerra
Publikováno v: International Journal of Laboratory Hematology. 44:796-802
Analysis of fetal DNA in at risk couples for thalassemia is performed from fetal trophoblast or amniotic fluid cells. Although these procedures are in common use, the main limitation is essentially due to the late gestation week in which diagnosis is
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6a3bf1f7d316df5efdd2be2afd5fbe0
https://doi.org/10.1111/ijlh.13837
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5
Celomic Fluid: Laboratory Workflow for Prenatal Diagnosis of Monogenic Diseases
Autor: Antonino Giambona, Margherita Vinciguerra, Filippo Leto, Filippo Cassarà, Viviana Tartaglia, Valentina Cigna, Emanuela Orlandi, Francesco Picciotto, Nourah H. Al Qahtani, Eman S. Alsulmi, Noor B. Almandil, Sayed AbdulAzeez, J. Francis Borgio, Aurelio Maggio
Publikováno v: Molecular Diagnosis & Therapy. 26:239-252
Celomic fluid can be considered as an ultra-filtrate of maternal serum, containing a high protein concentration, urea, and many other molecules. It is an important transfer interface and a reservoir of nutrients for the embryo. Celomic fluid contains
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16b8c2a88f9295b1b3134ffdc04d5488
https://doi.org/10.1007/s40291-022-00577-3
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6
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
Autor: Margherita Vinciguerra, Filippo Leto, Filippo Cassarà, Viviana Tartaglia, Michela Malacarne, Domenico Coviello, Valentina Cigna, Emanuela Orlandi, Francesco Picciotto, Gaspare Cucinella, Emanuela Salzano, Maria Piccione, Aurelio Maggio, Antonino Giambona
Publikováno v: Life; Volume 13; Issue 1; Pages: 20
Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the progno
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b2dd98503fdb30921e201fb7097a5ad
https://hdl.handle.net/10447/582570
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8
Non-immune hydrops fetalis: Two case reports
Autor: Clelia Lo Verso, Emanuela Orlandi, Valentina Cigna, Vincenzo Duca, Marianna Maranto, Gaspare Cucinella, Francesco Picciotto
Publikováno v: World Journal of Clinical Cases
BACKGROUND Fetal hydrops is a serious condition difficult to manage, often with a poor prognosis, and it is characterized by the collection of fluid in the extravascular compartments. Before 1968, the most frequent cause was the maternal-fetal Rh inc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68f4da7eb0a94554f7f3ce9c33189f8e
http://europepmc.org/articles/PMC8362581
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10
Celocentesis for early prenatal diagnosis of hemoglobinopathy
Autor: Valentina Cigna, Aurelio Maggio, Filippo Cassarà, Gianfranca Damiani, Filippo Leto, Kypros H. Nicolaides, Antonino Giambona, C Jakil, Francesco Picciotto, George Makrydimas, Giovanna Schillaci, Margherita Vinciguerra, Manuela Orlandi
Publikováno v: Ultrasound in Obstetrics & Gynecology. 56:672-677
OBJECTIVE Celocentesis is an invasive technique that can provide prenatal diagnosis of single-gene disorders, from as early as 7 weeks' gestation. The objective of this study was to examine the safety of celocentesis. METHODS In this prospective stud
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::530ab87b648f31649937def50d5af0b0
https://doi.org/10.1002/uog.22059
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