Zobrazeno 1 - 10 of 16 pro vyhledávání: '"Domenico Bizzoco"'
1
Akademický článek
Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis
Autor: Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino
Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 55, Iss 6, Pp 863-866 (2016)
Objective: Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment
Externí odkaz: https://doaj.org/article/14459b7f724f4a3ca15e12cf12f778c1
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2
Akademický článek
Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization
Autor: Pietro Cignini, Angela Dinatale, Laura D'Emidio, Annamaria Giacobbe, Elisa Maria Pappalardo, Santina Ermito, Domenico Bizzoco, Gianluca Di Giacomo, Ivan Gabrielli, Alvaro Mesoraca, Maurizio Giorlandino, Claudio Giorlandino
Publikováno v: American Journal of Perinatology Reports, Vol 01, Iss 01, Pp 029-032 (2011)
A fetus with de novo ring chromosome 16 is presented. At 20 weeks' gestation, ultrasound examination demonstrated bilateral clubfoot, bilateral renal pyelectasis, hypoplasia of the corpus callosum, and transposition of the great vessel. Amniocentesis
Externí odkaz: https://doaj.org/article/508e6147a2e2451eb18d071b4522ad94
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4
Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis
Autor: Alvaro Mesoraca, Claudio Giorlandino, Marilli I, Ferdinando Antonio Gulino, Pietro Cignini, Domenico Bizzoco, Francesco Libotte, Agnese Maria Chiara Rapisarda, Ivan Gabrielli, Salvatore Giovanni Vitale
Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 55, Iss 6, Pp 863-866 (2016)
Objective Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58ddd618392c697e5b09097aa6ba4bc9
https://doi.org/10.1016/j.tjog.2016.07.010
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6
New Metacentric Populations and Phylogenetic Hypotheses Involving Whole-Arm Reciprocal Translocation in Mus musculus domesticus from Sicily, Southern Italy
Autor: Emanuela Zambigli, Ernesto Capanna, Domenico Bizzoco, Riccardo Castiglia, Emanuela Solano, Alexandra M. R. Bezerra
Publikováno v: Cytogenetic and Genome Research. 146:230-237
The house mouse Mus musculus domesticus is characterized by more than 100 metacentric populations, due to the occurrence of Robertsonian (Rb) fusions, together with the standard all-telocentric karyotype (2n = 40). We examined G-banded karyotypes of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5f045e5ad83a8375344e04d6e53256c4
https://doi.org/10.1159/000439208
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8
Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization
Autor: Claudio Giorlandino, Annamaria Giacobbe, Angela Dinatale, Alvaro Mesoraca, Santina Ermito, Maurizio Giorlandino, Domenico Bizzoco, Gianluca Di Giacomo, Ivan Gabrielli, Laura D'Emidio, Elisa Maria Pappalardo, Pietro Cignini
Publikováno v: AJP Reports
American Journal of Perinatology Reports, Vol 01, Iss 01, Pp 029-032 (2011)
A fetus with de novo ring chromosome 16 is presented. At 20 weeks' gestation, ultrasound examination demonstrated bilateral clubfoot, bilateral renal pyelectasis, hypoplasia of the corpus callosum, and transposition of the great vessel. Amniocentesis
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7b726fb7a20fade59bd4c9d79346ae
https://doi.org/10.1055/s-0031-1274512
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9
Antibiotic Prophylaxis before second-trimester Genetic Amniocentesis (APGA): a single-centre open randomised controlled trial
Autor: Domenico Bizzoco, Ivan Gabrielli, Pietro Cignini, Vincenzo Milite, Claudio Coco, Luisa Mobili, Paolo Gentili, C. Brizzi, Marco Cini, Claudio Giorlandino, Alvaro Mesoraca, Lucia Mangiafico, Ornella Carcioppolo
Publikováno v: Prenatal Diagnosis. 29:606-612
To compare procedure-related pregnancy loss after second-trimester genetic amniocentesis in women given an antibiotic prophylaxis and controls.Prospective, open randomised controlled single-centre study between January 1999 and December 2005 at Artem
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33df36f5481d5151ec0694d421f5fc87
https://doi.org/10.1002/pd.2256
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10
New Metacentric Populations and Phylogenetic Hypotheses Involving Whole-Arm Reciprocal Translocation in Mus musculus domesticus from Sicily, Southern Italy
Autor: Riccardo, Castiglia, Ernesto, Capanna, Alexandra M R, Bezerra, Domenico, Bizzoco, Emanuela, Zambigli, Emanuela, Solano
Publikováno v: Cytogenetic and genome research. 146(3)
The house mouse Mus musculus domesticus is characterized by more than 100 metacentric populations, due to the occurrence of Robertsonian (Rb) fusions, together with the standard all-telocentric karyotype (2n = 40). We examined G-banded karyotypes of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0db75935b4a5ac5e5a6e0ed50c743e1f
https://pubmed.ncbi.nlm.nih.gov/26361346
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