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De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report.

Autor: Libotte F; Human Genetics Laboratory, Fetal-Maternal Medical Centre, ALTAMEDICA, 00198 Rome, Italy., Fabiani M; Human Genetics Laboratory, Fetal-Maternal Medical Centre, ALTAMEDICA, 00198 Rome, Italy., Margiotti K; Human Genetics Laboratory, Fetal-Maternal Medical Centre, ALTAMEDICA, 00198 Rome, Italy., Carpineto LS; Human Genetics Laboratory, Fetal-Maternal Medical Centre, ALTAMEDICA, 00198 Rome, Italy., Monaco F; Human Genetics Laboratory, Fetal-Maternal Medical Centre, ALTAMEDICA, 00198 Rome, Italy., Raffio R; Human Genetics Laboratory, Fetal-Maternal Medical Centre, ALTAMEDICA, 00198 Rome, Italy., Mesoraca A; Human Genetics Laboratory, Fetal-Maternal Medical Centre, ALTAMEDICA, 00198 Rome, Italy., Giorlandino C; Human Genetics Laboratory, Fetal-Maternal Medical Centre, ALTAMEDICA, 00198 Rome, Italy.; Department of Prenatal Diagnosis, Fetal-Maternal Medical Centre, ALTAMEDICA, 00198 Rome, Italy.

Publikováno v: Experimental and therapeutic medicine [Exp Ther Med] 2023 Jan 16; Vol. 25 (2), pp. 100. Date of Electronic Publication: 2023 Jan 16 (Print Publication: 2023).

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Periodical

Trends. (cover story)

Autor: Raffio, R., Hlavaty, C.

Publikováno v: Personal Computing. Oct89, Vol. 13 Issue 10, p187. 9p. 1 Illustration, 20 Graphs.

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Periodical

The power brokers.

Autor: Raffio, R., Littman, J., al, et

Publikováno v: Personal Computing. Jul89, Vol. 13 Issue 7, p69. 14p. 1 Color Photograph, 25 Black and White Photographs.

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Akademický článek

Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population.

Autor: Padula F; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Cignini P; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giannarelli D; Scientific Direction, Biostatistical Unit, Regina Elena National Cancer Institute, Rome, Italy., Brizzi C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Coco C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., D'Emidio L; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giorgio E; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giorlandino M; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Mangiafico L; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Mastrandrea M; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Milite V; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Mobili L; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Nanni C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Raffio R; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Taramanni C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Vigna R; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Mesoraca A; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Bizzoco D; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Gabrielli I; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Di Giacomo G; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Barone MA; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Cima A; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giorlandino FR; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Emili S; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Cupellaro M; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giorlandino C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy.

Publikováno v: Journal of prenatal medicine [J Prenat Med] 2014 Apr-Jun; Vol. 8 (3-4), pp. 50-6.

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Akademický článek

Introducing the next generation sequencing in genomic amnio and villuos sampling. The so called "Next Generation Prenatal Diagnosis" (NGPD).

Autor: Giorlandino C; Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy., Mesoraca A; Artemisia Fetal Maternal Medical Centre, Department of Genetics, Rome, Italy., Bizzoco D; Artemisia Fetal Maternal Medical Centre, Department of Genetics, Rome, Italy., Dello Russo C; Artemisia Fetal Maternal Medical Centre, Department of Genetics, Rome, Italy., Cima A; Artemisia Fetal Maternal Medical Centre, Department of Genetics, Rome, Italy., Di Giacomo G; Artemisia Fetal Maternal Medical Centre, Department of Genetics, Rome, Italy., Cignini P; Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy., Padula F; Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy., Dugo N; Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy., D'Emidio L; Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy., Brizzi C; Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy., Raffio R; Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy., Milite V; Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy., Mangiafico L; Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy., Coco C; Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy., Carcioppolo O; Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy., Vigna R; Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy., Mastrandrea M; Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy., Mobili L; Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy.

Publikováno v: Journal of prenatal medicine [J Prenat Med] 2014 Jan-Mar; Vol. 8 (1-2), pp. 1-10.

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Akademický článek

Significance of heterozygosis M34T mutation of GJB2 gene in non-syndromic congenital deafness. Retrospective analysis of 12,472 samples of amniotic fluid.

Autor: Coco M; Department of Otorynology, University Campus Bio-medico, Rome, Italy., Salvinelli F; Department of Otorynology, University Campus Bio-medico, Rome, Italy., Greco F; Department of Otorynology, University Campus Bio-medico, Rome, Italy., Trivelli M; Department of Otorynology, University Campus Bio-medico, Rome, Italy., D'Emidio L; Department of Prenatal Diagnosis, Artemisia Main Center, Rome, Italy., Mesoraca A; Department of Genetics, Artemisia Main Center, Rome, Italy., Giorlandino C; Department of Prenatal Diagnosis, Artemisia Main Center, Rome, Italy., Raffio R; Department of Prenatal Diagnosis, Artemisia Main Center, Rome, Italy., Coco C; Department of Prenatal Diagnosis, Artemisia Main Center, Rome, Italy.

Publikováno v: Journal of prenatal medicine [J Prenat Med] 2013 Oct; Vol. 7 (4), pp. 56-8.

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