11573/1744616 - 2025 -
Cardiac Involvement and TBCK -Related Neurodevelopmental Disorder: Is It a New Feature of This Condition? Mastromoro, Gioia; Guadagnolo, Daniele; Gianno, Francesca; Khaleghi Hashemian, Nader; Terracciano, Alessandra; Bernardini, Laura; Giancotti, Antonella; Novelli, Antonio; Piacentini, Gerardo; Di Gioia, Cira Rosaria Tiziana; Pizzuti, Antonio - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. - - issn: 1552-4825 - wos: (0) - scopus: (0)
11573/1770810 - 2025 -
The dilemma of X-linked agammaglobulinemia (XLA) carriers: multicenter, retrospective cohort study on the reproductive choices of XLA families Guadagnolo, D. Pulvirenti F.; Milito, C.; Cinetto, F.; Garzi, G.; Sardella, G.; Spadaro, G.; Lippi, F.; Guarnieri, V.; Cinicola, B. L.; Carrabba, M.; Fabio, G.; Martire, B.; Cancrini, C.; Lanzoni, G.; Mastromoro, G.; Khaleghi Hashemian, N.; Finocchi, A.; Di Matteo, G.; Pompili, E.; Ferrari, S.; Quinti, I. - 04d Abstract in atti di convegno
congresso: European Human Genetics Conference 2025 (Milan, Italy)
libro: European Society of Human Genetics - European Human Genetics Conference 2025 - ()
11573/1715761 - 2024 -
First-trimester cystic hygroma as the prenatal presenting feature of ASCC1-related spinal muscular atrophy withith congenital bone fractures Guadagnolo, Daniele; Mastromoro, Gioia; Hashemian, Nader Khaleghi; Orlando, Valeria; Lepri, Francesca Romana; D'alberti, Elena; Zullo, Fabrizio; Giancotti, Antonella; Novelli, Antonio; Pizzuti, Antonio - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (First or current publisher Basel ; New York : Karger, [1992]-
Intervening publisher [Houndmills, Basingstoke, Hampshire, UK] : Stockton Press
Intervening publisher [London?] : MacMillan Publishers Ltd.
Current or last publisher [London] : Nature Publishing Group) pp. - - issn: 1476-5438 - wos: WOS:001147414902058 (0) - scopus: (0)
11573/1683316 - 2023 -
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2 Guadagnolo, Daniele; Mastromoro, Gioia; Hashemian, Nader Khaleghi; Orlando, Valeria; Lepri, Francesca Romana; D'alberti, Elena; Giancotti, Antonella; Novelli, Antonio; Pizzuti, Antonio - 01i Case report
rivista: JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA (Toronto: Healthcare & Financial Publishing, Rogers Media for the Society of Obstretricians and Gynaecologists of Canada = Société des obstétriciens et gynécologues du Canada.) pp. - - issn: 1701-2163 - wos: WOS:001052354700001 (2) - scopus: 2-s2.0-85163315263 (2)
11573/1669255 - 2023 -
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series Mastromoro, Gioia; Guadagnolo, Daniele; Khaleghi Hashemian, Nader; Bernardini, Laura; Giancotti, Antonella; Piacentini, Gerardo; De Luca, Alessandro; Pizzuti, Antonio - 01a Articolo in rivista
rivista: DIAGNOSTICS (Basel: MDPI) pp. - - issn: 2075-4418 - wos: WOS:000909061800001 (12) - scopus: 2-s2.0-85145834414 (16)
11573/1622047 - 2022 -
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis Mastromoro, Gioia; Guadagnolo, Daniele; Khaleghi Hashemian, Nader; Marchionni, Enrica; Traversa, Alice; Pizzuti, Antonio - 01a Articolo in rivista
rivista: DIAGNOSTICS (Basel: MDPI) pp. - - issn: 2075-4418 - wos: WOS:000775533800001 (34) - scopus: 2-s2.0-85125635763 (37)
11573/1673015 - 2022 -
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis Mastromoro, Gioia; Khaleghi Hashemian, Nader; Guadagnolo, Daniele; Grazia Giuffrida, Maria; Torres, Barbara; Bernardini, Laura; Ventriglia, Flavia; Piacentini, Gerardo; Pizzuti, Antonio - 01a Articolo in rivista
rivista: DIAGNOSTICS (Basel: MDPI) pp. - - issn: 2075-4418 - wos: WOS:000818247100001 (8) - scopus: 2-s2.0-85131365204 (9)