11573/1706342 - 2024 -
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis Marchionni, Enrica; Guadagnolo, Daniele; Mastromoro, Gioia; Pizzuti, Antonio - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW
-S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. - - issn: 1018-4813 - wos: (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 (1) - scopus: 2-s2.0-85163315263 (1)
11573/1687956 - 2023 -
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility Guadagnolo, Daniele; Mastromoro, Gioia; Marchionni, Enrica; Germani, Aldo; Libi, Fabio; Sadeghi, Soha; Savio, Camilla; Petrucci, Simona; De Marchis, Laura; Piane, Maria; Pizzuti, Antonio - 01i Case report
rivista: BIOMEDICINES (Basel : MDPI) pp. 1-6 - issn: 2227-9059 - wos: WOS:001038003500001 (0) - scopus: 2-s2.0-85175109427 (0)
11573/1697502 - 2023 -
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region Guadagnolo, Daniele; Mastromoro, Gioia; Torres, Barbara; Marchionni, Enrica; Di Palma, Francesca; Goldoni, Marina; Cocciadiferro, Dario; Novelli, Antonio; Bernardini, Laura; Pizzuti, Antonio - 01a Articolo in rivista
rivista: GENES (Basel : Molecular Diversity Preservation International) pp. - - issn: 2073-4425 - wos: WOS:001132057700001 (0) - scopus: 2-s2.0-85180673237 (0)
11573/1669248 - 2023 -
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Torres, Barbara; Goldoni, Marina; Onori, Annamaria; Bernardini, Laura; De Luca, Alessandro; Torrente, Isabella; 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: WOS:000907167600001 (1) - scopus: 2-s2.0-85145589376 (2)
11573/1682972 - 2023 -
Prenatal CFAP53-related laterality defect: case report and review of the literature Mastromoro, Gioia; Guadagnolo, Daniele; Novelli, Antonio; Torres, Barbara; Piane, Maria; Magliozzi, Monia; Bernardini, Laura; Ventriglia, Flavia; Pizzuti, Antonio; Petrucci, Simona - 01a Articolo in rivista
rivista: THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE (London : Taylor & Francis, 2002-
London : Parthenon Pub. Group.) pp. 2201653- - issn: 1476-4954 - wos: WOS:000969108400001 (0) - scopus: 2-s2.0-85152272340 (0)
11573/1686126 - 2023 -
Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters Piano Mortari, Eva; Pulvirenti, Federica; Marcellini, Valentina; Terreri, Sara; Salinas, Ane Fernandez; Ferrari, Simona; Di Napoli, Giulia; Guadagnolo, Daniele; Sculco, Eleonora; Albano, Christian; Guercio, Marika; Di Cecca, Stefano; Milito, Cinzia; Garzi, Giulia; Pesce, Anna Maria; Bonanni, Livia; Sinibaldi, Matilde; Bordoni, Veronica; Di Cecilia, Serena; Accordini, Silvia; Castilletti, Concetta; Agrati, Chiara; Quintarelli, Concetta; Zaffina, Salvatore; Locatelli, Franco; Carsetti, Rita; Quinti, Isabella - 01a Articolo in rivista
rivista: FRONTIERS IN IMMUNOLOGY (Lausanne : Frontiers Research Foundation, 2010-) pp. - - issn: 1664-3224 - wos: WOS:001002936600001 (3) - scopus: 2-s2.0-85161411174 (3)
11573/1682069 - 2023 -
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, Marco; De Luca, Alessandro - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW
-S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 479-484 - issn: 1018-4813 - wos: WOS:000907881800003 (1) - scopus: 2-s2.0-85145605532 (3)
11573/1681745 - 2023 -
Case report. interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2. are all heterozygous born equals Pulvirenti, Federica; Cinicola, Bianca Laura; Ferrari, Simona; Guadagnolo, Daniele; Sculco, Eleonora; Capponi, Martina; Loffredo, Lorenzo; Sciannamea, Maddalena; Insalaco, Antonella; Quinti, Isabella; De Benedetti, Fabrizio; Zicari, Anna Maria - 01i Case report
rivista: FRONTIERS IN IMMUNOLOGY (Lausanne : Frontiers Research Foundation, 2010-) pp. 1156689- - issn: 1664-3224 - wos: WOS:000988306800001 (0) - scopus: 2-s2.0-85159692460 (0)
11573/1649089 - 2022 -
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer Germani, Aldo; Guadagnolo, Daniele; Salvati, Valentina; Micolonghi, Caterina; Mancini, Rita; Mastromoro, Gioia; Sadeghi, Soha; Petrucci, Simona; Pizzuti, Antonio; Piane, Maria - 01i Case report
rivista: DIAGNOSTICS (Basel: MDPI) pp. 1-13 - issn: 2075-4418 - wos: WOS:000832165800001 (0) - scopus: 2-s2.0-85133166200 (0)
11573/1669255 - 2022 -
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 (4) - scopus: 2-s2.0-85145834414 (5)
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 (7) - scopus: 2-s2.0-85125635763 (10)
11573/1669968 - 2022 -
Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Giancotti, Antonella; Grazia Giuffrida, Maria; Bernardini, Laura; Pizzuti, Antonio - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114
Precedente: Excerpta Medica,Shannon.) pp. - - issn: 0301-2115 - wos: WOS:000831641300001 (0) - scopus: 2-s2.0-85129650683 (0)
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 (2) - scopus: 2-s2.0-85131365204 (2)
11573/1493515 - 2021 -
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations Genovesi, M. L.; Guadagnolo, D.; Marchionni, E.; Giovannetti, A.; Traversa, A.; Panzironi, N.; Bernardo, S.; Palumbo, P.; Petrizzelli, F.; Carella, M.; Mazza, T.; Pizzuti, A.; Caputo, V. - 01a Articolo in rivista
rivista: BONE (New York: Pergamon Press, c1985-) pp. - - issn: 8756-3282 - wos: WOS:000615746400001 (6) - scopus: 2-s2.0-85099259643 (6)
11573/1496141 - 2021 -
Prenatal exome sequencing: background, current practice and future perspectives - A systematic review Guadagnolo, Daniele; Mastromoro, Gioia; Di Palma, Francesca; Pizzuti, Antonio; Marchionni, Enrica - 01g Articolo di rassegna (Review)
rivista: DIAGNOSTICS (Basel: MDPI) pp. - - issn: 2075-4418 - wos: WOS:000622430100001 (16) - scopus: 2-s2.0-85114358764 (15)
11573/1571044 - 2021 -
Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings Guadagnolo, Daniele; Piane, Maria; Torrisi, Maria Rosaria; Pizzuti, Antonio; Petrucci, Simona - 01g Articolo di rassegna (Review)
rivista: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. 1-17 - issn: 1664-2295 - wos: WOS:000703993000001 (27) - scopus: 2-s2.0-85116448186 (26)
11573/1496110 - 2021 -
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy Marchionni, Enrica; Agolini, Emanuele; Mastromoro, Gioia; Guadagnolo, Daniele; Coppola, Giulia; Roggini, Mario; Riminucci, Mara; Novelli, Antonio; Giancotti, Antonella; Corsi, Alessandro; 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. 1509-1514 - issn: 1552-4825 - wos: WOS:000615102100001 (1) - scopus: 2-s2.0-85100536934 (1)
11573/1496224 - 2021 -
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings Mastromoro, Gioia; Guadagnolo, Daniele; Giancotti, Antonella; Grazia Di Gregorio, Maria; Marchionni, Enrica; Vena, Flaminia; Romana Lepri, Francesca; Bargiacchi, Lavinia; Ventriglia, Flavia; Di Gioia, Cira Rosaria Tiziana; Novelli, Antonio; Pizzuti, Antonio - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. - - issn: 1769-7212 - wos: WOS:000612309700015 (6) - scopus: 2-s2.0-85096969585 (8)
11573/1669246 - 2021 -
Incidental SOS1 variant identified by non-invasive prenatal screening: Prenatal diagnosis and family clinical reassessment Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Di Palma, Francesca; Gigante, Laura; Versacci, Paolo; Ventriglia, Flavia; Baldi, Marina; Pizzuti, Antonio - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114
Precedente: Excerpta Medica,Shannon.) pp. 518-520 - issn: 0301-2115 - wos: WOS:000604431000086 (1) - scopus: 2-s2.0-85097446682 (1)
11573/1349570 - 2019 -
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. Traversa, A; Bernardo, S; Paiardini, A; Giovannetti, A; Marchionni, E; Genovesi, Ml; Guadagnolo, D; Torres, B; Paolacci, S; Bernardini, L; Mazza, T; Carella, M; Caputo, V; Pizzuti, A - 01a Articolo in rivista
rivista: MOLECULAR GENETICS & GENOMIC MEDICINE ([Hoboken, NJ] : John Wiley & Sons, [2013]-) pp. - - issn: 2324-9269 - wos: WOS:000497878100001 (4) - scopus: 2-s2.0-85075459805 (5)