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Author/Creator Gentile, Mattia

1. 14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies. Issue 7 (16th May 2020)

Authors:
Ponzi, Emanuela; Gentile, Mattia; Agolini, Emanuele; Matera, Emilia; Palumbi, Roberto; Buonadonna, Antonia Lucia; Peschechera, Antonia; Gabellone, Alessandra; Antonucci, Maria Fatima; Margari, Lucia
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 7(2020)
Page Start:
n/a
Record Type:
Journal Article
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2. 14q13 distal microdeletion encompassing NKX2‐1 and PAX9: Patient report and refinement of the associated phenotype. Issue 7 (5th May 2016)

Authors:
Gentile, Mattia; De Mattia, Delia; Pansini, Angela; Schettini, Federico; Buonadonna, Antonia Lucia; Capozza, Manuela; Ficarella, Romina; Laforgia, Nicola
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 7(2016)
Page Start:
1884
Record Type:
Journal Article
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3. Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome. Issue 2 (24th December 2020)

Authors:
Amenta, Simona; Frangella, Silvia; Marangi, Giuseppe; Lattante, Serena; Ricciardi, Stefania; Doronzio, Paolo Niccolò; Orteschi, Daniela; Veredice, Chiara; Contaldo, Ilaria; Zampino, Giuseppe; Gentile, Mattia; Scarano, Emanuela; Graziano, Claudio; Zollino, Marcella
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 2(2022)
Page Start:
189
Record Type:
Journal Article
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5. Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model. Issue 9 (11th November 2021)

Authors:
Mignogna, Maria Lidia; Ficarella, Romina; Gelmini, Susanna; Marzulli, Lucia; Ponzi, Emanuela; Gabellone, Alessandra; Peschechera, Antonia; Alessio, Massino; Margari, Lucia; Gentile, Mattia; D'Adamo, Patrizia
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 9(2022)
Page Start:
1389
Record Type:
Journal Article
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6. Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. (December 2017)

Authors:
Marini, Carla; Romoli, Michele; Parrini, Elena; Costa, Cinzia; Mei, Davide; Mari, Francesco; Parmeggiani, Lucio; Procopio, Elena; Metitieri, Tiziana; Cellini, Elena; Virdò, Simona; De Vita, Dalila; Gentile, Mattia; Prontera, Paolo; Calabresi, Paolo; Guerrini, Renzo
Journal:
Neurology
Issue:
Volume 3:Number 6(2017)
Page Start:
Record Type:
Journal Article
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7. First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling. Issue 6 (22nd March 2021)

Authors:
Gentile, Mattia; Fanelli, Tiziana; Lepri, Francesca Romana; Gentile, Angela; Orsini, Paola; Volpe, Paolo; Novelli, Antonio; Ficarella, Romina
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 6(2021)
Page Start:
1897
Record Type:
Journal Article
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8. Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects. Issue 3 (30th November 2020)

Authors:
Gentile, Mattia; Ranieri, Carlotta; Loconte, Daria C.; Ponzi, Emanuela; Ficarella, Romina; Volpe, Paolo; Scalzo, Gabriele; Lepore Signorile, Martina; Grossi, Valentina; Cordella, Angela; Ventola, Giovanna Maria; Susca, Francesco C.; Turchiano, Antonella; Simone, Cristiano; Resta, Nicoletta
Journal:
Clinical genetics
Issue:
Volume 99:Issue 3(2021)
Page Start:
425
Record Type:
Journal Article
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10. Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low‐risk cell‐free DNA test for common trisomies. (9th August 2020)

Authors:
Persico, Nicola; Boito, Simona; Volpe, Paolo; Ischia, Benedetta; Gentile, Mattia; Ronzoni, Luisa; De Robertis, Valentina; Fabietti, Isabella; Olivieri, Claudiana; Periti, Enrico; Ficarella, Romina; Silipigni, Rosamaria; Rembouskos, Georgios
Journal:
Prenatal diagnosis
Issue:
Volume 40:Number 11(2020)
Page Start:
1474
Record Type:
Journal Article
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