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Author/Creator Ponzi, Emanuela

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:
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Record Type:
Journal Article
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2. 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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3. 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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4. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients. Issue 12 (30th September 2015)

Authors:
Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; Orteschi, Daniela; Ricciardi, Stefania; Lattante, Serena; Murdolo, Marina; Battaglia, Domenica; Contaldo, Ilaria; Mercuri, Eugenio; Stefanini, Maria Chiara; Caumes, Roseline; Edery, Patrick; Rossi, Massimiliano; Piccione, Maria; Corsello, Gio...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 12(2015)
Page Start:
804
Record Type:
Journal Article
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5. Novel exostosin‐2 missense variants in a family with autosomal recessive exostosin‐2‐related syndrome: further evidences on the phenotype. Issue 1 (24th October 2018)

Authors:
Gentile, Mattia; Agolini, Emanuele; Cocciadiferro, Dario; Ficarella, Romina; Ponzi, Emanuela; Bellacchio, Emanuele; Antonucci, Maria F.; Novelli, Antonio
Journal:
Clinical genetics
Issue:
Volume 95:Issue 1(2019)
Page Start:
165
Record Type:
Journal Article
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6. Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation. Issue 5 (27th March 2019)

Authors:
Ponzi, Emanuela; Alesi, Viola; Lepri, Francesca R.; Genovese, Silvia; Loddo, Sara; Mucciolo, Mafalda; Novelli, Antonio; Dionisi‐Vici, Carlo; Maiorana, Arianna
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 5(2019)
Page Start:
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Record Type:
Journal Article
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