F. Pirozzi

Most-cited papers

1. Advances in understanding – genetic basis of intellectual disability

   Pietro Chiurazzi, F. Pirozzi

   2016F1000Research135 citations Open access

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2. From microcephaly to megalencephaly: determinants of brain size

   F. Pirozzi, Branden R. Nelson, G. Mirzaa

   2018Dialogues in Clinical Neuroscience78 citations Open access

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3. The FRAXopathies: Definition, overview, and update

   F. Pirozzi, E. Tabolacci, G. Neri

   2011American Journal of Medical Genetics. Part A44 citations Open access

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4. Highly efficient methods to obtain homogeneous dorsal neural progenitor cells from human and mouse embryonic stem cells and induced pluripotent stem cells

   Mei-Xiang Zhang, Justine Ngo, F. Pirozzi, Ying-Pu Sun +1 more

   2018Stem cell research & therapeutics35 citations Open access

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5. Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

   F. Pirozzi, F. D. Di Raimo, G. Zanni, E. Bertini +6 more

   2011Human Mutation25 citations Open access

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6. Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

   F. Pirozzi, Benson Lee, Nicole Horsley, Deepika D Burkardt +9 more

   2021American Journal of Medical Genetics. Part A24 citations Open access

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7. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

   F. Pirozzi, Matthew Berkseth, Rylee Shear, L. Gonzalez +20 more

   2022Brain : a journal of neurology22 citations Open access

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8. Lim Mineralization Protein 3 Induces the Osteogenic Differentiation of Human Amniotic Fluid Stromal Cells through Kruppel-Like Factor-4 Downregulation and Further Bone-Specific Gene Expression

   M. Barba, F. Pirozzi, N. Saulnier, Tiziana Vitali +8 more

   2012Journal of Biomedicine and Biotechnology18 citations Open access

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9. The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

   E. Tabolacci, F. Pirozzi, B. Gomez-Mancilla, F. Gasparini +1 more

   2012BMC Medical Genetics14 citations Open access

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10. FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

    E. Fernandez, E. Gennaro, F. Pirozzi, C. Baldo +7 more

    2018Frontiers in Genetics12 citations Open access

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11. Bradeion (SEPT4) as a urinary marker of transitional cell bladder cancer: a real-time polymerase chain reaction study of gene expression.

    Luca Bongiovanni, F. Pirozzi, F. Guidi, M. Orsini +3 more

    2012Journal of Urology11 citations

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12. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

    Daniel L. Polla, M. A. F. Fard, Zahra Tabatabaei, P. Habibzadeh +46 more

    2021Genetics in Medicine7 citations Open access

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13. MOPD I patient-derived cerebral organoids model microcephaly showing premature neurogenesis due to disrupted mitotic spindle orientation

    Jagjit Singh, Noah J. Daniels, F. Pirozzi, A. Wynshaw-Boris +2 more

    2022bioRxiv1 citations Open access

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14. Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR reveals novel clinical and molecular insights

    F. Pirozzi, Matthew Berkseth, Rylee Shear, L. González +18 more

    2021medRxiv1 citations Open access

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15. Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant.

    Francesco Martello, S. Lattante, P. N. Doronzio, A. Conte +6 more

    2021Stem Cell Research0 citations Open access

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16. Highly efficient methods to obtain homogeneous dorsal neural progenitor cells from human and mouse embryonic stem cells and induced pluripotent stem cells

    Mei-Xiang Zhang, Justine Ngo, F. Pirozzi, Ying-Pu Sun +1 more

    2018Stem cell research & therapeutics0 citations Open access

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17. Is VEGF a good candidate to promote peripheral axonogenesis by gene therapy

    S. Zacchigna, S. Raimondo, G. Ronchi, C. Audisio +8 more

    20100 citations

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