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Prenatal Diagnosis|May 10, 2006
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosisPaolo Prontera, Barbara Buldrini, Vincenzo Aiello, et al.International Journal of Molecular Sciences|September 21, 2017
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the LiteraturePaolo Prontera, Daniela Rogaia, Amedea Mencarelli, et al.Genes|February 25, 2022
SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB SyndromeChiara Migliore, Anna Vendramin, Shane McKee, et al.International Journal of Molecular Sciences|July 11, 2018
A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic EncephalopathyValentina Rapaccini, Susanna Esposito, Francesco Strinati, et al.Frontiers in Endocrinology|April 26, 2018
Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill DyschondrosteosisLaura Lucchetti, Paolo Prontera, Amedea Mencarelli, et al.BMC Medical Genomics|August 17, 2022
Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutationsGiovanni Battista Dell'Isola, Elisabetta Mencaroni, Antonella Fattorusso, et al.Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [Di] Societa Italiana Di Ecografia Urologica E Nefrologica|March 16, 2023
Early diagnosis and management of arterio-ureteral fistulas: A literature reviewPier Paolo Prontera, Carmine Sciorio, Antonio De Cillis, et al.Journal of Autism and Developmental Disorders|April 12, 2014
Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorderPaolo Prontera, Domenico Serino, Bernardo Caldini, et al.Cephalalgia : an International Journal of Headache|August 7, 2013
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsyCinzia Costa, Paolo Prontera, Paola Sarchielli, et al.International Journal of Molecular Sciences|September 14, 2024
A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and MacrocephalyMiryam Rosa Stella Foti, Maria Giovanna Tedesco, Davide Colavito, et al.Pageof 12