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Page 1
A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts.
Placidi G, D'Agostino E, Maltese PE, Savastano MC, Gambini G, Rizzo S, Bonetti G, Bertelli M, Chiurazzi P, Falsini B. Placidi G, et al. Among authors: maltese pe. BMC Med Genomics. 2024 Apr 22;17(1):100. doi: 10.1186/s12920-024-01868-w. BMC Med Genomics. 2024. PMID: 38649918 Free PMC article.
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.
D'Esposito F, Randazzo V, Vega MI, Esposito G, Maltese PE, Torregrossa S, Scibetta P, Listì F, Gagliano C, Scalia L, Pioppo A, Marino A, Piergentili M, Malvone E, Fioretti T, Vitrano A, Piccione M, Avitabile T, Salvatore F, Bertelli M, Costagliola C, Cordeiro MF, Maggio A, D'Alcamo E. D'Esposito F, et al. Among authors: maltese pe. Medicina (Kaunas). 2024 Feb 1;60(2):254. doi: 10.3390/medicina60020254. Medicina (Kaunas). 2024. PMID: 38399542 Free PMC article.
Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity.
Bonetti G, Dhuli K, Ceccarini MR, Kaftalli J, Samaja M, Precone V, Cecchin S, Maltese PE, Guerri G, Marceddu G, Beccari T, Aquilanti B, Velluti V, Matera G, Perrone M, Iaconelli A, Colombo F, Greco F, Raffaelli M, Ergoren MC, Bertelli M. Bonetti G, et al. Among authors: maltese pe. J Clin Med. 2022 Dec 19;11(24):7531. doi: 10.3390/jcm11247531. J Clin Med. 2022. PMID: 36556146 Free PMC article.
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese PE, Colombo L, Martella S, Rossetti L, El Shamieh S, Sinibaldi L, Passarelli C, Coppè AM, Buzzonetti L, Falsini B, Chiurazzi P, Placidi G, Tanzi B, Bertelli M, Iarossi G. Maltese PE, et al. Front Genet. 2022 Jun 28;13:914345. doi: 10.3389/fgene.2022.914345. eCollection 2022. Front Genet. 2022. PMID: 35836572 Free PMC article.
47 results