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Case Reports in Genetics|December 16, 2014
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineationGiorgia Mandrile, Eleonora Di Gregorio, Alessandro Calcia, et al.
Brain Sciences|October 31, 2020
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature ReviewSlavica Trajkova, Eleonora Di Gregorio, Giovanni Battista Ferrero, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genesAlessandro Calcia, Giorgia Gai, Eleonora Di Gregorio, et al.
European Journal of Medical Genetics|February 28, 2012
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidismElga Fabia Belligni, Eleonora Di Gregorio, Elisa Biamino, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 21, 2008
A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxiaClaudia Cagnoli, Alessandro Brussino, Luca Sbaiz, et al.
American Journal of Medical Genetics. Part A|January 14, 2021
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humansYoel Gofin, Laura Palmer Mackay, Keren Machol, et al.
Medicina (Kaunas, Lithuania)|July 10, 2019
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in PiebaldismLaura Cristina Gironi, Enrico Colombo, Alfredo Brusco, et al.
Cerebellum (London, England)|January 19, 2010
Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15Eleonora Di Gregorio, Laura Orsi, Massimiliano Godani, et al.
European Journal of Medical Genetics|May 17, 2026
VPS35L-Related Ritscher-Schinzel Syndrome: Expanding Genotype-Phenotype CorrelationsIlaria Carelli, Federico Rondot, Maria Luca, et al.
Parkinsonism & Related Disorders|May 5, 2016
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)Barbara Borroni, Eleonora Di Gregorio, Laura Orsi, et al.
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