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Current Opinion in Nephrology and Hypertension|December 6, 2024
Effect of the allelic background on the phenotype of primary hyperoxaluria type IGiorgia Mandrile, Barbara Cellini, Pietro Manuel Ferraro
Frontiers in Medicine|August 11, 2025
Genetics of kidney stones and the role of genetic testing in prevention: a guide for urologistsFrancesco Pintus, Noemi Giordano, Daniela Francesca Giachino, et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia|April 14, 2021
[Management of Primary Hyperoxaluria Type 1 in Italy]Pietro Manuel Ferraro, Giovanni Gambaro, Giorgia Mandrile, et al.
Human Molecular Genetics|July 4, 2014
S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementationRiccardo Montioli, Alessandro Roncador, Elisa Oppici, et al.
Molecular Genetics and Metabolism|August 15, 2020
The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterizationMirco Dindo, Giorgia Mandrile, Carolina Conter, et al.
Journal of Clinical Medicine|September 23, 2022
First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE)Giorgia Mandrile, Susanna Barella, Antonino Giambona, et al.
Clinical Kidney Journal|August 28, 2025
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reportedGiorgia Mandrile, Gill Rumsby, Veronica Sciannameo, et al.
Pediatric Nephrology (Berlin, Germany)|June 13, 2022
Genetic assessment in primary hyperoxaluria: why it mattersGiorgia Mandrile, Bodo Beck, Cecile Acquaviva, et al.
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.
Kidney International|July 3, 2014
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation typeGiorgia Mandrile, Christiaan S van Woerden, Paola Berchialla, et al.
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