1. Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT). Issue 2 (April 2016) Authors: Liut, Francesca; Izzi, Claudia; Dallera, Nadia; Scolari, Francesco Journal: Giornale di tecniche nefrologiche e dialitiche Issue: Volume 28:Issue 2(2016) Page Start: 79 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes. (4th March 2019) Authors: Mackay, Deborah J.G.; Bliek, Jet; Lombardi, Maria Paola; Russo, Silvia; Calzari, Luciano; Guzzetti, Sara; Izzi, Claudia; Selicorni, Angelo; Melis, Daniela; Temple, Karen; Maher, Eamonn; Brioude, Frédéric; Netchine, Irène; Eggermann, Thomas Journal: Genetical research Issue: Volume 101(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature. Issue 8 (22nd October 2018) Authors: Agostini, Annalisa; Marchetti, Daniela; Izzi, Claudia; Cocco, Isabella; Pinelli, Lorenzo; Accorsi, Patrizia; Iascone Maria, Rosaria; Giordano, Lucio Journal: American journal of medical genetics Issue: Volume 177:Issue 8(2018) Page Start: 687 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow‐up amniocentesis. (11th September 2015) Authors: Malvestiti, Francesca; Agrati, Cristina; Grimi, Beatrice; Pompilii, Eva; Izzi, Claudia; Martinoni, Lorenza; Gaetani, Elisa; Liuti, Maria Rosaria; Trotta, Anna; Maggi, Federico; Simoni, Giuseppe; Grati, Francesca Romana Journal: Prenatal diagnosis Issue: Volume 35:Number 11(2015:Nov.) Page Start: 1117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome. Issue 5 (11th April 2013) Authors: Handley, Mark T.; Morris‐Rosendahl, Deborah J.; Brown, Stephen; Macdonald, Fiona; Hardy, Carol; Bem, Danai; Carpanini, Sarah M.; Borck, Guntram; Martorell, Loreto; Izzi, Claudia; Faravelli, Francesca; Accorsi, Patrizia; Pinelli, Lorenzo; Basel‐Vanagaite, Lina; Peretz, Gabriela; Abdel‐Salam, Ghada... Journal: Human mutation Issue: Volume 34:Issue 5(2013:May) Page Start: 686 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Outcomes in Pregnancies With a Confined Placental Mosaicism and Implications for Prenatal Screening Using Cell-Free DNA. Issue 7 (July 2020) Authors: Grati, Francesca Romana; Ferreira, Jose; Benn, Peter; Izzi, Claudia; Verdi, Federica; Vercellotti, Elena; Dalpiaz, Cristina; D'Ajello, Patrizia; Filippi, Elisa; Volpe, Nicola; Malvestiti, Francesca; Maggi, Federico; Simoni, Giuseppe; Frusca, Tiziana; Cirelli, Gaetana; Bracalente, Gabriella; Re, A... Journal: Obstetrical & gynecological survey Issue: Volume 75:Issue 7(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. P0057ADPKD: COMPLEX GENOTYPES MAY EXPLAIN SEVERE PHENOTYPE AND INTRAFAMILIAL PHENOTYPIC VARIABILITY. (6th June 2020) Authors: Izzi, Claudia; Delbarba, Elisa; Econimo, Laura; Dordoni, Chiara; Savoldi, Gianfranco; Mazza, Cinzia; Dallera, Nadia; Scolari, Francesco Journal: Nephrology dialysis transplantation Issue: Volume 35(2020)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. P0074EXPANDING THE VARIABILITY OF THE ADPKD-GANAB CLINICAL PHENOTYPE: A NEW FAMILY OF ITALIAN ANCESTRY. (6th June 2020) Authors: Delbarba, Elisa; Econimo, Laura; Dordoni, Chiara; Martin, Eva; Gnutti, Barbara; Savoldi, Gianfranco; Mazza, Cinzia; Dallera, Nadia; Scolari, Francesco; Izzi, Claudia Journal: Nephrology dialysis transplantation Issue: Volume 35(2020)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Prenatal findings in oral‐facial‐digital syndrome type VI: Report of three cases and literature review. (2nd July 2019) Authors: Dordoni, Chiara; Prefumo, Federico; Iascone, Maria; Pinelli, Lorenzo; Palumbo, Giovanni; Bondioni, Maria Pia; Savoldi, Gianfranco; Donzelli, Carla; Sartori, Enrico; Valente, Enza Maria; Izzi, Claudia Journal: Prenatal diagnosis Issue: Volume 39:Number 8(2019) Page Start: 652 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. Issue 10 (15th August 2013) Authors: Savoldi, Gianfranco; Izzi, Claudia; Signorelli, Marino; Bondioni, Maria Pia; Romani, Chiara; Lanzi, Gaetana; Moratto, Daniele; Verdoni, Lucio; Pinotti, Moira; Prefumo, Federico; Superti‐Furga, Andrea; Pilotta, Alba Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2614 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗