1. Evidence of digenic inheritance in Alport syndrome. Issue 3 (9th January 2015) Authors: Mencarelli, Maria Antonietta; Heidet, Laurence; Storey, Helen; van Geel, Michel; Knebelmann, Bertrand; Fallerini, Chiara; Miglietti, Nunzia; Antonucci, Maria Fatima; Cetta, Francesco; Sayer, John A; van den Wijngaard, Arthur; Yau, Shu; Mari, Francesca; Bruttini, Mirella; Ariani, Francesca; Dahan,... Journal: Journal of medical genetics Issue: Volume 52:Issue 3(2015) Page Start: 163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Evidence of predisposing epimutation in retinoblastoma. Issue 2 (26th November 2018) Authors: Gelli, Elisa; Pinto, Anna Maria; Somma, Serena; Imperatore, Valentina; Cannone, Marta G.; Hadjistilianou, Theodora; De Francesco, Sonia; Galimberti, Daniela; Currò, Aurora; Bruttini, Mirella; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca Journal: Human mutation Issue: Volume 40:Issue 2(2019) Page Start: 201 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients. Issue 1 (9th October 2022) Authors: Bruno, Lucia Pia; Doddato, Gabriella; Baldassarri, Margherita; Rizzo, Caterina Lo; Resciniti, Sara; Bruttini, Mirella; Mirjam, Lista; Zguro, Kristina; Furini, Simone; Mencarelli, Maria Antonietta; Renieri, Alessandra; Ariani, Francesca Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exploiting the potential of next-generation sequencing in genomic medicine. (1st September 2016) Authors: Pinto, Anna Maria; Ariani, Francesca; Bianciardi, Laura; Daga, Sergio; Renieri, Alessandra Journal: Expert review of molecular diagnostics Issue: Volume 16:Number 9(2016) Page Start: 1037 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?. Issue 3 (9th January 2021) Authors: Lopergolo, Diego; Privitera, Flavia; Castello, Giuseppe; Lo Rizzo, Caterina; Mencarelli, Maria Antonietta; Pinto, Anna Maria; Ariani, Francesca; Currò, Aurora; Lamacchia, Vittoria; Canitano, Roberto; Vaghi, Elisabetta; Ferrarini, Alessandra; Baltodano, Gerardo Mejia; Lederer, Damien; Van Malderge... Journal: Clinical genetics Issue: Volume 99:Issue 3(2021) Page Start: 462 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Natural history of KBG syndrome in a large European cohort. Issue 24 (21st July 2022) Authors: Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Ann... Journal: Human molecular genetics Issue: Volume 31:Issue 24(2022) Page Start: 4131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome. (29th May 2014) Authors: Signorini, Cinzia; Leoncini, Silvia; De Felice, Claudio; Pecorelli, Alessandra; Meloni, Ilaria; Ariani, Francesca; Mari, Francesca; Amabile, Sonia; Paccagnini, Eugenio; Gentile, Mariangela; Belmonte, Giuseppe; Zollo, Gloria; Valacchi, Giuseppe; Durand, Thierry; Galano, Jean-Marie; Ciccoli, Lucia;... Other Names: Erel Ozcan Academic Editor. Journal: Oxidative medicine and cellular longevity Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Issue 17 (11th April 2022) Authors: Barish, Scott; Senturk, Mumine; Schoch, Kelly; Minogue, Amanda L; Lopergolo, Diego; Fallerini, Chiara; Harland, Jake; Seemann, Jacob H; Stong, Nicholas; Kranz, Peter G; Kansagra, Sujay; Mikati, Mohamad A; Jasien, Joan; El-Dairi, Mays; Galluzzi, Paolo; Ariani, Francesca; Renieri, Alessandra; Mari,... Journal: Human molecular genetics Issue: Volume 31:Issue 17(2022) Page Start: 2934 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Urine‐derived podocytes‐lineage cells: A promising tool for precision medicine in Alport Syndrome. Issue 2 (22nd November 2017) Authors: Daga, Sergio; Baldassarri, Margherita; Lo Rizzo, Caterina; Fallerini, Chiara; Imperatore, Valentina; Longo, Ilaria; Frullanti, Elisa; Landucci, Elisa; Massella, Laura; Pecoraro, Carmine; Garosi, Guido; Ariani, Francesca; Mencarelli, Maria Antonietta; Mari, Francesca; Renieri, Alessandra; Pinto, A... Journal: Human mutation Issue: Volume 39:Issue 2(2018) Page Start: 302 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗