1. Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: A single centre cohort analysis. Issue 4 (April 2014) Authors: Musetti, Claudio; Quaglia, Marco; Mellone, Simona; Pagani, Alessia; Fusco, Ileana; Monzani, Alice; Giordano, Mara; Stratta, Piero Journal: Nephrology Issue: Volume 19:Issue 4(2014) Page Start: 202 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Consumption of complement in a 26-year-old woman with severe thrombotic thrombocytopenia after ChAdOx1 nCov-19 vaccination. Issue 124 (November 2021) Authors: Cugno, Massimo; Macor, Paolo; Giordano, Mara; Manfredi, Marcello; Griffini, Samantha; Grovetti, Elena; De Maso, Luca; Mellone, Simona; Valenti, Luca; Prati, Daniele; Bonato, Sara; Comi, Giacomo; Artoni, Andrea; Meroni, Pier Luigi; Peyvandi, Flora Journal: Journal of autoimmunity Issue: Issue 124(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri‐Weill dyschondrosteosis. Issue 1 (23rd November 2021) Authors: Fanelli, Antonella; Vannelli, Silvia; Babu, Deepak; Mellone, Simona; Cucci, Alessia; Monzani, Alice; Al Essa, Wael; Secco, Andrea; Follenzi, Antonia; Bellone, Simonetta; Prodam, Flavia; Giordano, Mara Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 1(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. (6th August 2015) Authors: De Rienzo, Francesca; Mellone, Simona; Bellone, Simonetta; Babu, Deepak; Fusco, Ileana; Prodam, Flavia; Petri, Antonella; Muniswamy, Ranjith; De Luca, Filippo; Salerno, Mariacarolina; Momigliano‐Richardi, Patricia; Bona, Gianni; Giordano, Mara Journal: Clinical endocrinology Issue: Volume 83:Number 6(2015:Dec.) Page Start: 849 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization. (7th January 2019) Authors: Babu, Deepak; Fanelli, Antonella; Mellone, Simona; Muniswamy, Ranjith; Wasniewska, Malgorzata; Prodam, Flavia; Petri, Antonella; Bellone, Simonetta; Salerno, Maria Carolina; Giordano, Mara Journal: Clinical endocrinology Issue: Volume 90:Number 3(2019) Page Start: 449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Rare Variants in the TREX1 Gene and Susceptibility to Autoimmune Diseases. (9th October 2013) Authors: Barizzone, Nadia; Monti, Sara; Mellone, Simona; Godi, Michela; Marchini, Maurizio; Scorza, Raffaella; Danieli, Maria G.; D'Alfonso, Sandra Other Names: Gono Takahisa Academic Editor. Journal: BioMed research international Issue: Volume 2013(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Screening for haemoglobin disorders: The experience of the piedmont north‐eastern quadrant. (19th October 2020) Authors: Rolla, Roberta; Paglino, Giulia; Puricelli, Chiara; Mellone, Simona; Sciancalepore, Maurizio; Beltrami, Eleonora; Cerutti, Chiara; Piccotti, Selena; Tota, Stefania; Scotta, Annamaria; Pergolini, Patrizia; Dianzani, Umberto; Giordano, Mara Journal: International journal of laboratory hematology Issue: Volume 43:Number 2(2021) Page Start: e61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?. Issue 3 (2nd April 2020) Authors: Corrado, Lucia; Pensato, Viviana; Croce, Roberta; Di Pierro, Alice; Mellone, Simona; Dalla Bella, Eleonora; Salsano, Ettore; Paraboschi, Elvezia Maria; Giordano, Mara; Saraceno, Massimo; Mazzini, Letizia; Gellera, Cinzia; D'Alfonso, Sandra Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 21:Issue 3/4(2020) Page Start: 273 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗