1. 126 novel mutations in Italian patients with neurofibromatosis type 1. Issue 6 (7th July 2015) Authors: Bianchessi, Donatella; Morosini, Sara; Saletti, Veronica; Ibba, Maria Cristina; Natacci, Federica; Esposito, Silvia; Cesaretti, Claudia; Riva, Daria; Finocchiaro, Gaetano; Eoli, Marica Journal: Molecular genetics & genomic medicine Issue: Volume 3:Issue 6(2015:Nov.) Page Start: 513 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. BIOM-10. PREVALENCE OF NF1 MISSENSE MUTATIONS AND CANDIDATE MODIFIER GENES IN SPINAL NEUROFIBROMATOSIS PATIENTS. (9th November 2020) Authors: Riva, Paola; Bianchessi, Donata; Mangano, Eleonora; Cesaretti, Claudia; Bettinaglio, Paola; Bordoni, Roberta; Tritto, Viviana; Battaglia, Cristina; Cagnoli, Giulia; Saletti, Veronica; Melone, Marina; Schettino, Carla; Natacci, Federica; Finocchiaro, Gaetano; Eoli, Marica Journal: Neuro-oncology Issue: Volume 22(2020)Supplement 2 Page Start: ii3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum. (January 2016) Authors: Natacci, Federica; Alfei, Enrico; Tararà, Lucia; D'Arrigo, Stefano; Zuffardi, Orsetta; Gentilin, Barbara; Pantaleoni, Chiara Journal: European journal of paediatric neurology Issue: Volume 20:Number 1(2016:Jan.) Page Start: 183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma. Issue 7 (24th February 2016) Authors: Galbiati, Silvia; Monguzzi, Alessandra; Damin, Francesco; Soriani, Nadia; Passiu, Marianna; Castellani, Carlo; Natacci, Federica; Curcio, Cristina; Seia, Manuela; Lalatta, Faustina; Chiari, Marcella; Ferrari, Maurizio; Cremonesi, Laura Journal: Journal of medical genetics Issue: Volume 53:Issue 7(2016) Page Start: 481 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Congenital Myasthenic Syndrome Due to Choline Acetyltransferase Mutations in Infants: Clinical Suspicion and Comprehensive Electrophysiological Assessment Are Important for Early Diagnosis. (March 2014) Authors: Dilena, Robertino; Abicht, Angela; Sergi, Paola; Comi, Giacomo P.; Fonzo, Alessio Di; Chidini, Giovanna; Natacci, Federica; Barbieri, Sergio; Lochmüller, Hanns Journal: Journal of child neurology Issue: Volume 29:Number 3(2014:Mar.) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome. (27th May 2022) Authors: Rinaldi, Berardo; Cesaretti, Claudia; Boito, Simona; Villa, Roberta; Guerneri, Silvana; Borzani, Irene; Rizzuti, Tommaso; Marchetti, Daniela; Conte, Giorgio; Cinnante, Claudia; Triulzi, Fabio; Persico, Nicola; Iascone, Maria; Natacci, Federica Other Names: Van den Veyver Igna guestEditor. Journal: Prenatal diagnosis Issue: Volume 42:Number 7(2022) Page Start: 927 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome. Issue 7 (21st May 2013) Authors: Van Lierde, Andrea; Menni, Francesca; Bedeschi, Maria Francesca; Natacci, Federica; Guez, Sophie; Vizziello, Paola; Costantino, Maria Antonella; Lalatta, Faustina; Esposito, Susanna Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1666 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis1. Issue 2 (16th January 2013) Authors: Cesaretti, Claudia; Melloni, Giulia; Quagliarini, Donatella; Fogliani, Roberto; Zaina, Barbara; Bedeschi, Maria Francesca; Lalatta, Faustina; Trespidi, Laura; Natacci, Federica Journal: American journal of medical genetics Issue: Volume 161:Issue 2(2013:Feb.) Page Start: 386 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation: Highlighting an Uncommon Chromosomal Abnormality. (November 2013) Authors: Baranello, Giovanni; Cesaretti, Claudia; Zambonin, Fabio; Casalone, Rosario; Granata, Paola; Esposito, Silvia; Alfei, Enrico; Natacci, Federica Journal: Journal of child neurology Issue: Volume 28:Number 11(2013) Page Start: 1463 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings. (19th July 2022) Authors: Ronzoni, Luisa; Boito, Simona; Meossi, Camilla; Cesaretti, Claudia; Rinaldi, Berardo; Agolini, Emanuele; Rizzuti, Tommaso; Pezzoli, Laura; Silipigni, Rosamaria; Novelli, Antonio; Iascone, Maria; Persico, Nicola; Natacci, Federica Journal: Prenatal diagnosis Issue: Volume 42:Number 12(2022) Page Start: 1493 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗