1. De novo small supernumerary marker chromosomes detected on 143 000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches. (11th February 2014) Authors: Malvestiti, Francesca; De Toffol, Simona; Grimi, Beatrice; Chinetti, Sara; Marcato, Livia; Agrati, Cristina; Di Meco, Anna Maria; Frascoli, Giuditta; Trotta, Anna; Malvestiti, Barbara; Ruggeri, Anna; Dulcetti, Francesca; Maggi, Federico; Simoni, Giuseppe; Grati, Francesca Romana Journal: Prenatal diagnosis Issue: Volume 34:Number 5(2014:May) Page Start: 460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype‐genotype correlations. (16th September 2014) Authors: Dupont, Céline; Grati, Francesca Romana; Choy, Kwong Wai; Jaillard, Sylvie; Toutain, Jérôme; Maurin, Marie‐Laure; Martínez‐Conejero, Jose Antonio; Beneteau, Claire; Coussement, Aurélie; Molina‐Gomes, Denise; Horelli‐Kuitunen, Nina; Aboura, Azzedine; Tabet, Anne‐Claude; Besseau‐Ayasse, Justine; Be... Journal: Prenatal diagnosis Issue: Volume 35:Number 1(2015:Jan.) Page Start: 35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome. Issue 2 (6th February 2014) Authors: Marcato, Livia; Turolla, Licia; Pompilii, Eva; Dupont, Celine; Gruchy, Nicolas; De Toffol, Simona; Bracalente, Gabriella; Bacrot, Severine; Troilo, Enzo; Tabet, Anne C.; Rossi, Sabrina; Delezoïde, Anne L.; Baldo, Demetrio; Leporrier, Nathalie; Maggi, Federico; Molin, Arnaud; Pilu, Gianluigi; Simo... Journal: Clinical case reports Issue: Volume 2:Issue 2(2014:Apr.) Page Start: 25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗