1. A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. Issue 6 (20th October 2009) Authors: Zollino, Marcella; Orteschi, Daniela; Marangi, Giuseppe; De Crescenzo, Agostina; Pecile, Vanna; Riccio, Andrea; Neri, Giovanni Journal: Journal of medical genetics Issue: Volume 47:Issue 6(2010) Page Start: 429 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A common pattern of somatic mutations in t‐MDS/AML of patients treated with PARP inhibitors for metastatic ovarian cancer. Issue 11 (8th September 2022) Authors: Chiusolo, Patrizia; Marchetti, Claudia; Rossi, Monica; Minnella, Gessica; Salutari, Vanda; Distefano, Mariagrazia; Giammarco, Sabrina; Metafuni, Elisabetta; Minucci, Angelo; Frioni, Filippo; Gasbarrino, Cristiana; Colangelo, Maria; Orteschi, Daniela; Fagotti, Anna; Lorusso, Domenica; Pagano, Livi... Journal: American journal of hematology Issue: Volume 97:Issue 11(2022) Page Start: E400 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B‐related disorders. Issue 2 (11th December 2017) Authors: Marangi, Giuseppe; Di Giacomo, Marilena C.; Lattante, Serena; Orteschi, Daniela; Patrizi, Sara; Doronzio, Paolo N.; Riviello, Francesco N.; Vaisfeld, Alessandro; Frangella, Silvia; Zollino, Marcella Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 455 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome. Issue 2 (24th December 2020) Authors: Amenta, Simona; Frangella, Silvia; Marangi, Giuseppe; Lattante, Serena; Ricciardi, Stefania; Doronzio, Paolo Niccolò; Orteschi, Daniela; Veredice, Chiara; Contaldo, Ilaria; Zampino, Giuseppe; Gentile, Mattia; Scarano, Emanuela; Graziano, Claudio; Zollino, Marcella Journal: Journal of medical genetics Issue: Volume 59:Issue 2(2022) Page Start: 189 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: A co‐morbidity model with additional copy number variations in a large family. Issue 11 (11th October 2013) Authors: Marangi, Giuseppe; Orteschi, Daniela; Milano, Valentina; Mancano, Giorgia; Zollino, Marcella Journal: American journal of medical genetics Issue: Volume 161:Issue 11(2013:Nov.) Page Start: 2890 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients. Issue 12 (30th September 2015) Authors: Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; Orteschi, Daniela; Ricciardi, Stefania; Lattante, Serena; Murdolo, Marina; Battaglia, Domenica; Contaldo, Ilaria; Mercuri, Eugenio; Stefanini, Maria Chiara; Caumes, Roseline; Edery, Patrick; Rossi, Massimiliano; Piccione, Maria; Corsello, Gio... Journal: Journal of medical genetics Issue: Volume 52:Issue 12(2015) Page Start: 804 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes. Issue 1 (7th October 2015) Authors: Urreizti, Roser; Roca‐Ayats, Neus; Trepat, Judith; Garcia‐Garcia, Francisco; Aleman, Alejandro; Orteschi, Daniela; Marangi, Giuseppe; Neri, Giovanni; Opitz, John M.; Dopazo, Joaquin; Cormand, Bru; Vilageliu, Lluïsa; Balcells, Susana; Grinberg, Daniel Journal: American journal of medical genetics Issue: Volume 170:Issue 1(2016) Page Start: 24 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Unique Genomic Profile Associated with Pediatric Uveal Melanoma. Issue 4 (July 2015) Authors: Blasi, Maria Antonietta; Orteschi, Daniela; Pagliara, Monica M.; Coco, Giulia; Asaro, Alessia; Mulè, Antonino; Petrone, Gianluigi; Zollino, Marcella Journal: European journal of ophthalmology Issue: Volume 25:Issue 4(2015) Page Start: e31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf‐Hirschhorn syndrome–associated seizures disorder. Issue 6 (16th April 2014) Authors: Zollino, Marcella; Orteschi, Daniela; Ruiter, Mariken; Pfundt, Rolph; Steindl, Katharina; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Journal: Epilepsia Issue: Volume 55:Issue 6(2014:Jun.) Page Start: 849 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗