1. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes. Issue 1 (December 2016) Authors: Russo, Silvia; Calzari, Luciano; Mussa, Alessandro; Mainini, Ester; Cassina, Matteo; Di Candia, Stefania; Clementi, Maurizio; Guzzetti, Sara; Tabano, Silvia; Miozzo, Monica; Sirchia, Silvia; Finelli, Palma; Prontera, Paolo; Maitz, Silvia; Sorge, Giovanni; Calcagno, Annalisa; Maghnie, Mohamad; Div... Journal: Clinical epigenetics Issue: Volume 8:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes. Issue 1 (December 2016) Authors: Russo, Silvia; Calzari, Luciano; Mussa, Alessandro; Mainini, Ester; Cassina, Matteo; Di Candia, Stefania; Clementi, Maurizio; Guzzetti, Sara; Tabano, Silvia; Miozzo, Monica; Sirchia, Silvia; Finelli, Palma; Prontera, Paolo; Maitz, Silvia; Sorge, Giovanni; Calcagno, Annalisa; Maghnie, Mohamad; Div... Journal: Clinical epigenetics Issue: Volume 8:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment. Issue 5 (21st April 2018) Authors: Alessandrella, Annalisa; Della Casa, Roberto; Alessio, Maria; Puente Prieto, Jorge; Strisciuglio, Pietro; Melis, Daniela Journal: American journal of medical genetics Issue: Volume 176:Issue 5(2018) Page Start: 1253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A pilot clinical trial with losartan in Myhre syndrome. Issue 3 (24th December 2020) Authors: Cappuccio, Gerarda; Caiazza, Martina; Roca, Alessandro; Melis, Daniela; Iuliano, Antonella; Matyas, Gabor; Rubino, Marta; Limongelli, Giuseppe; Brunetti‐Pierri, Nicola Journal: American journal of medical genetics Issue: Volume 185:Issue 3(2021) Page Start: 702 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome. Issue 7 (30th April 2017) Authors: Casertano, Alberto; Fontana, Paolo; Hennekam, Raoul C.; Tartaglia, Marco; Genesio, Rita; Dieber, Tina Barbaro; Ortega, Lucia; Nitsch, Lucio; Melis, Daniela Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1896 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques. Issue 4 (21st July 2022) Authors: Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; ... Journal: Clinical genetics Issue: Volume 102:Issue 4(2022) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome. (15th May 2020) Authors: Monda, Emanuele; Fusco, Adelaide; Melis, Daniela; Caiazza, Martina; Gragnano, Felice; Mauriello, Alfredo; Cirillo, Annapaola; Rubino, Marta; Esposito, Augusto; Grammegna, Angelina; Nistri, Stefano; Pepe, Guglielmina; Calabrò, Paolo; Strisciuglio, Pietro; Della Corte, Alessandro; Oppido, Guido; Ru... Journal: Cardiology in the young Issue: Volume 30:Number 5(2020) Page Start: 663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings. Issue 5 (17th August 2021) Authors: D'Amico, Alessandra; Rosano, Carmen; Pannone, Luca; Pinna, Valentina; Assunto, Antonia; Motta, Marialetizia; Ugga, Lorenzo; Daniele, Paola; Mandile, Roberta; Mariniello, Lucio; Siano, Maria Anna; Santoro, Claudia; Piluso, Giulio; Martinelli, Simone; Strisciuglio, Pietro; De Luca, Alessandro; Tart... Journal: Clinical genetics Issue: Volume 100:Issue 5(2021) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Complex chromosomal rearrangements causing Langer–Giedion syndrome atypical phenotype: Genotype–phenotype correlation and literature review. Issue 3 (19th December 2013) Authors: Cappuccio, Gerarda; Genesio, Rita; Ronga, Valentina; Casertano, Alberto; Izzo, Antonella; Riccio, Maria Pia; Bravaccio, Carmela; Salerno, Maria Carolina; Nitsch, Lucio; Andria, Generoso; Melis, Daniela Journal: American journal of medical genetics Issue: Volume 164:Issue 3(2014.) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗