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Author/Creator Pinna, Valentina

1. Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy. Issue 8 (6th May 2019)

Authors:
Motta, Marialetizia; Giancotti, Antonella; Mastromoro, Gioia; Chandramouli, Balasubramanian; Pinna, Valentina; Pantaleoni, Francesca; Di Giosaffatte, Niccolò; Petrini, Stefania; Mazza, Tommaso; D'Ambrosio, Valentina; Versacci, Paolo; Ventriglia, Flavia; Chillemi, Giovanni; Pizzuti, Antonio; Tarta...
Journal:
Human mutation
Issue:
Volume 40:Issue 8(2019)
Page Start:
1046
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. 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) ↗

3. 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) ↗