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Author/Creator Cordeddu, Viviana

1. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Issue 11 (3rd August 2015)

Authors:
Cordeddu, Viviana; Yin, Jiani C.; Gunnarsson, Cecilia; Virtanen, Carl; Drunat, Séverine; Lepri, Francesca; De Luca, Alessandro; Rossi, Cesare; Ciolfi, Andrea; Pugh, Trevor J.; Bruselles, Alessandro; Priest, James R.; Pennacchio, Len A.; Lu, Zhibin; Danesh, Arnavaz; Quevedo, Rene; Hamid, Alaa; Mar...
Journal:
Human mutation
Issue:
Volume 36:Issue 11(2015:Nov.)
Page Start:
1080
Record Type:
Journal Article
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2. Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism. (March 2020)

Authors:
Martinelli, Simone; Cordeddu, Viviana; Galosi, Serena; Lanzo, Ambra; Palma, Eleonora; Pannone, Luca; Ciolfi, Andrea; Di Nottia, Michela; Rizza, Teresa; Bocchinfuso, Gianfranco; Traversa, Alice; Caputo, Viviana; Farrotti, Andrea; Carducci, Claudia; Bernardini, Laura; Cogo, Susanna; Paglione, Maria...
Journal:
Parkinsonism & related disorders
Issue:
Volume 72(2020)
Page Start:
75
Record Type:
Journal Article
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3. Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome. Issue 16 (26th March 2022)

Authors:
Motta, Marialetizia; Solman, Maja; Bonnard, Adeline A; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hülya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, ...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 16(2022)
Page Start:
2766
Record Type:
Journal Article
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4. Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation. Issue 4 (23rd January 2014)

Authors:
Gargano, Giancarlo; Guidotti, Isotta; Balestri, Eleonora; Vagnarelli, Federica; Rosato, Simonetta; Comitini, Giuseppina; Wischmeijer, Anita; La Sala, Giovanni Battista; Iughetti, Lorenzo; Cordeddu, Viviana; Rossi, Cesare; Tartaglia, Marco; Garavelli, Livia
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 4(2014.)
Page Start:
1015
Record Type:
Journal Article
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5. Noonan syndrome‐like disorder with loose anagen hair: A second case with neuroblastoma. (5th April 2015)

Authors:
Garavelli, Livia; Cordeddu, Viviana; Errico, Stefania; Bertolini, Patrizia; Street, Maria Elisabeth; Rosato, Simonetta; Pollazzon, Marzia; Wischmeijer, Anita; Ivanovski, Ivan; Daniele, Paola; Bacchini, Ermanno; Lombardi, Alfonsa Anna; Izzi, Giancarlo; Biasucci, Giacomo; Del Rossi, Carmine; Corrad...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 8(2015:Aug.)
Page Start:
1902
Record Type:
Journal Article
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6. Primrose syndrome: Characterization of the phenotype in 42 patients. Issue 6 (20th April 2020)

Authors:
Melis, Daniela; Carvalho, Daniel; Barbaro‐Dieber, Tina; Espay, Alberto J.; Gambello, Michael J.; Gener, Blanca; Gerkes, Erica; Hitzert, Marrit M.; Hove, Hanne B.; Jansen, Sandra; Jira, Petr E.; Lachlan, Katherine; Menke, Leonie A.; Narayanan, Vinodh; Ortiz, Damara; Overwater, Eline; Posmyk, Renat...
Journal:
Clinical genetics
Issue:
Volume 97:Issue 6(2020)
Page Start:
890
Record Type:
Journal Article
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