Publications - Page 12 of 29 - ERN ITHACA

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

Beecroft SJ, Ayala M, McGillivray G, Nanda V, Agolini E, Novelli A, Digilio MC, Dotta A, Carrozzo R, Clayton J, Gaffney L, McLean CA, Ng J, Laing NG, Matteson P, Millonig J, Ravenscroft G

Human mutation. 2021;42(5):506–19
Recognition Memory in Noonan Syndrome

Costanzo F, Alfieri P, Caciolo C, Bergonzini P, Perrino F, Zampino G, Leoni C, Menghini D, Digilio MC, Tartaglia M, Vicari S, Carlesimo GA

Brain sciences. 2021 Jan 29;11(2)
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study

Alfieri P, Caciolo C, Lazzaro G, Menghini D, Cumbo F, Dentici ML, Digilio MC, Gnazzo M, Demaria F, Pironi V, Zampino G, Novelli A, Tartaglia M, Vicari S

Journal of clinical medicine. 2021 Apr 6;10(7)
Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript

Colletti M, Galardi A, Miele E, di Paolo V, Russo I, de Stefanis C, de Vito R, Rinelli M, Ciolfi A, de Angelis B, Zin A, Guffanti A, Digilio MC, Novelli A, Alaggio R, Milano GM, di Giannatale A

International journal of molecular sciences. 2021 May 22;22(11)
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study

Alfieri P, Caciolo C, Lazzaro G, Menghini D, Cumbo F, Dentici ML, Digilio MC, Gnazzo M, Demaria F, Pironi V, Zampino G, Novelli A, Tartaglia M, Vicari S

Journal of clinical medicine. 2021 Apr 6;10(7)
Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript

Colletti M, Galardi A, Miele E, di Paolo V, Russo I, de Stefanis C, de Vito R, Rinelli M, Ciolfi A, de Angelis B, Zin A, Guffanti A, Digilio MC, Novelli A, Alaggio R, Milano GM, di Giannatale A

International journal of molecular sciences. 2021 May 22;22(11)
Temperature Differentially Influences the Capacity of Trichoderma Species to Induce Plant Defense Responses in Tomato Against Insect Pests

di Lelio I, Coppola M, Comite E, Molisso D, Lorito M, Woo SL, Pennacchio F, Rao R, Digilio MC

Frontiers in plant science. 2021;12:678830
Dysregulated miRNAs in bone cells of patients with Gorham-Stout disease

Rossi M, Rana I, Buonuomo PS, Battafarano G, Mariani E, D’Agostini M, Porzio O, de Martino V, Minisola S, Macchiaiolo M, de Vito R, Vecchio D, Gonfiantini MV, Jenkner A, Bartuli A, del Fattore A

FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2021;35(3):e21424
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

Mastrogiorgio G, Macchiaiolo M, Buonuomo PS, Bellacchio E, Bordi M, Vecchio D, Brown KP, Watson NK, Contardi B, Cecconi F, Tartaglia M, Bartuli A

Orphanet journal of rare diseases. 2021;16(1):112
Evolocumab in the management of children

Buonuomo PS, Mastrogiorgio G, Leone G, Rana I, Gonfiantini MV, Macchiaiolo M, Vecchio D, Gnazzo M, Bartuli A

Atherosclerosis. 2021;324:148–50