11573/1720191 - 2024 -
An inherited TBX3 alteration in a prenatal case of ulnar‐mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster Bottillo, Irene; D'alessandro, Andrea; Ciccone, Maria Pia; Cestra, Gianluca; Di Giacomo, Gianluca; Silvestri, Evelina; Castori, Marco; Brancati, Francesco; Lenzi, Andrea; Paiardini, Alessandro; Majore, Silvia; Cenci, Giovanni; Grammatico, Paola - 01a Articolo in rivista
paper: JOURNAL OF CELLULAR PHYSIOLOGY (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 1-14 - issn: 0021-9541 - wos: WOS:001319932900001 (0) - scopus: 2-s2.0-85205253072 (0)
11573/1718047 - 2024 -
Dilated cardiomyopathy due to a novel combination of TTN and BAG3 genetic variants: From acute heart failure to subclinical phenotypes Bottillo, Irene; Giordano, Carla; Ciccone, Maria Pia; Pignataro, Maria Gemma; Albi, Fiammetta; Parisi, Gabriella; Formicola, Daniela; Grotta, Simona; Ranocchi, Federico; Giuli, Maria Valeria; Checquolo, Saula; Masuelli, Laura; Lo Re, Federica; Majore, Silvia; D'amati, Giulia; Grammatico, Paola - 01i Case report
paper: CARDIOVASCULAR PATHOLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. - - issn: 1054-8807 - wos: WOS:001293480100001 (1) - scopus: 2-s2.0-85200815242 (1)
11573/1663103 - 2023 -
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? Bottillo, Irene; Savino, Emanuele; Majore, Silvia; Mulargia, Claudia; Valiante, Michele; Ferraris, Alessandro; Rossi, Valentina; Svegliati, Francesca; Ciccone, Maria Pia; Brusco, Francesca; Grammatico, Barbara; Di Giacomo, Gianluca; Bargiacchi, Simone; D'angelantonio, Daniela; Grammatico, Paola - 01a Articolo in rivista
paper: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW
-S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. - - issn: 1018-4813 - wos: WOS:000900187200002 (4) - scopus: 2-s2.0-85144202660 (4)
11573/1663104 - 2022 -
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations Lintas, Carla; Bottillo, Irene; Sacco, Roberto; Azzarà, Alessia; Cassano, Ilaria; Ciccone, Maria Pia; Grammatico, Paola; Gurrieri, Fiorella - 01a Articolo in rivista
paper: GENES (Basel : Molecular Diversity Preservation International) pp. 2266- - issn: 2073-4425 - wos: WOS:000901353600001 (0) - scopus: 2-s2.0-85144566549 (0)