An inherited TBX3 alteration in a prenatal case of ulnar‐mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster.

Autor: 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

Publikováno v: Journal of Cellular Physiology; Dec2024, Vol. 239 Issue 12, p1-14, 14p

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Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations.

Autor: Lintas, Carla, Bottillo, Irene, Sacco, Roberto, Azzarà, Alessia, Cassano, Ilaria, Ciccone, Maria Pia, Grammatico, Paola, Gurrieri, Fiorella

Publikováno v: Genes; Dec2022, Vol. 13 Issue 12, p2266, 12p

Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy.

Autor: Bottillo I; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy. Electronic address: irene.bottillo@uniroma1.it., Ciccone MP; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy., Magliozzi M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, Italy., Pilichou K; Department Cardiac-Thoraci-Vascular Sciences and Public Health, University of Padua- University Hospital Padua, 35121 Padova, Italy., Girotto G; Institute for Maternal and Child Health - I.R.C.C.S. 'Burlo Garofolo', Trieste, Italy; Department of Medicine, Surgery and Health Sciences, University of Trieste,Trieste, Italy., Girolami F; Cardiogenetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Cecconi M; Human Genetic Laboratory, IRCCS Istituto Giannina Gaslini, Genoa, Italy., D'Argenio V; CEINGE-Biotecnologie Avanzate Franco Salvatore, Napoli, Italy., Novelli V; Centro Cardiologico Monzino, Italy., Coiana A; Department of Medical Science and Public Health, University of Cagliari, Laboratory of Genetics and Genomics, Pediatric Hospital Microcitemico 'A. Cao', Cagliari, Italy., Formicola D; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy., Micaglio E; Department of Cardiac Electrophysiology and Clinical Arrhythmology, IRCCS Policlinico San Donato, Milan, Italy., Tortora G; Medical Genetics and Rare Diseases Unit, Azienda Ospedaliero-Universitaria delle Marche, Ancona, Italy., Gualandi F; Unit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara 44121, Italy., Petrucci S; Department of Clinical and Molecular Medicine, Faculty of Medicine and Psycology, Sapienza, University of Rome, Italy; S. Andrea University Hospital, 00189 Rome, Italy., Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Resta N; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, University Hospital Consortium Polyclinic of Bari, 70124 Bari, Italy., Vestri AR; Department of Public Health and Infectious Diseases, Sapienza University of Rome, 00185 Rome, Italy., Iascone M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy., Grammatico P; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.

Publikováno v: Journal of molecular and cellular cardiology [J Mol Cell Cardiol] 2024 Dec 12; Vol. 199, pp. 46-50. Date of Electronic Publication: 2024 Dec 12.