ARIANI, FRANCESCA

ARIANI, FRANCESCA  

Dipartimento di Biotecnologie Mediche  

Mostra records
Risultati 1 - 20 di 90 (tempo di esecuzione: 0.0 secondi).
Titolo Data di pubblicazione Autore(i) File Abstract
13q deletion syndrome involving rb1: Characterization of a new minimal critical region for psychomotor delay 1-gen-2021 Privitera, F.; Calonaci, A.; Doddato, G.; Papa, F. T.; Baldassarri, M.; Pinto, A. M.; Mari, F.; Longo, I.; Caini, M.; Galimberti, D.; Hadjistilianou, T.; De Francesco, S.; Renieri, A.; Ariani, F. -
14q12 Microdeletion syndrome and congenital variant of Rett syndrome. 1-gen-2009 Mencarelli, Ma; Kleefstra, T; Katzaki, E; Papa, Ft; Cohen, M; Pfundt, R; Ariani, Francesca; Meloni, Ilaria; Mari, Francesca; Renieri, Alessandra; Papa, FILOMENA TIZIANA -
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears 1-gen-2007 Caselli, R; Mencarelli, Ma; Papa, Ft; Uliana, V; Schiavone, S; Strambi, M; Pescucci, C; Ariani, Francesca; Rossi, V; Longo, I; Meloni, I; Renieri, Alessandra; Mari, F.; Papa, FILOMENA TIZIANA -
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 1-gen-2008 Papa, F. T.; Mencarelli, M. A.; Caselli, R.; Katzaki, E.; Sampieri, K.; Meloni, I.; Ariani, F.; Longo, I.; Maggio, A.; Balestri, P.; Grosso, S.; Farnetani, M. A.; Berardi, R.; Mari, F.; Renieri, A. -
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 1-gen-2010 Uliana, V.; Grosso, S.; Cioni, M.; Ariani, F.; Pap, A. F. T.; Tamburello, S.; Rossi, E.; Katzaki, E.; Mucciolo, M.; Marozza, A.; Pollazzon, M.; Mencarelli, M. A.; Mari, F.; Balestri, P.; Renieri, A. -
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 1-gen-2017 Gross, Oliver; Kashtan, Clifford E; Rheault, Michelle N; Flinter, Frances; Savige, Judith; Miner, Jeffrey H; Torra, Roser; Ars, Elisabet; Deltas, Constantinos; Savva, Isavella; Perin, Laura; Renieri, Alessandra; Ariani, Francesca; Mari, Francesca; Baigent, Colin; Judge, Parminder; Knebelman, Bertrand; Heidet, Laurence; Lagas, Sharon; Blatt, Dave; Ding, Jie; Zhang, Yanqin; Gale, Daniel P; Prunotto, Marco; Xue, Yong; Schachter, Asher D; Morton, Lori C. G; Blem, Jacqui; Huang, Michael; Liu, Shiguang; Vallee, Sebastien; Renault, Daniel; Schifter, Julia; Skelding, Jules; Gear, Susie; Friede, Tim; Turner, A. Neil; Lennon, Rachel -
Advances in Alport syndrome diagnosis using next-generation sequencing. 1-gen-2012 Artuso, R; Fallerini, C; Dosa, L; Scionti, F; Clementi, M; Garosi, G; Massella, L; Epistolato, Mc; Mancini, R; Mari, Francesca; Longo, I; Ariani, Francesca; Renieri, Alessandra; Bruttini, Mirella -
Alport syndrome: impact of digenic inheritance in patients management 1-gen-2017 Fallerini, Chiara; Baldassarri, Margherita; Trevisson, Eva; Morbidoni, Valeria; La Manna, Angela; Lazzarin, Roberta; Pasini, Andrea; Barbano, Giancarlo; Pinciaroli, Angela Rosa; Garosi, Guido; Frullanti, Elisa; Pinto, ANNA MARIA; Mencarelli, MARIA ANTONIETTA; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca -
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice 1-gen-2015 Frullanti, Elisa; Amabile, Sonia; Lolli, Maria Grazia; Bartolini, Anna; Livide, Gabriella; Landucci, Elisa; Mari, Francesca; Vaccarino, Flora M; Ariani, Francesca; Massimino, Luca; Renieri, Alessandra; Meloni, Ilaria -
Analysis of optineurin gene in italian primary open angle glaucoma 1-gen-2003 Frezzotti, Paolo; I., Longo; F., Borgia; A., Caporossi; C., Pescucci; Ariani, Francesca; M., Bruttini; A., Serra; N., Orzalesi; S., Gandolfi; M. G., Bucci; F. M., Grignolo; L. G., Tomazzoli; R., Frezzotti; Renieri, Alessandra -
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 1-gen-2009 Sampieri, K; Amenduni, M; Papa, Ft; Katzaki, E; Mencarelli, Ma; Marozza, A; Epistolato, Mc; Toti, Paolo; Lazzi, Stefano; Bruttini, M; De Filippis, R; DE FRANCESCO, Sonia; Longo, I; Meloni, Ilaria; Mari, Francesca; Acquaviva, Antonio; Hadjistilianou, Theodora; Renieri, Alessandra; Ariani, Francesca; Papa, FILOMENA TIZIANA -
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case. 1-gen-2006 Mari, Francesca; Giachino, D; Russo, L; Pilia, G; Ariani, Francesca; Scala, E; Chiappe, F; Sampieri, K; Caporossi, A; Renieri, Alessandra; Lasorella, G. -
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 1-gen-2005 Mari, F.; Azimonti, S.; Bertani, I.; Bolognese, F.; Colombo, E.; Caselli, R.; Scala, E.; Longo, I.; Grosso, S.; Pescucci, C.; Ariani, F.; Hayek, G.; Balestri, P.; Bergo, A.; Badaracco, G.; Zappella, M.; Broccoli, V.; Renieri, A.; Kilstrup-Nielsen, C.; Landsberger, N. -
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 1-gen-2005 Scala, E; Ariani, Francesca; Mari, Francesca; Caselli, R; Pescucci, C; Longo, I; Meloni, I; Giachino, D; Bruttini, M; Hayek, G; Zappella, M; Renieri, Alessandra -
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features. 1-gen-2003 Pescucci, C; Meloni, I; Bruttini, M; Ariani, Francesca; Longo, I; Mari, Francesca; Canitano, R; Hayek, G; Zappella, M; Renieri, Alessandra -
Clinical and molecular characterization of Italian patients affected by Cohen syndrome. 1-gen-2007 Katzaki, E; Pescucci, C; Uliana, V; Papa, Ft; Ariani, Francesca; Meloni, I; Priolo, M; Selicorni, A; Milani, D; Fischetto, R; Celle, Me; Grasso, R; Dallapiccola, B; Brancati, F; Bordignon, M; Tenconi, R; Federico, Antonio; Mari, Francesca; Renieri, Alessandra; Longo, I.; Papa, FILOMENA TIZIANA -
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation. 1-gen-2008 Caselli, R.; Mencarelli, M. A.; Papa, F. T.; Ariani, Francesca; Longo, I.; Meloni, I.; Vonella, G.; Acampa, M.; Auteri, A.; Vicari, S.; Orsi, A.; Hayek, G.; Renieri, A.; Mari, Francesca; Papa, FILOMENA TIZIANA -
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). 1-gen-2008 Renieri, A; Mari, Francesca; Mencarelli, Ma; Scala, E; Ariani, Francesca; Longo, I; Meloni, Ilaria; Cevenini, Gabriele; Pini, G; Hayek, G; Zappella, M. -
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). 1-gen-2009 Renieri, Alessandra; Mari, Francesca; Mencarelli, Ma; Scala, E; Ariani, Francesca; Longo, I; Meloni, Ilaria; Cevenini, Gabriele; Pini, G; Hayek, G; Zappella, M. -
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. 1-gen-2009 Artuso, R; Mencarelli, Ma; Polli, R; Sartori, S; Ariani, Francesca; Pollazzon, M; Marozza, A; Cilio, Mr; Specchio, N; Vigevano, F; Vecchi, M; Boniver, C; Bernardina, Bd; Parmeggiani, A; Buoni, S; Hayek, G; Mari, Francesca; Renieri, Alessandra; Murgia, A. -