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Mostrati risultati da 21 a 40 di 54
Titolo Data di pubblicazione Autore(i) File
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report 2013 Bottillo, Irene; Castori, Marco; Carmelilia De, Bernardo; Romano, Fabbri; Grammatico, Barbara; Nicoletta, Preziosi; Giovanna, Scassellati; Evelina, Silvestri; Spagnuolo, Antonella; Laino, Luigi; Grammatico, Paola
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. 2014 Castori, M; Bottillo, Irene; D'Angelantonio, Daniela; Morlino, S; De Bernardo, C; Scassellati Sforzolini, G; Silvestri, E; Grammatico, Paola
An Additional Patient With 3q27.3 Microdeletion Syndrome. 2014 Castori, M; Bottillo, Irene; Laino, Luigi; Morlino, S; Grammatico, B; Grammatico, Paola
Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation 2014 Nicita, F; Spalice, A; Bottillo, Irene; Pinna, V; Ursitti, F; Ruggieri, M.
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic. 2014 Laino, Luigi; Silvia, Majore; N., Preziosi; Grammatico, Barbara; C., De Bernardo; S., Scommegna; A. M., Rapone; G., Marrocco; Bottillo, Irene; Grammatico, Paola
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas 2015 Pinna, Valentina; Lanari, Valentina; Daniele, Paola; Consoli, Federica; Agolini, Emanuele; Margiotti, Katia; Bottillo, Irene; Torrente, Isabella; Bruselles, Alessandro; Fusilli, Caterina; Ficcadenti, Anna; Bargiacchi, Sara; Trevisson, Eva; Forzan, Monica; Giustini, Sandra; Leoni, Chiara; Zampino, Giuseppe; Digilio, Maria Cristina; Dallapiccola, Bruno; Clementi, Maurizio; Tartaglia, Marco; De Luca, Alessandro
Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3 2015 Wang, X.; Zhao, X.; Wang, X.; Yao, J.; Zhang, F.; Lang, Y.; Tuffery-Giraud, S.; Bottillo, I.; Shao, L.
Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16. 2015 Bottillo, Irene; Pediatric Craniofacial Malformation Study, Group; Grammatico, Paola; Laino, Luigi
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. 2015 Bottillo, Irene; D'Angelantonio, Daniela; Caputo, Viviana; Paiardini, Alessandro; Lipari, Martina; De Bernardo, C; Giannarelli, D; Pizzuti, Antonio; Majore, S; Castori, M; Zachara, E; Re, F; Grammatico, Paola
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review 2016 Bottillo, Irene; Giordano, Carla; Cerbelli, Bruna; D'Angelantonio, Daniela; Lipari, Martina; Polidori, Taisia; Majore, Silvia; Bertini, Enrico; D'Amico, Adele; Giannarelli, Diana; Bernardo, Carmelilia De; Masuelli, Laura; Musumeci, Francesco; Avella, Andrea; Re, Federica; Zachara, Elisabetta; D'Amati, Giulia; Grammatico, Paola
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy 2016 Bottillo, Irene; D'Angelantonio, Daniela; Caputo, Viviana; Paiardini, Alessandro; Lipari, Martina; De Bernardo, Carmelilia; Majore, Silvia; Castori, Marco; Zachara, Elisabetta; Re, Federica; Grammatico, Paola
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement 2016 Laino, Luigi; Bottillo, Irene; Piedimonte, Caterina; Bernardini, Laura; Torres, Barbara; Grammatico, Barbara; Bargiacchi, Simone; Mulargia, Claudia; Calvani, Mauro; Cardona, Francesco Carmelo Giovanni; Castori, Marco; Grammatico, Paola
Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16 2016 Castori, Marco; Bottillo, Irene; Morlino, Silvia; Barone, Chiara; Cascone, Piero; Grammatico, Paola; Laino, Luigi; Polimeni, Antonella; Pizzuti, Antonio; Silvestri, Alessandro; Roggini, Mario; Tarani, Luigi; Papoff, Paola; Giancotti, Antonella; Manganaro, Lucia; Lenzi, Jacopo; Sforzolini, Giovanna Scassellati
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria 2016 Zhao, X.; Cui, L.; Lang, Y.; Liu, T.; Lu, J.; Wang, C.; Tuffery-Giraud, S.; Bottillo, I.; Wang, X.; Shao, L.
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects 2017 Gerbino, Andrea; Bottillo, Irene; Milano, Serena; Lipari, Martina; De Zio, Roberta; Morlino, Silvia; Mola, Maria Grazia; Procino, Giuseppe; Re, Federica; Zachara, Elisabetta; Grammatico, Paola; Svelto, Maria; Carmosino, Monica
A novel germline mutation in CDK4 codon 24 associated to familial melanoma 2017 Bottillo, I; LA STARZA, SONIA ROBERTA; Radio, F C; Molica, C; Pedace, L; Pierini, T; De Bernardo, C; Stingeni, L; Bargiacchi, Sara; Paiardini, A; Janson, G; Mecucci, C; Grammatico, P
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome 2018 Brancati, Francesco; Camerota, Letizia; Colao, Emma; Vega-Warner, Virginia; Zhao, Xiangzhong; Zhang, Ruixiao; Bottillo, Irene; Castori, Marco; Caglioti, Alfredo; Sangiuolo, Federica; Novelli, Giuseppe; Perrotti, Nicola; Otto, Edgar A.; Taruscio, Domenica; Salvatore, Marco; De Stefano, Maria Chiara; Censi, Federica; Floridia, Giovanna; Brancati, Francesco; Daina, Erica; Iatropoulos, Paraskevas; Ferlini, Alessandra; Roccatello, Dario; Baldovino, Simone; Menegatti, Elisa; Bembi, Bruno
A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II 2018 Shao, L.; Cui, L.; Lu, J.; Lang, Y.; Bottillo, I.; Zhao, X.
Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report 2018 Lu, J; Zhao, X; Paiardini, A; Lang, Y; Bottillo, I; Shao, L
Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report 2018 Zhang, R; Wang, J; Wang, Q; Han, Y; Liu, X; Bottillo, I; Lang, Y; Shao, L.
Mostrati risultati da 21 a 40 di 54
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