BOTTILLO, IRENE

BOTTILLO, IRENE  

DIPARTIMENTO DI MEDICINA SPERIMENTALE  

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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
Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF 2008 Carbone, A; Bernardini, L; Valenzano, F; Bottillo, Irene; De Simone, C; Capizzi, R; Capalbo, A; Romano, F; Novelli, A; Dallapiccola, B; Amerio, P.
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene 2019 Pascolini, Giulia; Majore, Silvia; Valiante, Michele; Bottillo, Irene; Laino, Luigi; Agolini, Emanuele; Novelli, Antonio; Grammatico, Barbara; Calvani, Mauro; Grammatico, Paola
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
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1 2011 Ruggieri, Martino; Mastrangelo, Mario; Spalice, Albert; Mariani, Rosanna; Torrente, Isabella; Polizzi, Agata; Bottillo, Irene; Di Biase, Claudio; Iannetti, Paola
BILATERAL (OPERCULAR AND PARACENTRAL LOBULAR) POLYMICROGYRIA AND NEUROFIBROMATOSIS TYPE 1 In corso di stampa Martino, Ruggieri; Mastrangelo, Mario; Spalice, Alberto; Rosanna, Mariani; Bottillo, Irene; Isabella, Torrente; CLAUDIO DI BIASI, ; Paola, Iannetti
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
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes 2007 Sarkozy, A; Schirinzi, A; Lepri, F; Bottillo, I; DE LUCA, A; Pizzuti, Antonio; Tartaglia, M; Digilio, Mc; DALLA PICCOLA, Bruno
Comparison of two blood-based genotyping tests to investigate the KRAS G12C mutation in patients with non-small-cell lung cancer at failure of first-line treatments 2021 Nicolazzo, Chiara; Gelibter, Alain; Bottillo, Irene; Belardinilli, Francesca; Pisegna, Simona; De Renzi, Gianluigi; Marinelli, Daniele; Grammatico, Paola; Cortesi, Enrico; Giannini, Giuseppe; Gazzaniga, Paola
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes 2008 Bernardini, L; Palka, C; Ceccarini, C; Capalbo, A; Bottillo, Irene; Mingarelli, R; Novelli, A; Dallapiccola, B.
Congenital heart defects in the recurrent 2q13 deletion syndrome 2022 Digilio, M. C.; Dentici, M. L.; Loddo, S.; Laino, L.; Calcagni, G.; Genovese, S.; Capolino, R.; Bottillo, I.; Calvieri, G.; Dallapiccola, B.; Marino, B.; Novelli, A.; Versacci, P.
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification 2007 A., De Luca; M. C., Dasdia; A., Morella; V., Lanari; L., Bernardini; Divona, Luigina; Giustini, Sandra; L., Sinibaldi; A., Novelli; I., Torrente; A., Schirinzi; DALLA PICCOLA, Bruno; Bottillo, Irene
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman 2022 Di Giosaffatte, N; Bottillo, I; Laino, L; Iaquinta, G; Ferraris, A; Garzia, M; Bargiacchi, S; Mulargia, C; Angelitti, Mr; Palumbo, F; Grammatico, B; Bartolelli, C; Salerno, Mg; Rigacci, L; Grammatico, P
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
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I 2019 Han, Y.; Zhao, X.; Wang, S.; Wang, C.; Tian, D.; Lang, Y.; Bottillo, I.; Wang, X.; Shao, L.
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
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion 2011 Pizzuti, Antonio; Bottillo, Irene; Inzana, Francesca; Valentina, Lanari; Buttarelli, Francesca Romana; Isabella, Torrente; Giallonardo, Anna Teresa; Alessandro, Luca; De Luca, A.; Bruno, Dallapiccola
Functional analysis of splicing mutations in exon 7 of NFI gene 2007 Bottillo, I.; De Luca, A.; Schirinzi, A.; Guida, V.; Torrente, I.; Calvieri, Stefano; Gervasini, C.; Larizza, L.; Pizzuti, Antonio; Dalla Piccola, Bruno
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