Search Results - "Postorivo, Diana"

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome by Turco, Elisa Maria, Giovenale, Angela Maria Giada, Sireno, Laura, Mazzoni, Martina, Cammareri, Alessandra, Marchioretti, Caterina, Goracci, Laura, Di Veroli, Alessandra, Marchesan, Elena, D’Andrea, Daniel, Falconieri, Antonella, Torres, Barbara, Bernardini, Laura, Magnifico, Maria Chiara, Paone, Alessio, Rinaldo, Serena, Della Monica, Matteo, D’Arrigo, Stefano, Postorivo, Diana, Nardone, Anna Maria, Zampino, Giuseppe, Onesimo, Roberta, Leoni, Chiara, Caicci, Federico, Raimondo, Domenico, Binda, Elena, Trobiani, Laura, De Jaco, Antonella, Tata, Ada Maria, Ferrari, Daniela, Cutruzzolà, Francesca, Mazzoccoli, Gianluigi, Ziviani, Elena, Pennuto, Maria, Vescovi, Angelo Luigi, Rosati, Jessica

“…Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder characterized by cognitive and behavioral symptoms, obesity, and sleep disturbance, and no…”
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Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings by Novelli, Giuseppe, Romoli, Edoardo, Ruggieri, Stefano, Gambardella, Stefano, Postorivo, Diana, Nardone, Annamaria, Giardina, Emiliano, Zampatti, Stefania, Santilli, Marco, Campopiano, Rosa, Modugno, Nicola, Ferese, Rosangela, Fornai, Francesco

“…Background. Parkinson’s disease (PD) is mostly characterized by alpha-synuclein (SNCA) aggregation and loss of nigrostriatal dopamine-containing neurons. In…”
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Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7 by Turco, Elisa Maria, Vinci, Ersilia, Altieri, Filomena, Ferrari, Daniela, Torres, Barbara, Goldoni, Marina, Lamorte, Giuseppe, Tata, Ada Maria, Mazzoccoli, Gianluigi, Postorivo, Diana, Della Monica, Matteo, Bernardini, Laura, Vescovi, Angelo Luigi, Rosati, Jessica

“…CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is…”
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Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy by Columbaro, Marta, Mattioli, Elisabetta, Maraldi, Nadir M, Ortolani, Michela, Gasparini, Laura, D'Apice, Maria Rosaria, Postorivo, Diana, Nardone, Anna Maria, Avnet, Sofia, Cortelli, Pietro, Liguori, Rocco, Lattanzi, Giovanna

“…Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterised by pyramidal, cerebellar, and autonomic…”
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Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate by Catusi, Ilaria, Recalcati, Maria Paola, Bestetti, Ilaria, Garzo, Maria, Valtorta, Chiara, Alfonsi, Melissa, Alghisi, Alberta, Cappellani, Stefania, Casalone, Rosario, Caselli, Rossella, Ceccarini, Caterina, Ceglia, Carlo, Ciaschini, Anna Maria, Coviello, Domenico, Crosti, Francesca, D'Aprile, Annamaria, Fabretto, Antonella, Genesio, Rita, Giagnacovo, Marzia, Granata, Paola, Longo, Ilaria, Malacarne, Michela, Marseglia, Giuseppina, Montaldi, Annamaria, Nardone, Anna Maria, Palka, Chiara, Pecile, Vanna, Pessina, Chiara, Postorivo, Diana, Redaelli, Serena, Renieri, Alessandra, Rigon, Chiara, Tiberi, Fabiola, Tonelli, Mariella, Villa, Nicoletta, Zilio, Anna, Zuccarello, Daniela, Novelli, Antonio, Larizza, Lidia, Giardino, Daniela

“…Background Chromosomal microarray analysis (CMA) is nowadays widely used in the diagnostic path of patients with clinical phenotypes. However, there is no…”
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First evidence of Smith–Magenis syndrome in mother and daughter due to a novel RAI mutation by Acquaviva, Fabio, Sana, Maria Elena, Della Monica, Matteo, Pinelli, Michele, Postorivo, Diana, Fontana, Paolo, Falco, Maria Teresa, Nardone, Anna Maria, Lonardo, Fortunato, Iascone, Maria, Scarano, Gioacchino

“…Smith–Magenis syndrome (SMS) is a complex genetic disorder caused by interstitial 17p11.2 deletions encompassing multiple genes, including the retinoic acid…”
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Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes by Sinibaldi, Lorenzo, Parisi, Valentina, Lanciotti, Silvia, Fontana, Paolo, Kuechler, Alma, Baujat, Genevieve, Torres, Barbara, Koetting, Judith, Splendiani, Alessandra, Postorivo, Diana, Beygo, Jasmin, Garaci, Francesco G., Malan, Valerie, Lüdecke, Hermann‐Josef, Guida, Valentina, Krumbiegel, Mandy, Lonardo, Fortunato, Novelli, Antonio, Albrecht, Beate, Perria, Chiara, Scarano, Gioacchino, Spielmann, Malte, Nardone, Annamaria M., Battaglia, Agatino, Brancati, Francesco, Bernardini, Laura

“…Two distinct genomic disorders have been linked to Xq28‐gains, namely Xq28‐duplications including MECP2 and Int22h1/Int22h2‐mediated duplications involving…”
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Small 4p16.3 deletions: Three additional patients and review of the literature by Bernardini, Laura, Radio, Francesca C., Acquaviva, Fabio, Gorgone, Cristina, Postorivo, Diana, Torres, Barbara, Alesi, Viola, Magliozzi, Monia, Lonardo, Fortunato, Monica, Matteo Della, Nardone, Anna M., Cesario, Claudia, Mattina, Teresa, Scarano, Gioacchino, Dallapiccola, Bruno, Digilio, Maria C., Novelli, Antonio

“…Wolf–Hirschhorn syndrome is a well‐defined disorder due to 4p16.3 deletion, characterized by distinct facial features, intellectual disability, prenatal and…”
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Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature by Recalcati, Maria Paola, Bonati, Maria Teresa, Beltrami, Nicola, Cardarelli, Laura, Catusi, Ilaria, Costa, Asia, Garzo, Maria, Mammi, Isabella, Mattina, Teresa, Nalesso, Elisa, Nardone, Anna Maria, Postorivo, Diana, Sajeva, Anna, Varricchio, Aminta, Verri, Annapia, Villa, Nicoletta, Larizza, Lidia, Giardino, Daniela

“…Only a few subjects carrying supernumerary marker chromosomes derived from 19 chromosome (sSMC(19)) have been described to date and for a small portion of them…”
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Corrigendum to “Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant Leukodystrophy” [Biochim. Biophys. Acta, Mol. Basis Dis. 1832 (3) (March 2013) 411–420] by Columbaro, Marta, Mattioli, Elisabetta, Maraldi, Nadir M., Ortolani, Michela, Gasparini, Laura, D'Apice, Maria Rosaria, Postorivo, Diana, Nardone, Anna Maria, Avnet, Sofia, Cortelli, Pietro, Liguori, Rocco, Lattanzi, Giovanna

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Identification of i(X)(p10) as the sole molecular abnormality in atypical chronic myeloid leukemia evolved into acute myeloid leukemia by Gurnari, Carmelo, Panetta, Paola, Fabiani, Emiliano, Nardone, Anna Maria, Postorivo, Diana, Falconi, Giulia, Franceschini, Luca, Rizzo, Manuela, Rapisarda, Vito Mario, De Bellis, Eleonora, Lo-Coco, Francesco, Voso, Maria Teresa

“…The World Health Organization classifies atypical chronic myeloid leukemia (aCML) as a myeloproliferative/myelodisplastic hematological disorder. The primary…”
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Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis by Pietropolli, Adalgisa, Vicario, Roberta, Peconi, Cristina, Zampatti, Stefania, Quitadamo, Maria Chiara, Capogna, Maria Vittoria, Ragazzo, Michele, Nardone, Anna Maria, Postorivo, Diana, Spitalieri, Paola, Sarta, Simona, Ratto, Fabrizio, Novelli, Giuseppe, Sangiuolo, Federica, Piccione, Emilio, Giardina, Emiliano

“…Abstract This study reports a comparative analysis between results of transabdominal coelocentesis and traditional invasive procedure in order to assess the…”
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De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems by Lo-Castro, Adriana, El-Malhany, Nadia, Galasso, Cinzia, Verrotti, Alberto, Nardone, Anna Maria, Postorivo, Diana, Palmieri, Cristina, Curatolo, Paolo

“…Abstract Ring chromosome 18 [r(18)] is a disorder in which one or both ends of chromosome 18 are lost and joined forming a ring-shaped figures. R(18) patients…”
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De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver by Rapini, Novella, Lidano, Roberta, Pietrosanti, Silvia, Vitiello, Giuseppina, Grimaldi, Chiara, Postorivo, Diana, Nardone, Anna Maria, Del Bufalo, Francesca, Brancati, Francesco, Manca Bitti, Maria Luisa

“…Interstitial deletions of the long arm of chromosome 13 (13q) are related with variable phenotypes, according to the size and the location of the deleted…”
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Now you can! Reality & Future Applications of array CGH in prenatal diagnosis by Postorivo, Diana, Nardone, Anna Maria, Biancolella, Michela, Mesoraca, Alvaro, Novelli, Giuseppe

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