Search Results - "Giardino, Daniela"

The endless quarantine: the impact of the COVID-19 outbreak on healthcare workers after three months of mandatory social isolation in Argentina by Giardino, Daniela L., Huck-Iriart, Cristián, Riddick, Maximiliano, Garay, Arturo

“…At the end of 2019 the SARS-CoV-2 outbreak spread around the globe with a late arrival to South America. The objective of this study was to evaluate the impact…”
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The “respiratory REM sleep without atonia benefit” on coexisting REM sleep behavior disorder - obstructive sleep apnea by Giardino, Daniela L., Fasano, Paola, Garay, Arturo

“…Rapid eye movement sleep behavior disorder (RBD) is a parasomnia characterized by dream-enactment behaviors that emerge during a loss of REM sleep atonia. In…”
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The rhythms of AMBEs (arousal-related motor behavioral episodes) in Agrypnia Excitata: a video motor analysis by Garay, Arturo, Giardino, Daniela L., Huck-Iriart, Cristián, Blanco, Susana, Reder, Anthony T.

“…•In Agrypnia Excitata with fatal familial insomnia (AE-FFI), oscillatory EEG rhythms appear during “pseudosleep” and atypical REM sleep.•Arousal-related motor…”
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European guidelines for constitutional cytogenomic analysis by Silva, Marisa, de Leeuw, Nicole, Mann, Kathy, Schuring-Blom, Heleen, Morgan, Sian, Giardino, Daniela, Rack, Katrina, Hastings, Ros

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Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms by Kloosterman, Wigard P., Tavakoli-Yaraki, Masoumeh, van Roosmalen, Markus J., van Binsbergen, Ellen, Renkens, Ivo, Duran, Karen, Ballarati, Lucia, Vergult, Sarah, Giardino, Daniela, Hansson, Kerstin, Ruivenkamp, Claudia A.L., Jager, Myrthe, van Haeringen, Arie, Ippel, Elly F., Haaf, Thomas, Passarge, Eberhard, Hochstenbach, Ron, Menten, Björn, Larizza, Lidia, Guryev, Victor, Poot, Martin, Cuppen, Edwin

“…Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with…”
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iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability by Alari, Valentina, Russo, Silvia, Terragni, Benedetta, Ajmone, Paola Francesca, Sironi, Alessandra, Catusi, Ilaria, Calzari, Luciano, Concolino, Daniela, Marotta, Rosa, Milani, Donatella, Giardino, Daniela, Mantegazza, Massimo, Gervasini, Cristina, Finelli, Palma, Larizza, Lidia

“…Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder characterized by distinctive facial features, growth retardation, broad thumbs and toes…”
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Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479) and c.3474G>A, p.(Trp1158) and missense c.4627G>T, p.(Asp1543Tyr) mutations by Alari, Valentina, Russo, Silvia, Rovina, Davide, Garzo, Maria, Crippa, Milena, Calzari, Luciano, Scalera, Claudia, Concolino, Daniela, Castiglioni, Elisa, Giardino, Daniela, Prosperi, Ennio, Finelli, Palma, Gervasini, Cristina, Gowran, Aoife, Larizza, Lidia

“…Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused…”
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Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features by Cirello, Valentina, Giorgini, Valentina, Castronovo, Chiara, Marelli, Susan, Mainini, Ester, Sironi, Alessandra, Recalcati, Maria Paola, Pessina, Marco, Giardino, Daniela, Larizza, Lidia, Persani, Luca, Finelli, Palma, Russo, Silvia, Fugazzola, Laura

“…Pendred syndrome (PS) is an autosomal recessive disorder due to mutations in the gene (chr7q22. 3) and characterized by sensorineural hearing loss and variable…”
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Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277) by Alari, Valentina, Russo, Silvia, Rovina, Davide, Gowran, Aoife, Garzo, Maria, Crippa, Milena, Mazzanti, Laura, Scalera, Claudia, Prosperi, Ennio, Giardino, Daniela, Gervasini, Cristina, Finelli, Palma, Pompilio, Giulio, Larizza, Lidia

“…Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused…”
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Complex rearrangement involving 9p deletion and duplication in a syndromic patient: Genotype/phenotype correlation and review of the literature by Recalcati, Maria Paola, Bellini, Melissa, Norsa, Lorenzo, Ballarati, Lucia, Caselli, Rossella, Russo, Silvia, Larizza, Lidia, Giardino, Daniela

“…We describe a 7-year-old boy with a complex rearrangement involving the whole short arm of chromosome 9 defined by means of molecular cytogenetic techniques…”
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13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature by Bestetti, Ilaria, Sironi, Alessandra, Catusi, Ilaria, Mariani, Milena, Giardino, Daniela, Manoukian, Siranoush, Milani, Donatella, Larizza, Lidia, Castronovo, Chiara, Finelli, Palma

“…The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region…”
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Longitudinal tracking of human fetal cells labeled with super paramagnetic iron oxide nanoparticles in the brain of mice with motor neuron disease by Bigini, Paolo, Diana, Valentina, Barbera, Sara, Fumagalli, Elena, Micotti, Edoardo, Sitia, Leopoldo, Paladini, Alessandra, Bisighini, Cinzia, De Grada, Laura, Coloca, Laura, Colombo, Laura, Manca, Pina, Bossolasco, Patrizia, Malvestiti, Francesca, Fiordaliso, Fabio, Forloni, Gianluigi, Morbidelli, Massimo, Salmona, Mario, Giardino, Daniela, Mennini, Tiziana, Moscatelli, Davide, Silani, Vincenzo, Cova, Lidia

“…Stem Cell (SC) therapy is one of the most promising approaches for the treatment of Amyotrophic Lateral Sclerosis (ALS). Here we employed Super Paramagnetic…”
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7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature by Caselli, Rossella, Ballarati, Lucia, Vignoli, Aglaia, Peron, Angela, Recalcati, Maria Paola, Catusi, Ilaria, Larizza, Lidia, Giardino, Daniela

“…Abstract A new 7p22.1 microduplication syndrome characterized by intellectual disability, speech delay and craniofacial dysmorphisms, such as macrocephaly,…”
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Genotype–phenotype correlations in a new case of 8p23.1 deletion and review of the literature by Ballarati, Lucia, Cereda, Anna, Caselli, Rossella, Selicorni, Angelo, Recalcati, Maria P, Maitz, Silvia, Finelli, Palma, Larizza, Lidia, Giardino, Daniela

“…Abstract We describe a 6-year-old boy carrying a de novo 5 Mb interstitial deletion of chromosome 8p23.1 identified by means of oligonucleotide array…”
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The Italian National Survey for Prader-Willi syndrome: An epidemiologic study by Grugni, Graziano, Crinò, Antonino, Bosio, Laura, Corrias, Andrea, Cuttini, Marina, De Toni, Teresa, Di Battista, Eliana, Franzese, Adriana, Gargantini, Luigi, Greggio, Nella, Iughetti, Lorenzo, Livieri, Chiara, Naselli, Arturo, Pagano, Claudio, Pozzan, Giovanni, Ragusa, Letizia, Salvatoni, Alessandro, Trifirò, Giuliana, Beccaria, Luciano, Bellizzi, Maria, Bellone, Jaele, Brunani, Amelia, Cappa, Marco, Caselli, Gabriella, Cerioni, Valeria, Delvecchio, Maurizio, Giardino, Daniela, Iannì, Francesco, Memo, Luigi, Pilotta, Alba, Pomara, Cristoforo, Radetti, Giorgio, Sacco, Michele, Sanzari, Annarosa, Sartorio, Alessandro, Tonini, Giorgio, Vettor, Roberto, Zaglia, Federico, Chiumello, Giuseppe

“…Twenty‐five medical centers and the Prader–Willi Syndrome (PWS) Association collaborated on a study which attempted to identify all people with genetically…”
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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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Genetic investigations on 8 patients affected by ring 20 chromosome syndrome by Giardino, Daniela, Vignoli, Aglaia, Ballarati, Lucia, Recalcati, Maria Paola, Russo, Silvia, Camporeale, Nicole, Marchi, Margherita, Finelli, Palma, Accorsi, Patrizia, Giordano, Lucio, La Briola, Francesca, Chiesa, Valentina, Canevini, Maria Paola, Larizza, Lidia

“…Mosaic Chromosome 20 ring [r(20)] is a chromosomal disorder associated with a rare syndrome characterized by a typical seizure phenotype, a particular…”
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Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype by Finelli, Palma, Sirchia, Silvia Maria, Masciadri, Maura, Crippa, Milena, Recalcati, Maria Paola, Rusconi, Daniela, Giardino, Daniela, Monti, Laura, Cogliati, Francesca, Faravelli, Francesca, Natacci, Federica, Zoccante, Leonardo, Bernardina, Bernardo Dalla, Russo, Silvia, Larizza, Lidia

“…The term "position effect" is used when the expression of a gene is deleteriously affected by an alteration in its chromosomal environment even though the…”
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High-mobility group A2 gene expression is frequently induced in non-functioning pituitary adenomas (NFPAs), even in the absence of chromosome 12 polysomy by Pierantoni, Giovanna Maria, Finelli, Palma, Valtorta, Emanuele, Giardino, Daniela, Rodeschini, Ornella, Esposito, Francesco, Losa, Marco, Fusco, Alfredo, Larizza, Lidia

“…The high-mobility group A2 (HMGA2) gene has a critical role in benign tumors where it is frequently rearranged, and in malignant tumors, where it is…”
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Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient by Ballarati, Lucia, Recalcati, Maria Paola, Bedeschi, Maria Francesca, Lalatta, Faustina, Valtorta, Chiara, Bellini, Melissa, Finelli, Palma, Larizza, Lidia, Giardino, Daniela

“…Abstract We describe a patient with an abnormal phenotype and a de novo CCR consisting of a reciprocal translocation between chromosomes 1 and 15 and an…”
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