Search Results - "Nardone, Anna Maria"

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus by SPIELMANN, Malte, BRANCATI, Francesco, FERRARI, Paola, LANDI, Antonio, WITTLER, Lars, TIMMERMANN, Bernd, CHAN, Danny, MENNEN, Ulrich, KLOPOCKI, Eva, MUNDLOS, Stefan, KRAWITZ, Peter M, ROBINSON, Peter N, IBRAHIM, Daniel M, FRANKE, Martin, HECHT, Jochen, LOHAN, Silke, DATHE, Katarina, NARDONE, Anna Maria

“…The study of homeotic-transformation mutants in model organisms such as Drosophila revolutionized the field of developmental biology, but how these mutants…”
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Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus by Daly, Adrian F, Dunnington, Leslie A, Rodriguez-Buritica, David F, Spiegel, Erica, Brancati, Francesco, Mantovani, Giovanna, Rawal, Vandana M, Faucz, Fabio Rueda, Hijazi, Hadia, Caberg, Jean-Hubert, Nardone, Anna Maria, Bengala, Mario, Fortugno, Paola, Del Sindaco, Giulia, Ragonese, Marta, Gould, Helen, Cannavò, Salvatore, Pétrossians, Patrick, Lania, Andrea, Lupski, James R, Beckers, Albert, Stratakis, Constantine A, Levy, Brynn, Trivellin, Giampaolo, Franke, Martin

“…X-linked acrogigantism (X-LAG; MIM: 300942) is a severe form of pituitary gigantism caused by chromosome Xq26.3 duplications involving GPR101. X-LAG-associated…”
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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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Interstitial deletion of a proximal 3p: A clinically recognisable syndrome by Lalli, Cristina, Galasso, Cinzia, Lo Castro, Adriana, Nardone, Anna Maria, Di Paolo, Ambrogio, Curatolo, Paolo

“…Interstitial deletions of the proximal short arm of chromosome 3 occurring as constitutional aberrations are rare and a defined clinical phenotype is not…”
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Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype by Marchionni, Enrica, D'Apice, Maria Rosaria, Lupo, Viviana, Lattanzi, Giovanna, Mattioli, Elisabetta, Lisignoli, Gina, Gabusi, Elena, Pepe, Gerardo, Helmer Citterich, Manuela, Campione, Elena, Nardone, Anna Maria, Spitalieri, Paola, Pucci, Noemi, Cocciadiferro, Dario, Picchi, Eliseo, Garaci, Francesco, Novelli, Antonio, Novelli, Giuseppe

“…gene encodes the alpha-1 chain of type-II procollagen. Heterozygous pathogenic variants are associated with the broad clinical spectrum of genetic diseases…”
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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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Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities by Gambardella, Stefano, Ciabattoni, Erika, Motta, Francesca, Stoico, Giusy, Gullotta, Francesca, Biancolella, Michela, Nardone, Anna Maria, Novelli, Antonio, Brunetti, Ercole, Bernardini, Laura, Novelli, Giuseppe

“…Stefano Gambardella1,7, Erika Ciabattoni3, Francesca Motta3, Giusy Stoico3, Francesca Gullotta2, MichelaBiancolella1,6, Anna Maria Nardone2, Antonio Novelli4,…”
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Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations by Graziani, Ludovico, Nuovo, Sara, Pisaneschi, Elisa, Carriero, Miriam Lucia, Baghernajad Salehi, Leila, Nardone, Anna Maria, Manganaro, Lucia, Novelli, Antonio, D'Apice, Maria Rosaria, Mappa, Ilenia, Novelli, Giuseppe

“…Holoprosencephaly (HPE) is the most common aberration of forebrain development, and it leads to a wide spectrum of developmental and craniofacial anomalies…”
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HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations by Hirsch, Naama, Dahan, Idit, D'haene, Eva, Avni, Matan, Vergult, Sarah, Vidal-García, Marta, Magini, Pamela, Graziano, Claudio, Severi, Giulia, Bonora, Elena, Nardone, Anna Maria, Brancati, Francesco, Fernández-Jaén, Alberto, Rory, Olson J, Hallgrímsson, Benedikt, Birnbaum, Ramon Y

“…Structural variants (SVs) can affect protein-coding sequences as well as gene regulatory elements. However, SVs disrupting protein-coding sequences that also…”
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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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Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype by Tedesco, Maria Giovanna, Lonardo, Fortunato, Ceccarini, Caterina, Cesarano, Carla, Digilio, Maria Cristina, Magliozzi, Monia, Rogaia, Daniela, Mencarelli, Amedea, Leoni, Chiara, Piscopo, Carmelo, Imperatore, Valentina, Falco, Maria Teresa, Fontana, Paolo, Nardone, Anna Maria, Novelli, Antonio, Troiani, Stefania, Seri, Marco, Prontera, Paolo

“…Feingold Syndrome type 1 (FS1) is an autosomal dominant disorder due to a loss of function mutations in the MYCN gene. FS1 is generally clinically…”
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Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study) by Grati, Francesca Romana, Bestetti, Ilaria, De Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe, Casalone, Rosario, Righi, Rossana, Raso, Barbara, Civolani, Alessandro, Muzi, Maria Cristina, Natale, Manuela, Varriale, Luigia, Gasperini, Daniela, Nuzzi, Maria Cristina, Cellamare, Angelo, Casieri, Paola, Busuito, Rosa, Ceccarini, Caterina, Cesarano, Carla, Privitera, Orsola, Melani, Daniela, Menozzi, Cristina, Falcinelli, Cristina, Calabrese, Olga, Battaglia, Paola, Tanzariello, Antonella, Stampalija, Tamara, Ardisia, Carmela, Gasparini, Paolo, Benn, Peter, Novelli, Antonio

“…Objectives To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics…”
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Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study) by Grati, Francesca Romana, Bestetti, Ilaria, de Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe, Casalone, Rosario, Righi, Rossana, Raso, Barbara, Civolani, Alessandro, Muzi, Maria Cristina, di Natale, Manuela, Varriale, Luigia, Gasperini, Daniela, Nuzzi, Maria Cristina, Cellamare, Angelo, Casieri, Paola, Busuito, Rosa, Ceccarini, Caterina, Cesarano, Carla, Privitera, Orsola, Melani, Daniela, Menozzi, Cristina, Falcinelli, Cristina, Calabrese, Olga, Battaglia, Paola, Tanzariello, Antonella, Stampalija, Tamara, Ardisia, Carmela, Gasparini, Paolo, Benn, Peter, Novelli, Antonio

“…(Abstracted from Prenat Diagn 2022;42:1575–1586 Methods for diagnosis of genetic abnormalities have recently undergone substantial improvement. Noninvasive…”
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Tremor is a major feature of 9p13 deletion syndrome by Ferreira, Susana Isabel, Cinnirella, Giacomo, Ramos, Lina, Suppa, Antonio, Pires, Luís Miguel, Nardone, Anna Maria, Camerota, Letizia, Lanciotti, Silvia, Galasso, Cinzia, De Maio, Fernando, Melo, Joana Barbosa, Carreira, Isabel Marques, Brancati, Francesco

“…Proximal interstitial deletions of chromosome 9p13 have been described only in a few patients with developmental delay, moderate intellectual disability,…”
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335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features by Alesi, Viola, Bertoli, Marta, Barrano, Giuseppe, Torres, Barbara, Pusceddu, Silvia, Pastorino, Myriam, Perria, Chiara, Nardone, Anna Maria, Novelli, Antonio, Serra, Gigliola

“…About 10% of causative mutations for mental retardation in male patients involve X chromosome (X-linked mental retardation, XLMR). We describe a case of a…”
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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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335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features by Alesi, Viola, Bertoli, Marta, Barrano, Giuseppe, Torres, Barbara, Pusceddu, Silvia, Pastorino, Myriam, Perria, Chiara, Nardone, Anna Maria, Novelli, Antonio, Serra, Gigliola

“…About 10% of causative mutations for mental retardation in male patients involve X chromosome (X-linked mental retardation, XLMR). We describe a case of a…”
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Deletion 2q37: An Identifiable Clinical Syndrome With Mental Retardation and Autism by Galasso, Cinzia, Lo-Castro, Adriana, Lalli, Cristina, Nardone, Anna Maria, Gullotta, Francesca, Curatolo, Paolo

“…Terminal deletion of the long arm of chromosome 2 is a rare chromosomal disorder characterized by low birth weight, delayed somatic and mental development,…”
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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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