APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature

por Privitera, Flavia, Piccini, Flavia, Recalcati, Maria Paola, Presi, Silvia, Mazzola, Silvia, Carrera, Paola
Publicado 2023

Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome

por Catusi, Ilaria, Bonati, Maria Teresa, Mainini, Ester, Russo, Silvia, Orlandini, Eleonora, Larizza, Lidia, Recalcati, Maria Paola
Publicado 2020

Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes

por Peron, Angela, Catusi, Ilaria, Recalcati, Maria Paola, Calzari, Luciano, Larizza, Lidia, Vignoli, Aglaia, Canevini, Maria Paola
Publicado 2020

New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review

por Pichiecchio, Anna, Vitale, Giovanni, Caporali, Camilla, Parazzini, Cecilia, Milani, Donatella, Recalcati, Maria Paola, D’Amico, Laura, Signorini, Sabrina, Balottin, Umberto, Bastianello, Stefano
Publicado 2018

Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region

por Redaelli, Serena, Conconi, Donatella, Sala, Elena, Villa, Nicoletta, Crosti, Francesca, Roversi, Gaia, Catusi, Ilaria, Valtorta, Chiara, Recalcati, Maria Paola, Dalprà, Leda, Lavitrano, Marialuisa, Bentivegna, Angela
Publicado 2022

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features

por 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
Publicado 2018

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

por 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
Publicado 2010

Human Chromosome 18 and Acrocentrics: A Dangerous Liaison

por Villa, Nicoletta, Redaelli, Serena, Sala, Elena, Conconi, Donatella, Romitti, Lorenza, Manfredini, Emanuela, Crosti, Francesca, Roversi, Gaia, Lavitrano, Marialuisa, Rodeschini, Ornella, Recalcati, Maria Paola, Piazza, Rocco, Dalprà, Leda, Riva, Paola, Bentivegna, Angela
Publicado 2021

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological ph...

por 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
Publicado 2012

Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases

por Redaelli, Serena, Conconi, Donatella, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Corti, Cecilia, Catusi, Ilaria, Garzo, Maria, Romitti, Lorenza, Martinoli, Emanuela, Patrizi, Antonella, Malgara, Roberta, Recalcati, Maria Paola, Dalprà, Leda, Lavitrano, Marialuisa, Riva, Paola, Roversi, Gaia, Bentivegna, Angela
Publicado 2020

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

por Catusi, Ilaria, Garzo, Maria, Capra, Anna Paola, Briuglia, Silvana, Baldo, Chiara, Canevini, Maria Paola, Cantone, Rachele, Elia, Flaviana, Forzano, Francesca, Galesi, Ornella, Grosso, Enrico, Malacarne, Michela, Peron, Angela, Romano, Corrado, Saccani, Monica, Larizza, Lidia, Recalcati, Maria Paola
Publicado 2021

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature

por Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Redaelli, Serena, Massimello, Marta, Maitz, Silvia Beatrice, Gentile, Mattia, Ponzi, Emanuela, Orsini, Paola, Zilio, Anna, Montaldi, Annamaria, Calò, Annapaola, Capra, Anna Paola, Briuglia, Silvana, La Rosa, Maria Angela, Grillo, Lucia, Romano, Corrado, Bianca, Sebastiano, Malacarne, Michela, Busè, Martina, Piccione, Maria, Larizza, Lidia
Publicado 2022

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype

por Niceta, Marcello, Pizzi, Simone, Inzana, Francesca, Peron, Angela, Bakhtiari, Somayeh, Nizon, Mathilde, Levy, Jonathan, Mancini, Cecilia, Cogné, Benjamin, Radio, Francesca Clementina, Agolini, Emanuele, Cocciadiferro, Dario, Novelli, Antonio, Salih, Mustafa A., Recalcati, Maria Paola, Arancio, Rosangela, Besnard, Marianne, Tabet, Anne‐Claude, Kruer, Michael C., Priolo, Manuela, Dallapiccola, Bruno, Tartaglia, Marco
Publicado 2022

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

por 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
Publicado 2019