Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children
Cuoco, Cristina, Ronchetto, Patrizia, Gimelli, Stefania, Béna, Frédérique, Divizia, Maria Teresa, Lerone, Margherita, Mirabelli-Badenier, Marisol, Mascaretti, Monica, Gimelli, Giorgio
Published in Orphanet journal of rare diseases (01.04.2011)
Published in Orphanet journal of rare diseases (01.04.2011)
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Journal Article
Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring
Capra, Valeria, Mascelli, Samantha, Garrè, Maria Luisa, Nozza, Paolo, Vaccari, Carlotta, Bricco, Lara, Sloan-Béna, Frédérique, Gimelli, Stefania, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
Published in PloS one (06.03.2013)
Published in PloS one (06.03.2013)
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Journal Article
Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations
MIGNON-RAVIX, Cécile, DEPETRIS, Danielle, KROISEL, Peter M, MATTEI, Marie-Geneviève, LUCIANI, Judith J, CUOCO, Cristina, KRAJEWSKA-WALASEK, Malgorzata, MISSIRIAN, Chantal, COLLIGNON, Patrick, DELOBEL, Bruno, CROQUETTE, Marie-Francoise, MONCLA, Anne
Published in European journal of human genetics : EJHG (01.04.2007)
Published in European journal of human genetics : EJHG (01.04.2007)
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Journal Article
Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures
Celle, Maria Elena, Cuoco, Cristina, Porta, Simona, Gimelli, Giorgio, Tassano, Elisa
Published in Gene (15.12.2013)
Published in Gene (15.12.2013)
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Journal Article
Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits
Tassano, Elisa, Accogli, Andrea, Pavanello, Marco, Bruno, Claudio, Capra, Valeria, Gimelli, Giorgio, Cuoco, Cristina
Published in European journal of medical genetics (01.01.2016)
Published in European journal of medical genetics (01.01.2016)
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Journal Article
Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment
Tassano, Elisa, Gamucci, Alessandra, Celle, Maria E., Ronchetto, Patrizia, Cuoco, Cristina, Gimelli, Giorgio
Published in Cytogenetic and genome research (01.01.2015)
Published in Cytogenetic and genome research (01.01.2015)
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Journal Article
Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature
Tassano, Elisa, Biancheri, Roberta, Denegri, Laura, Porta, Simona, Novara, Francesca, Zuffardi, Orsetta, Gimelli, Giorgio, Cuoco, Cristina
Published in European journal of medical genetics (01.11.2014)
Published in European journal of medical genetics (01.11.2014)
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Journal Article
Interstitial 11q24 deletion: a new case and review of the literature
Tassano, Elisa, Janis, Sara, Canepa, Alberto, Zanotto, Elisabetta, Torello, Corrado, Gimelli, Giorgio, Cuoco, Cristina
Published in Journal of applied genetics (01.08.2016)
Published in Journal of applied genetics (01.08.2016)
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Journal Article
RORB gene and 9q21.13 microdeletion: Report on a patient with epilepsy and mild intellectual disability
Baglietto, Maria Giuseppina, Caridi, Gianluca, Gimelli, Giorgio, Mancardi, Margherita, Prato, Giulia, Ronchetto, Patrizia, Cuoco, Cristina, Tassano, Elisa
Published in European journal of medical genetics (01.01.2014)
Published in European journal of medical genetics (01.01.2014)
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Journal Article
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion
Tassano, Elisa, Jagannathan, Vidhya, Drögemüller, Cord, Leoni, Massimiliano, Hytönen, Marjo K., Severino, Mariasavina, Gimelli, Stefania, Cuoco, Cristina, Di Rocco, Maja, Sanio, Kirsi, Groves, Andrew K., Leeb, Tosso, Gimelli, Giorgio
Published in American journal of medical genetics. Part A (01.03.2015)
Published in American journal of medical genetics. Part A (01.03.2015)
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Journal Article
Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature
Tassano, Elisa, Severino, Mariasavina, Rosina, Silvia, Papa, Riccardo, Tortora, Domenico, Gimelli, Giorgio, Cuoco, Cristina, Picco, Paolo
Published in Molecular cytogenetics (10.10.2016)
Published in Molecular cytogenetics (10.10.2016)
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Journal Article
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation
Lonardo, Fortunato, Di Natale, Paola, Lualdi, Susanna, Acquaviva, Fabio, Cuoco, Cristina, Scarano, Francesca, Maioli, Marianna, Pavone, Luigi Michele, Di Gregorio, Grazia, Filocamo, Mirella, Scarano, Gioacchino
Published in American journal of medical genetics. Part A (01.10.2014)
Published in American journal of medical genetics. Part A (01.10.2014)
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Journal Article
Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders
Gimelli, Stefania, Capra, Valeria, Di Rocco, Maja, Leoni, Massimiliano, Mirabelli-Badenier, Marisol, Schiaffino, Maria Cristina, Fiorio, Patrizia, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
Published in Molecular cytogenetics (13.08.2014)
Published in Molecular cytogenetics (13.08.2014)
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Journal Article
Recurrent microdeletion 2q21.1: Report on a new patient with neurological disorders
Gimelli, Stefania, Stathaki, Elisavet, Béna, Frédérique, Leoni, Massimiliano, Di Rocco, Maja, Cuoco, Cristina, Tassano, Elisa
Published in American journal of medical genetics. Part A (01.03.2014)
Published in American journal of medical genetics. Part A (01.03.2014)
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Journal Article
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation
Fiorio, Patrizia, Rosaia De Santis, Lucia, Cuoco, Cristina, Gimelli, Giorgio, Gastaldi, Roberto, Bonatti, Fabrizia, Ravazzolo, Roberto, Bocciardi, Renata
Published in Gynecological endocrinology (02.01.2016)
Published in Gynecological endocrinology (02.01.2016)
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Journal Article
New recurrent chromosome change in pediatric therapy-related myelodysplastic syndrome: unbalanced translocation 1/6 with cryptic duplication of short arm of chromosome 6
Tassano, Elisa, Tavella, Elisa, Valli, Roberto, Micalizzi, Concetta, Cuoco, Cristina, Maserati, Emanuela, Pasquali, Francesco, Morerio, Cristina
Published in Leukemia & lymphoma (01.12.2012)
Published in Leukemia & lymphoma (01.12.2012)
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Journal Article
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion
Tassano, Elisa, Mirabelli-Badenier, Marisol, Veneselli, Edvige, Puliti, Aldamaria, Lerone, Margherita, Vaccari, Carlotta Maria, Morana, Giovanni, Porta, Simona, Gimelli, Giorgio, Cuoco, Cristina
Published in Molecular cytogenetics (28.04.2015)
Published in Molecular cytogenetics (28.04.2015)
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Journal Article
Saúde coletiva e atividade física: recortes atuais de sua atuação
Gonçalves, Aguinaldo, Moura, Ana Claudia da Silvia, Vicentin, Ana Paula Martins, Léo, Carla Cristina Cuoco, Del Vecchio, Fabrício Boscolo, Mantellini, Glauca Gonçalves, Castro, Gláucia Cristina de, Pasetti, Sérgio Ricardo
Published in Conexões (Universidade Estadual de Campinas. Faculdade de Educação Física) (05.11.2007)
Published in Conexões (Universidade Estadual de Campinas. Faculdade de Educação Física) (05.11.2007)
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Journal Article
Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations
Severino, Mariasavina, Accogli, Andrea, Gimelli, Giorgio, Rossi, Andrea, Kotzeva, Svetlana, Di Rocco, Maja, Ronchetto, Patrizia, Cuoco, Cristina, Tassano, Elisa
Published in Molecular cytogenetics (05.03.2015)
Published in Molecular cytogenetics (05.03.2015)
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