Search Results - "CUOCO, Cristina"

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children by Cuoco, Cristina, Ronchetto, Patrizia, Gimelli, Stefania, Béna, Frédérique, Divizia, Maria Teresa, Lerone, Margherita, Mirabelli-Badenier, Marisol, Mascaretti, Monica, Gimelli, Giorgio

“…terminal deletions of the distal portion of the short arm of chromosome 3 cause a rare contiguous gene disorder characterized by growth retardation,…”
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Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring by Capra, Valeria, Mascelli, Samantha, Garrè, Maria Luisa, Nozza, Paolo, Vaccari, Carlotta, Bricco, Lara, Sloan-Béna, Frédérique, Gimelli, Stefania, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa

“…Microarray-based comparative genomic hybridization (array-CGH) led to the discovery of genetic abnormalities among patients with complex phenotype and normal…”
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Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations by 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

“…Unbalanced translocations, that involve the proximal chromosome 15 long arm and the telomeric region of a partner chromosome, result in a karyotype of 45…”
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Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures by Celle, Maria Elena, Cuoco, Cristina, Porta, Simona, Gimelli, Giorgio, Tassano, Elisa

“…Mutations in neuronal voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A may play an important role in the etiology of neurological diseases and…”
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Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits by Tassano, Elisa, Accogli, Andrea, Pavanello, Marco, Bruno, Claudio, Capra, Valeria, Gimelli, Giorgio, Cuoco, Cristina

“…Abstract Chromosome 9p deletion represents a clinically and genetically heterogeneous condition characterized by a wide spectrum of phenotypic manifestations…”
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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 by Tassano, Elisa, Gamucci, Alessandra, Celle, Maria E, Ronchetto, Patrizia, Cuoco, Cristina, Gimelli, Giorgio

“…Interstitial 1p deletions are rare events. Very few cases of 1p31.1p31.3 deletions characterized by variable phenotypes have been reported. No clear…”
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Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature by Tassano, Elisa, Biancheri, Roberta, Denegri, Laura, Porta, Simona, Novara, Francesca, Zuffardi, Orsetta, Gimelli, Giorgio, Cuoco, Cristina

“…Abstract CHL1 gene maps at 3p26.3 and encodes a cell adhesion molecule of the immunoglobulin superfamily highly expressed in the brain. CHL1 regulates neuronal…”
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Interstitial 11q24 deletion: a new case and review of the literature by Tassano, Elisa, Janis, Sara, Canepa, Alberto, Zanotto, Elisabetta, Torello, Corrado, Gimelli, Giorgio, Cuoco, Cristina

“…We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with…”
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RORB gene and 9q21.13 microdeletion: Report on a patient with epilepsy and mild intellectual disability by Baglietto, Maria Giuseppina, Caridi, Gianluca, Gimelli, Giorgio, Mancardi, Margherita, Prato, Giulia, Ronchetto, Patrizia, Cuoco, Cristina, Tassano, Elisa

“…Abstract Copy number variants represent an important cause of neurodevelopmental disorders including epilepsy, which is genetically determined in 40% of cases…”
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Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion by 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

“…We report on the molecular characterization of a microdeletion of approximately 2.5 Mb at 2p11.2 in a female baby with left congenital aural atresia, microtia,…”
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Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature by Tassano, Elisa, Severino, Mariasavina, Rosina, Silvia, Papa, Riccardo, Tortora, Domenico, Gimelli, Giorgio, Cuoco, Cristina, Picco, Paolo

“…Deletions of the long arm of chromosome 18 cause a common autosomal syndrome clinically characterized by a protean clinical phenotype. We report on a…”
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Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation by 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

“…Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare X‐linked disorder caused by deficient activity of the lysosomal enzyme,…”
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Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders by Gimelli, Stefania, Capra, Valeria, Di Rocco, Maja, Leoni, Massimiliano, Mirabelli-Badenier, Marisol, Schiaffino, Maria Cristina, Fiorio, Patrizia, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa

“…Since the introduction of the array-CGH technique in the diagnostic workup of mental retardation, new recurrent copy number variations and novel…”
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Recurrent microdeletion 2q21.1: Report on a new patient with neurological disorders by Gimelli, Stefania, Stathaki, Elisavet, Béna, Frédérique, Leoni, Massimiliano, Di Rocco, Maja, Cuoco, Cristina, Tassano, Elisa

“…Whole genome profiling such as array comparative genomic hybridization has identified novel genomic imbalances. Copy number studies led to an explosion of the…”
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Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation by Fiorio, Patrizia, Rosaia De Santis, Lucia, Cuoco, Cristina, Gimelli, Giorgio, Gastaldi, Roberto, Bonatti, Fabrizia, Ravazzolo, Roberto, Bocciardi, Renata

“…We report on a 31-year old female who presented at genetic counseling for a small uterus, secondary amenorrhea and sterility. Gonadotropic hormone levels were…”
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New recurrent chromosome change in pediatric therapy-related myelodysplastic syndrome: unbalanced translocation 1/6 with cryptic duplication of short arm of chromosome 6 by Tassano, Elisa, Tavella, Elisa, Valli, Roberto, Micalizzi, Concetta, Cuoco, Cristina, Maserati, Emanuela, Pasquali, Francesco, Morerio, Cristina

“…Abstract The incidence of therapy-related myelodysplastic syndrome (t-MDS) in pediatric patients is increasing in parallel with the more successful management…”
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Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion by Tassano, Elisa, Mirabelli-Badenier, Marisol, Veneselli, Edvige, Puliti, Aldamaria, Lerone, Margherita, Vaccari, Carlotta Maria, Morana, Giovanni, Porta, Simona, Gimelli, Giorgio, Cuoco, Cristina

“…Interstitial 6q deletions, involving the 6q15q25 chromosomal region, are rare events characterized by variable phenotypes and no clear karyotype/phenotype…”
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Saúde coletiva e atividade física: recortes atuais de sua atuação by 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

“…Resumo O Grupo de Saúde Coletiva/Epidemiologia e Atividade Física da Unicamp apresenta recortes atuais de sua atuação no desenvolvimento de projetos técnicos a…”
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Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion by Tassano, Elisa, Accogli, Andrea, Panigada, Serena, Ronchetto, Patrizia, Cuoco, Cristina, Gimelli, Giorgio

“…Interstitial deletions of chromosome bands 14q24.1q24.3 are very rare with only three reported cases. We describe a 7-year-old boy with a 5.345 Mb de novo…”
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Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations by Severino, Mariasavina, Accogli, Andrea, Gimelli, Giorgio, Rossi, Andrea, Kotzeva, Svetlana, Di Rocco, Maja, Ronchetto, Patrizia, Cuoco, Cristina, Tassano, Elisa

“…Ring chromosome 2 is a rare constitutional abnormality that generally occurs de novo. About 14 cases have been described to date, but the vast majority of…”
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