Publications by authors named "Simona Porta"

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3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.
Elisa Tassano, Sara Uccella, Thea Giacomini, Mariasavina Severino, Laura Siri, Simona Porta

Eur J Med Genet· August 2018

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Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity.
Elisa Tassano, Sara Uccella, Thea Giacomini, Pasquale Striano, Mariasavina Severino, Simona Porta

Cytogenet Genome Res· August 2018

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Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature.
Elisa Tassano, Roberta Biancheri, Laura Denegri, Simona Porta, Francesca Novara

Eur J Med Genet· July 2015

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Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.
Elisa Tassano, Marisol Mirabelli-Badenier, Edvige Veneselli, Aldamaria Puliti, Margherita Lerone, Simona Porta

Mol Cytogenet· June 2015

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Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy.
Elisa Tassano, Lucia Rosaia De Santis, Maria Franca Corona, Stefano Parmigiani, Dalila Zanetti, Simona Porta

Mol Cytogenet· February 2015

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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.
Maria Elena Celle, Cristina Cuoco, Simona Porta, Giorgio Gimelli, Elisa Tassano

Gene· December 2013

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A rare 3q13.31 microdeletion including GAP43 and LSAMP genes.
Stefania Gimelli, Massimiliano Leoni, Maja Di Rocco, Gianluca Caridi, Simona Porta

Mol Cytogenet· November 2013

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XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene.
Cristina Morerio, Vladimiro Calvari, Cristina Rosanda, Simona Porta, Claudio Gambini

Cancer Genet Cytogenet· July 2002

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