Publications by authors named "Alessandro Calcia"

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Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
Elisa Giorgio, Alessandro Brussino, Elisa Biamino, Elga Fabia Belligni, Alessandro Bruselles, Alessandro Calcia

Eur J Paediatr Neurol· May 2017

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Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Elisa Giorgio, Andrea Ciolfi, Elisa Biamino, Viviana Caputo, Eleonora Di Gregorio, Alessandro Calcia

Am J Med Genet A· July 2016

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Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
Eleonora Di Gregorio, Giorgia Gai, Giovanni Botta, Alessandro Calcia, Patrizia Pappi

Cytogenet Genome Res· June 2016

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A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.
Elisa Biamino, Eleonora Di Gregorio, Elga Fabia Belligni, Roberto Keller, Evelise Riberi, Alessandro Calcia

Am J Med Genet B Neuropsychiatr Genet· March 2016

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Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
Elisa Giorgio, Giovanna Vaula, Giovanni Bosco, Sara Giacone, Cecilia Mancini, Alessandro Calcia

J Neurol Sci· May 2015

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Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.
Eleonora Di Gregorio, Elisa Savin, Elisa Biamino, Elga Fabia Belligni, Valeria Giorgia Naretto, Alessandro Calcia

Mol Cytogenet· December 2014

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A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.
Giorgia Mandrile, Eleonora Di Gregorio, Alessandro Calcia, Alessandro Brussino, Enrico Grosso

Case Rep Genet· December 2014

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ELOVL5 mutations cause spinocerebellar ataxia 38.
Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, Daniela Lacerenza, Marta Ferrero, Alessandro Calcia

Am J Hum Genet· August 2014

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Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes.
Alessandro Calcia, Giorgia Gai, Eleonora Di Gregorio, Flavia Talarico, Valeria G Naretto

Am J Med Genet A· October 2013

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A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.
Eleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, Alessandra M A Chiotto, Marco Rolando, Alessandro Calcia

J Med Genet· August 2013

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790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism.
Elga Fabia Belligni, Eleonora Di Gregorio, Elisa Biamino, Alessandro Calcia, Cristina Molinatto

Eur J Med Genet· March 2012

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