Publications by authors named "E F Belligni"

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Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
E Di Gregorio, E Riberi, E F Belligni, E Biamino, M Spielmann

Clin Genet· October 2017

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Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.
Eleonora Di Zanni, Annalisa Adamo, Elga Belligni, Margherita Lerone, Giuseppe Martucciello

Biochim Biophys Acta Mol Basis Dis· July 2017

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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Elga Fabia Belligni

Genome Med· July 2017

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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

Eur J Paediatr Neurol· May 2017

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Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.
Ilenia Maini, Ivan Ivanovski, Alessandro Iodice, Simonetta Rosato, Marzia Pollazzon, Elga F Belligni

Mol Syndromol· November 2016

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