Publications by authors named "Elga Belligni"

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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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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Elga Belligni

Genet Med· June 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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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, Elga Fabia Belligni

Am J Med Genet A· July 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

Am J Med Genet B Neuropsychiatr Genet· March 2016

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Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Saskia M Maas, Adam C Shaw, Hennie Bikker, Hermann-Josef Lüdecke, Karin van der Tuin, Elga Belligni

Eur J Med Genet· 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

Mol Cytogenet· December 2014

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Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
Francesca Novara, Franco Stanzial, Elena Rossi, Francesco Benedicenti, Francesca Inzana, Elga Belligni

Am J Med Genet A· August 2014

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Progressive extreme heterotopic calcification.
Margherita Silengo, Claudio Defilippi, Elga Belligni, Elisa Biamino, Elisabetta Flex

Am J Med Genet A· July 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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A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio Carta, Andrea Ciolfi, Elga Belligni

Am J Hum Genet· January 2012

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Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?
Elga F Belligni, Inderjeet Dokal, Raoul C M Hennekam

Eur J Med Genet· September 2011

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Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.
María Palomares, Alicia Delicado, Elena Mansilla, María Luisa de Torres, Elena Vallespín, Elga F Belligni

Am J Hum Genet· August 2011

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Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria N Loviglio, Elga Belligni

Orphanet J Rare Dis· June 2011

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Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems.
Elga F Belligni, Raoul C M Hennekam

Eur J Med Genet· October 2010

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MECP2 duplication in a patient with congenital central hypoventilation.
Elga F Belligni, Rodger W Palmer, Raoul C M Hennekam

Am J Med Genet A· June 2010

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Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.
Elga F Belligni, Elisa Biamino, Cristina Molinatto, Jole Messa, Mauro Pierluigi

Ital J Pediatr· April 2009

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Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.
Giovanni Battista Ferrero, Elga Belligni, Lorena Sorasio, Angelo Giovanni Delmonaco, Roberto Oggero

Am J Med Genet A· April 2006

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Myhre's syndrome in a girl with normal intelligence.
Immacolata Rulli, Giovanni Battista Ferrero, Elga Belligni, Angelo Giovanni Delmonaco, Claudio Defilippi

Am J Med Genet A· April 2005

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