List of works - Angelo Selicorni

14q32.3-qter trisomic segment: a case report and literature review

scientific article published on 05 August 2016

A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotype

scientific article published on 22 January 2013

Aortic dilation in Sotos syndrome: An underestimated feature?

scientific article published on 14 April 2020

Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome

scientific article published on 8 April 2014

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire

scientific article published on 25 March 2015

Children with special health care needs attending emergency department in Italy: analysis of 3479 cases

scientific article published on 23 November 2020

Clinical utility gene card for: Cornelia de Lange syndrome

scientific article

Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum

scientific article published on 09 July 2020

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

scientific article

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype

scientific article published on 07 February 2020

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

scientific article

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

scientific article published on 3 April 2013

Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review

scientific article

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

scientific article published on 22 February 2012

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype

scientific article published on 8 January 2013

Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?

scientific article published on 21 May 2020

Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome

scientific article published on 01 February 2008

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

scientific article published on 22 April 2014

Pulmonary function in Williams-Beuren syndrome: Spirometric data of 22 Italian patients

scientific article published on 10 November 2020

The dark side of COVID-19: The need of integrated medicine for children with special care needs

scientific article published on 24 June 2020

Two cases of hepatic adenomas in patients with Wolf-Hirschhorn syndrome: a new rare complication?

scientific article published on 21 May 2013

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort

scientific article published on 21 September 2018

Videoendoscopic rehabilitation of iatrogenous Stensen-duct-acquired atresia in a patient with ring chromosome 21 syndrome and drooling

scientific article published in November 2008

List of works by Angelo Selicorni

14q32.3-qter trisomic segment: a case report and literature review

A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotype

Aortic dilation in Sotos syndrome: An underestimated feature?

Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire

Children with special health care needs attending emergency department in Italy: analysis of 3479 cases

Clinical utility gene card for: Cornelia de Lange syndrome

Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype

Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?

Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

Pulmonary function in Williams-Beuren syndrome: Spirometric data of 22 Italian patients

The dark side of COVID-19: The need of integrated medicine for children with special care needs

Two cases of hepatic adenomas in patients with Wolf-Hirschhorn syndrome: a new rare complication?

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort

Videoendoscopic rehabilitation of iatrogenous Stensen-duct-acquired atresia in a patient with ring chromosome 21 syndrome and drooling