Lista de obras -

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

artículo científico publicado en 2016

A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotype

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

Clinical utility gene card for: Cornelia de Lange syndrome

artículo científico publicado en 2014

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.

artículo científico publicado en 2013

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2008

Lista de obras de

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