List of works - Ilária Cristina Sgardioli

22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening

scientific article published on March 2015

A Rare Case of Concomitant Deletions in 15q11.2 and 19p13.3

scientific article published on 09 October 2018

A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion ⬇️

scientific article published on April 6, 2013

A recognizable phenotype related to 19p13.12 microdeletion

scientific article published on 28 July 2018

Atypical copy number abnormalities in 22q11.2 region: report of three cases

scientific article published on 23 July 2013

Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome

scientific article published on 09 November 2020

Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities

scientific article published on 7 May 2014

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

scientific article published on 26 February 2013

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.

scientific article published on 24 June 2017

Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report

scientific article published on 30 October 2014

Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing.

scientific article published on 21 October 2012

Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.

scientific article published in June 2017

Genomic imbalances in craniofacial microsomia

scientific article published on 20 November 2020

Genomic imbalances in syndromic congenital heart disease.

scientific article published on 20 March 2017

Improved detection of Helicobacter pylori DNA in formalin-fixed paraffin-embedded (FFPE) tissue of patients with hepatocellular carcinoma using laser capture microdissection (LCM).

scientific article

Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

scientific article published on 18 September 2012

Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances

scientific article published on 21 March 2019

Pure 21q22.3 deletion identified in a patient with mild phenotypic features.

scientific article published on 11 January 2018

Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health.