Roberta L. Dutra

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 17 publications

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability.

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability.

Journal: Scientific reports

Published: March 09, 2018

Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.

Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.

Journal: Clinics (Sao Paulo, Brazil)

Published: December 14, 2016

Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.

Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.

Journal: Cytogenetic and genome research

Published: July 11, 2016

Post-mortem cytogenomic investigations in patients with congenital malformations.

Post-mortem cytogenomic investigations in patients with congenital malformations.

Journal: Experimental and molecular pathology

Published: September 28, 2015

Corrigendum to "Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA".

Corrigendum to "Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA".

Journal: BioMed research international

Published: September 14, 2015

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.

Journal: Molecular cytogenetics

Published: February 25, 2015

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.

Journal: BioMed research international

Published: October 07, 2014

Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.

Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.

Journal: American journal of medical genetics. Part A

Published: August 19, 2014

Investigation of copy number variation in children with conotruncal heart defects.

Investigation of copy number variation in children with conotruncal heart defects.

Journal: Arquivos brasileiros de cardiologia

Published: May 31, 2014

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion.

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion.

Journal: Arquivos brasileiros de cardiologia

Published: January 06, 2014

Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome.

Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome.

Journal: Molecular genetics and genomics : MGG

Published: October 08, 2013

FGFR4 profile as a prognostic marker in squamous cell carcinoma of the mouth and oropharynx.

FGFR4 profile as a prognostic marker in squamous cell carcinoma of the mouth and oropharynx.

Journal: PloS one

Published: August 16, 2012

Showing 1-12 of 17

Last Updated: 09/26/2026