Mariluce Riegel

Porto Alegre, RS, Brazil

Last Updated: 09/26/2026

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Found 35 publications

Partial trisomy of 1q42.1 and 8q24.3 deletion: a family history.

Partial trisomy of 1q42.1 and 8q24.3 deletion: a family history.

Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

Published: December 30, 2025

Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases.

Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases.

Journal: Journal of community genetics

Published: September 02, 2024

invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences.

invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences.

Journal: Genes

Published: May 09, 2024

Spontaneous Pubertal Onset in a Male Patient With Mixed Gonadal Dysgenesis With Mosaicism 45,X/ 46, X, mar (Y)/ 47,X,mar(Y),+mar(Y) - Pediatric Case Report.

Spontaneous Pubertal Onset in a Male Patient With Mixed Gonadal Dysgenesis With Mosaicism 45,X/ 46, X, mar (Y)/ 47,X,mar(Y),+mar(Y) - Pediatric Case Report.

Journal: Urology

Published: May 06, 2021

Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications.

Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications.

Journal: Genes

Published: March 01, 2021

A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings.

A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings.

Journal: European journal of medical genetics

Published: November 23, 2020

Network-based analysis using chromosomal microdeletion syndromes as a model.

Network-based analysis using chromosomal microdeletion syndromes as a model.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: October 19, 2020

Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2.

Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2.

Journal: Frontiers in genetics

Published: December 06, 2019

Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20.

Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20.

Journal: Case reports in genetics

Published: November 04, 2019

Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome.

Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome.

Journal: Case reports in genetics

Published: October 15, 2019

HEMOPHAGOCYTOSIS BY BLASTS IN A CHILD WITH ACUTE MONOCYTIC LEUKEMIA AFTER CHEMOTHERAPY.

HEMOPHAGOCYTOSIS BY BLASTS IN A CHILD WITH ACUTE MONOCYTIC LEUKEMIA AFTER CHEMOTHERAPY.

Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

Published: August 13, 2019

Clinical findings in Brazilian patients with adult GM1 gangliosidosis.

Clinical findings in Brazilian patients with adult GM1 gangliosidosis.

Journal: JIMD reports

Published: January 21, 2019

Showing 1-12 of 35

Last Updated: 09/26/2026