Carla Graziadio

Porto Alegre, RS 90050170, Brazil

Last Updated: 09/26/2026

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Found 19 publications

16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?

16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?

Journal: Genes

Published: June 29, 2023

Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.

Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.

Journal: American journal of medical genetics. Part A

Published: October 29, 2020

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome.

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome.

Journal: Anais brasileiros de dermatologia

Published: December 14, 2019

Clinical and Molecular Characterization of Adult Glioblastomas in Southern Brazil.

Clinical and Molecular Characterization of Adult Glioblastomas in Southern Brazil.

Journal: Journal of neuropathology and experimental neurology

Published: March 07, 2019

Frequency and clinical significance of chromosome 7 and 10 aneuploidies, amplification of the EGFR gene, deletion of PTEN and TP53 genes, and 1p/19q deficiency in a sample of adult patients diagnosed with glioblastoma from Southern Brazil.

Frequency and clinical significance of chromosome 7 and 10 aneuploidies, amplification of the EGFR gene, deletion of PTEN and TP53 genes, and 1p/19q deficiency in a sample of adult patients diagnosed with glioblastoma from Southern Brazil.

Journal: Journal of neuro-oncology

Published: February 08, 2017

Hearing characterization in oculoauriculovertebral spectrum: A prospective study with 10 patients.

Hearing characterization in oculoauriculovertebral spectrum: A prospective study with 10 patients.

Journal: American journal of medical genetics. Part A

Published: March 31, 2015

Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report.

Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report.

Journal: Sao Paulo medical journal = Revista paulista de medicina

Published: November 08, 2013

Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?

Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?

Journal: Pediatric neurology

Published: October 28, 2013

Cytogenetic profile of patients with Down syndrome in southern Brazil.

Cytogenetic profile of patients with Down syndrome in southern Brazil.

Journal: Sao Paulo medical journal = Revista paulista de medicina

Published: September 05, 2013

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study.

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study.

Journal: Sao Paulo medical journal = Revista paulista de medicina

Published: June 02, 2013

Trisomy 18 and neural tube defects.

Trisomy 18 and neural tube defects.

Journal: Pediatric neurology

Published: February 22, 2013

Craniofacial abnormalities among patients with Edwards Syndrome.

Craniofacial abnormalities among patients with Edwards Syndrome.

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

Published: February 05, 2013

Showing 1-12 of 19

Last Updated: 09/26/2026