Publications by authors named "Juliana F Mazzeu"

23Publications

Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.

Am J Med Genet A 2020 Sep 21. Epub 2020 Sep 21.

Section of Psychology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.61854DOI Listing
September 2020

Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.

Am J Med Genet A 2020 11 5;182(11):2632-2640. Epub 2020 Sep 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.61843DOI Listing
November 2020

50 years of Robinow syndrome.

Am J Med Genet A 2020 09 21;182(9):2005-2007. Epub 2020 Jul 21.

Department of Human Genetics, Radboud Institute for Cognitive Neuroscience DCN, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.61756DOI Listing
September 2020

Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4.

Am J Med Genet A 2020 08 20;182(8):1861-1864. Epub 2020 May 20.

Programa de Pós-Graduação em Ciências Médicas, Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.61620DOI Listing
August 2020

Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions.

Mol Syndromol 2019 Jul 21;10(4):202-208. Epub 2019 Jun 21.

Programa de Pós-Graduação em Ciências da Saúde, Faculdade de Ciências da Saúde, Universidade de Brasília, Brasília, Brazil.

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http://dx.doi.org/10.1159/000501008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6738255PMC
July 2019

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing.

Hear Res 2018 12 16;370:181-188. Epub 2018 Oct 16.

Departamento de Genética e Morfologia, Universidade de Brasília, Brasília, Brazil; Programa de Pós-graduação em Biologia Animal, Universidade de Brasília, Brasília, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.heares.2018.10.008DOI Listing
December 2018

Integrated assessment of toxic effects of maghemite (γ-FeO) nanoparticles in zebrafish.

Aquat Toxicol 2017 Oct 8;191:219-225. Epub 2017 Aug 8.

Department of Genetics and Morphology, Institute of Biological Sciences, University of Brasília-UnB, Brasília, DF, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.aquatox.2017.08.004DOI Listing
October 2017

Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.

Am J Med Genet A 2017 May 31;173(5):1152-1158. Epub 2017 Mar 31.

Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.38172DOI Listing
May 2017

Concurrent Loss of Heterozygosity and Mosaic Deletion of 12p13.32pter.

Cytogenet Genome Res 2016 2;148(2-3):174-8. Epub 2016 Jun 2.

Programas de Px00F3;s-graduax00E7;x00E3;o em Cix00EA;ncias da Sax00FA;de, Universidade de Brasx00ED;lia, Brasx00ED;lia, Brazil.

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http://dx.doi.org/10.1159/000445853DOI Listing
January 2017

Partial 1q Duplications and Associated Phenotype.

Mol Syndromol 2016 Feb 4;6(6):297-303. Epub 2016 Feb 4.

Programa de Pós-graduação em Ciências da Saúde, São Paulo, Brazil; Faculdade de Medicina, Universidade de Brasília, São Paulo, Brazil.

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http://dx.doi.org/10.1159/000443599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803000PMC
February 2016

Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16).

Arq Bras Endocrinol Metabol 2012 Nov;56(8):564-9

Molecular Pharmacology Laboratory, Faculty of Health Sciences, Universidade de Brasília, Brasília, DF, Brazil.

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http://dx.doi.org/10.1590/s0004-27302012000800017DOI Listing
November 2012

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.

Am J Med Genet A 2011 Oct 9;155A(10):2479-83. Epub 2011 Sep 9.

Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.34023DOI Listing
October 2011

Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome.

Am J Med Genet A 2007 Aug;143A(15):1790-5

Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.31661DOI Listing
August 2007