Publications by authors named "Mariana Moysés-Oliveira"

21Publications

Copy number variation (CNV) identification, interpretation, and database from Brazilian patients.

Genet Mol Biol 2020 13;43(4):e20190218. Epub 2020 Nov 13.

Universidade Federal de São Paulo, Departamento de Morfologia e Genética, Disciplina de Genética, São Paulo, SP, Brazil.

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November 2020

New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders.

Curr Opin Genet Dev 2020 Dec 23;65:195-206. Epub 2020 Aug 23.

Center for Genomic Medicine, Massachusetts General Hospital, Boston MA, United States; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston MA, United States; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge MA, United States; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, United States. Electronic address:

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December 2020

Genetics of premature ovarian insufficiency and the association with X-autosome translocations.

Reproduction 2020 10;160(4):R55-R64

Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.

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October 2020

Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).

Mol Genet Genomic Med 2019 10 30;7(10):e00959. Epub 2019 Aug 30.

Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.

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October 2019

Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review.

Am J Med Genet A 2016 12 8;170(12):3271-3275. Epub 2016 Sep 8.

Division of Genetics, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.

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December 2016

Position effect modifying gene expression in a patient with ring chromosome 14.

J Appl Genet 2016 May 28;57(2):183-7. Epub 2015 Aug 28.

Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu, 740, 04023-900, São Paulo, Brazil.

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May 2016

19q13.33→qter trisomy in a girl with intellectual impairment and seizures.

Meta Gene 2014 Dec 27;2:799-806. Epub 2014 Oct 27.

Universidade Federal de São Paulo - UNIFESP, Department of Morphology and Genetics, São Paulo, Brazil.

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December 2014

Congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome due to a 6p deletion.

Sex Dev 2014 26;8(4):139-45. Epub 2014 Jun 26.

Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo, São Paulo, Brazil.

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April 2015

Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement.

Am J Med Genet B Neuropsychiatr Genet 2012 Oct 22;159B(7):823-8. Epub 2012 Aug 22.

Genetics Division, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC (1) (FMABC), São Paulo, Brazil.

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October 2012