Publications by authors named "Angela M Vianna-Morgante"

46Publications

Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing.

Ann Hum Genet 2020 Aug 6. Epub 2020 Aug 6.

The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1111/ahg.12402DOI Listing
August 2020

DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation.

Eur J Med Genet 2020 Mar 13;63(3):103737. Epub 2019 Aug 13.

Brazilian Biosciences National Laboratory (LNBio), Brazilian Center for Research in Energy and Materials (CNPEM), Campinas, SP, Brazil; Boldrini Children's Hospital, Campinas, SP, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103737DOI Listing
March 2020

Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion.

Chromosome Res 2018 09 12;26(3):191-198. Epub 2018 May 12.

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, Sao Paulo, SP, 05508-090, Brazil.

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http://link.springer.com/10.1007/s10577-018-9578-z
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http://dx.doi.org/10.1007/s10577-018-9578-zDOI Listing
September 2018

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability.

Hum Genome Var 2018 29;5:18010. Epub 2018 Mar 29.

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.

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http://www.nature.com/articles/hgv201810
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http://dx.doi.org/10.1038/hgv.2018.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694292PMC
March 2018

Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.

Eur J Med Genet 2017 Dec 4;60(12):667-674. Epub 2017 Sep 4.

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão 277, 05508-090, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1016/j.ejmg.2017.08.020DOI Listing
December 2017

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.

Mol Cytogenet 2015 30;8:106. Epub 2015 Dec 30.

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão, 277, 05508-090 São Paulo, SP Brazil.

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http://dx.doi.org/10.1186/s13039-015-0205-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696321PMC
December 2015

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

Am J Hum Genet 2014 Nov 6;95(5):565-78. Epub 2014 Nov 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225592PMC
November 2014

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.

BMC Med Genet 2013 May 7;14:50. Epub 2013 May 7.

Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, São Paulo 05508-090, Brazil.

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http://dx.doi.org/10.1186/1471-2350-14-50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658899PMC
May 2013

Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Eur J Hum Genet 2013 Oct 30;21(10):1085-92. Epub 2013 Jan 30.

1] Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden [2] Department of Molecular Medicine and Surgery and Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden [3] Department of Hand Surgery, Södersjukhuset, Stockholm, Sweden.

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http://www.nature.com/articles/ejhg2012306
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http://dx.doi.org/10.1038/ejhg.2012.306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778344PMC
October 2013

Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra.

BMC Evol Biol 2012 Mar 19;12:36. Epub 2012 Mar 19.

Departamento de Genética e Biologia Evolutiva, Universidade de São Paulo, Cidade Universitária, São Paulo, Brazil.

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http://bmcevolbiol.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2148-12-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3383463PMC
March 2012

Germline DNA copy number variation in familial and early-onset breast cancer.

Breast Cancer Res 2012 Feb 7;14(1):R24. Epub 2012 Feb 7.

National Institute of Science and Technology in Oncogenomics, AC Camargo Hospital, Rua Taguá 440, 01508-010, São Paulo, Brazil.

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http://dx.doi.org/10.1186/bcr3109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3496142PMC
February 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

The fragile x-associated tremor and ataxia syndrome (FXTAS).

Arq Neuropsiquiatr 2010 Oct;68(5):791-8

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.

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http://genoma.ib.usp.br/sites/default/files/publicacoes/the_
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http://dx.doi.org/10.1590/s0004-282x2010000500023DOI Listing
October 2010

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation.

Am J Med Genet A 2010 Sep;152A(9):2376-8

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S~ao Paulo, S~ao Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.33554DOI Listing
September 2010

Dementia in Fragile X-associated Tremor/Ataxia Syndrome.

Dement Neuropsychol 2010 Jan-Mar;4(1):79-83

PhD, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo SP, Brazil.

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http://dx.doi.org/10.1590/S1980-57642010DN40100014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5619536PMC
December 2017

Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.

Am J Med Genet A 2007 Dec;143A(23):2785-95

Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132.

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http://dx.doi.org/10.1002/ajmg.a.32036DOI Listing
December 2007

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

Am J Med Genet A 2007 Aug;143A(16):1912-8

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

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http://dx.doi.org/10.1002/ajmg.a.31863DOI Listing
August 2007

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

Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat.

Mov Disord 2007 Apr;22(6):866-70

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/mds.21347DOI Listing
April 2007

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

Am J Med Genet A 2007 Feb;143(4):320-5

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.31592DOI Listing
February 2007

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.

Am J Hum Genet 2006 Sep 3;79(3):549-55. Epub 2006 Jul 3.

Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Caixa Postal 11461, 05422-970 São Paulo, SP, Brazil.

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http://dx.doi.org/10.1086/507047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559544PMC
September 2006

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

Am J Med Genet A 2005 Dec;139(3):221-6

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.30991DOI Listing
December 2005

The ratio of maternal to paternal UPD associated with recessive diseases.

Hum Genet 2005 Jul 14;117(2-3):288-90. Epub 2005 May 14.

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http://dx.doi.org/10.1007/s00439-005-1311-2DOI Listing
July 2005

Crotamine is a novel cell-penetrating protein from the venom of rattlesnake Crotalus durissus terrificus.

FASEB J 2004 Sep 1;18(12):1407-9. Epub 2004 Jul 1.

Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Rua do Matão, 277, 05508-900, São Paulo, SP, Brasil.

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http://dx.doi.org/10.1096/fj.03-1459fjeDOI Listing
September 2004

Conservation of chromosomal location of nucleolus organizer in American marsupials (Didelphidae).

Genetica 2003 May;118(1):11-6

Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Caixa Postal 11.461, CEP 05422-970 São Paulo-SP, Brazil.

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http://dx.doi.org/10.1023/a:1022986600017DOI Listing
May 2003

Developmental changes in the ploidy of mouse implanting trophoblast cells in vitro.

Histochem Cell Biol 2003 Mar 4;119(3):189-98. Epub 2003 Mar 4.

Department of Histology and Embryology, Institute of Biomedical Sciences, University of São Paulo, Av. Prof. Lineu Prestes, 1524, 05508-900 SP, São Paulo, Brazil.

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http://dx.doi.org/10.1007/s00418-003-0500-0DOI Listing
March 2003

Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9.

Am J Med Genet A 2003 Feb;117A(1):41-6

Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.10634DOI Listing
February 2003

Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications.

Am J Med Genet 2002 Nov;113(2):144-50

Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Brazil.

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http://doi.wiley.com/10.1002/ajmg.10735
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http://dx.doi.org/10.1002/ajmg.10735DOI Listing
November 2002