Amalia Dutra

Amalia Dutra

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Amalia Dutra

Amalia Dutra

Publications by authors named "Amalia Dutra"

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Multiomic Profiling Identifies cis-Regulatory Networks Underlying Human Pancreatic β Cell Identity and Function.

Cell Rep 2019 Jan;26(3):788-801.e6

The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA; Department of Genetics and Genome Sciences, University of Connecticut, Farmington, CT 06032, USA; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.12.083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389269PMC
January 2019

Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer.

Hum Mol Genet 2018 08;27(16):2830-2839

Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA.

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http://dx.doi.org/10.1093/hmg/ddy191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6077802PMC
August 2018

Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.

Hum Genet 2015 Jul 5;134(7):775-87. Epub 2015 May 5.

Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive Rm 6E450, Bethesda, MD, 20892, USA,

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http://dx.doi.org/10.1007/s00439-015-1550-9DOI Listing
July 2015

Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype.

JIMD Rep 2015 1;20:57-63. Epub 2015 Feb 1.

Section on Translational Neuroscience, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Porter Neuroscience Research Center II, National Institutes of Health, Building 35, Room 2D-971, 35A Convent Drive, MSC 3754, Bethesda, MD, 20892-3754, USA.

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http://dx.doi.org/10.1007/8904_2014_391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375122PMC
March 2015

Long term maintenance of myeloid leukemic stem cells cultured with unrelated human mesenchymal stromal cells.

Stem Cell Res 2015 Jan 6;14(1):95-104. Epub 2014 Dec 6.

Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.scr.2014.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634876PMC
January 2015

Generation of a cre recombinase-conditional Nos1ap over-expression transgenic mouse.

Biotechnol Lett 2014 Jun 22;36(6):1179-85. Epub 2014 Feb 22.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway, Baltimore, MD, 21205, USA,

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http://dx.doi.org/10.1007/s10529-014-1473-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850732PMC
June 2014

Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples.

Mol Genet Metab 2012 Nov 21;107(3):586-91. Epub 2012 Sep 21.

Dept of Pediatrics, University of California San Francisco, San Francisco, CA 91413, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.09.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3483425PMC
November 2012

Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.

Genes Chromosomes Cancer 2012 May 17;51(5):429-37. Epub 2012 Jan 17.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD 20852, USA.

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http://dx.doi.org/10.1002/gcc.21928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295917PMC
May 2012

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Neuron 2011 Oct 21;72(2):257-68. Epub 2011 Sep 21.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200438PMC
October 2011

Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):158-69

Medical Genetics Branch of the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3717, USA.

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http://dx.doi.org/10.1002/ajmg.c.30235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815073PMC
February 2010

DNA damage responses by human ELG1 in S phase are important to maintain genomic integrity.

Cell Cycle 2009 Oct 7;8(19):3199-207. Epub 2009 Oct 7.

Genome Instability Section, Genetics and Molecular Biology Branch, National Institutes of Health, Bethesda, MD, USA.

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http://www.tandfonline.com/doi/abs/10.4161/cc.8.19.9752
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2880862PMC
http://dx.doi.org/10.4161/cc.8.19.9752DOI Listing
October 2009

EGFRvIII expression and PTEN loss synergistically induce chromosomal instability and glial tumors.

Neuro Oncol 2009 Feb 23;11(1):9-21. Epub 2008 Sep 23.

Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA 01605, USA.

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http://dx.doi.org/10.1215/15228517-2008-081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718963PMC
February 2009

Advantages of q-PCR as a method of screening for gene targeting in mammalian cells using conventional and whole BAC-based constructs.

Nucleic Acids Res 2008 Oct 18;36(18):e117. Epub 2008 Aug 18.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/nar/gkn523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2566865PMC
October 2008

Comparative sequence analyses reveal sites of ancestral chromosomal fusions in the Indian muntjac genome.

Genome Biol 2008 Oct 28;9(10):R155. Epub 2008 Oct 28.

Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, 50 South Drive, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1186/gb-2008-9-10-r155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2760882PMC
October 2008

An unstable targeted allele of the mouse Mitf gene with a high somatic and germline reversion rate.

Genetics 2008 Jan;178(1):259-72

Mammalian Development Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-3706, USA.

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http://dx.doi.org/10.1534/genetics.107.081893DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2206076PMC
January 2008

Chromosome 8 BAC array comparative genomic hybridization and expression analysis identify amplification and overexpression of TRMT12 in breast cancer.

Genes Chromosomes Cancer 2007 Jul;46(7):694-707

Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1002/gcc.20454DOI Listing
July 2007

Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform.

Hum Mol Genet 2006 Jan 15;15(2):319-27. Epub 2005 Dec 15.

F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania School of Medicine, Philadelphia, USA.

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http://dx.doi.org/10.1093/hmg/ddi449DOI Listing
January 2006

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?

Am J Med Genet A 2004 Aug;129A(1):69-72

Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30071
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http://dx.doi.org/10.1002/ajmg.a.30071DOI Listing
August 2004

Improved generation of C57BL/6J mouse embryonic stem cells in a defined serum-free media.

Genesis 2004 Jun;39(2):100-4

Genetic Diseases Research Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.

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http://doi.wiley.com/10.1002/gene.20031
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http://dx.doi.org/10.1002/gene.20031DOI Listing
June 2004

Organization and annotation of the Xcat critical region: elimination of seven positional candidate genes.

Genomics 2004 May;83(5):893-901

F.M. Kirby Center for Molecular Ophthalmology, University of Pennsylvania School of Medicine, 422 Curie Boulevard, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ygeno.2003.10.010DOI Listing
May 2004

Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

Nature 2003 May 25;423(6937):293-8. Epub 2003 Apr 25.

Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA.

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http://dx.doi.org/10.1038/nature01629DOI Listing
May 2003

Differentiation of human bone marrow-derived cells into buccal epithelial cells in vivo: a molecular analytical study.

Lancet 2003 Mar;361(9363):1084-8

National Institute of Dental and Craniofacial Research, Gene Therapy and Therapeutics Branch National Institutes of Health, Bethesda, MD 20892-1190, USA.

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http://dx.doi.org/10.1016/S0140-6736(03)12894-2DOI Listing
March 2003

The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion.

Proc Natl Acad Sci U S A 2002 Oct 19;99(20):12991-6. Epub 2002 Sep 19.

Food and Drug Administration, Center for Biologics Evaluation and Research, Rockville, MD 20852, USA.

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http://dx.doi.org/10.1073/pnas.192219599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC130574PMC
October 2002

Functional and structural characterization of the human gene BHLHB5, encoding a basic helix-loop-helix transcription factor.

Genomics 2002 Sep;80(3):311-8

Laboratory of Molecular and Developmental Biology, National Eye Institute, Bethesda, Maryland 20890, USA.

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http://dx.doi.org/10.1006/geno.2002.6833DOI Listing
September 2002