Publications by authors named "Mauricio De Castro"

17Publications

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.

J Inherit Metab Dis 2020 Aug 4. Epub 2020 Aug 4.

Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/jimd.12298DOI Listing
August 2020

Educating military primary health-care providers in genomic medicine: lessons learned from the MilSeq Project.

Genet Med 2020 Oct 10;22(10):1710-1717. Epub 2020 Jul 10.

Air Force Medical Genetics Center, Keesler Air Force Base, Biloxi, MS, USA.

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http://dx.doi.org/10.1038/s41436-020-0865-7DOI Listing
October 2020

Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.

J Inherit Metab Dis 2018 Nov;41(6):1295

Grup de Recerca en Malalties Neuromusculars i Neuropediatriques, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-018-0236-6DOI Listing
November 2018

Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.

J Inherit Metab Dis 2018 11 20;41(6):1027-1035. Epub 2018 Jun 20.

Grup de Recerca en Malalties Neuromusculars i Neuropediatriques, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Barcelona, Spain.

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http://link.springer.com/10.1007/s10545-018-0203-2
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http://dx.doi.org/10.1007/s10545-018-0203-2DOI Listing
November 2018

Mandibular canal branching assessed with cone beam computed tomography.

Radiol Med 2018 Aug 16;123(8):601-608. Epub 2018 Apr 16.

Department of Oral Surgery and Pathology, School of Dentistry, Federal University of Minas Gerais, Av. Antonio Carlos, 6627. Pampulha, Belo Horizonte, MG, 31.270-010, Brazil.

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http://dx.doi.org/10.1007/s11547-018-0886-3DOI Listing
August 2018

Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services.

Mol Genet Genomic Med 2017 11 14;5(6):617-620. Epub 2017 Sep 14.

Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland, 20889.

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http://dx.doi.org/10.1002/mgg3.335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702576PMC
November 2017

Johann Gregor Mendel: paragon of experimental science.

Mol Genet Genomic Med 2016 Jan 8;4(1):3-8. Epub 2016 Jan 8.

United States Air Force Medical Genetics Center 81st Medical Group Keesler AFB Biloxi MS.

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http://dx.doi.org/10.1002/mgg3.199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707027PMC
January 2016

Genomic medicine in the military.

NPJ Genom Med 2016 13;1:15008. Epub 2016 Jan 13.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Partners Personalized Medicine, Broad Institute and Harvard Medical School, Boston, MA, USA.

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http://www.nature.com/articles/npjgenmed20158
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http://dx.doi.org/10.1038/npjgenmed.2015.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685294PMC
January 2016

Response to Nogales-Gadea et al.

Genet Med 2015 Aug;17(8):680-1

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Betheseda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2015.80DOI Listing
August 2015

Genetics and genomic medicine in Colombia.

Mol Genet Genomic Med 2015 Mar;3(2):84-91

Unidad de Genética, DCB, Universidad Del Rosario Bogotá, Colombia.

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http://dx.doi.org/10.1002/mgg3.139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367080PMC
March 2015

Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.

Genet Med 2015 Dec 5;17(12):1002-6. Epub 2015 Mar 5.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://www.nature.com/articles/gim20159
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http://dx.doi.org/10.1038/gim.2015.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561039PMC
December 2015

Severe neonatal holocarboxylase synthetase deficiency in west african siblings.

JIMD Rep 2015 18;20:1-4. Epub 2015 Feb 18.

Medical Genetics Branch, Department of Health and Human Services, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3717, Room 1B207, Bethesda, MD, 20892-3717, USA,

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http://dx.doi.org/10.1007/8904_2014_367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375121PMC
March 2015

Medial preoptic area adrenergic receptors modulate glycemia and insulinemia in freely moving rats.

Brain Res 2003 Sep;985(1):56-64

Department of Physiology and Biophysics, Institute of Biological Science, Federal University of Minas Gerais, Av. Antônio Carlos 6627, 31270-901 Belo Horizonte, MG, Brazil.

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http://dx.doi.org/10.1016/s0006-8993(03)03158-5DOI Listing
September 2003