Emilia Stellacci

Emilia Stellacci

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Emilia Stellacci

Emilia Stellacci

Publications by authors named "Emilia Stellacci"

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The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies.

Clin Genet 2019 Dec 4;96(6):585-589. Epub 2019 Sep 4.

Dipartimento Pediatrie Specialistiche, U. O. Reumatologia, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13632DOI Listing
December 2019

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

Am J Med Genet A 2016 09 20;170(9):2389-93. Epub 2016 Jun 20.

Genetic Disorders and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37681DOI Listing
September 2016

Mutations in PAX2 associate with adult-onset FSGS.

J Am Soc Nephrol 2014 Sep 27;25(9):1942-53. Epub 2014 Mar 27.

Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts;

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http://dx.doi.org/10.1681/ASN.2013070686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147972PMC
September 2014

Mutations in ZBTB20 cause Primrose syndrome.

Nat Genet 2014 Aug 13;46(8):815-7. Epub 2014 Jul 13.

1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2] Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [3].

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http://dx.doi.org/10.1038/ng.3035DOI Listing
August 2014

Interaction between the glucocorticoid and erythropoietin receptors in human erythroid cells.

Exp Hematol 2009 May;37(5):559-72

Department of Infectious, Parasitic and Immunomediated Diseases, University of Chieti-Pescara, Chieti, Italy.

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http://dx.doi.org/10.1016/j.exphem.2009.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689622PMC
May 2009

Repression of interferon regulatory factor 1 by hepatitis C virus core protein results in inhibition of antiviral and immunomodulatory genes.

J Virol 2007 Jan 18;81(1):202-14. Epub 2006 Oct 18.

Department of Infectious, Parasitic and Immunomediated Diseases, Istituto Superiore di Sanità, Viale Regina Elena, 299 Rome 00161, Italy.

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http://dx.doi.org/10.1128/JVI.01011-06DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1797261PMC
January 2007

Analysis of the signal transduction pathway leading to human immunodeficiency virus-1-induced interferon regulatory factor-1 upregulation.

Ann N Y Acad Sci 2004 Dec;1030:187-95

Department of Infectious, Parasitic, and Immunomediated Diseases, Istituto Superiore di Sanità, Viale Regina Elena, 299-00161 Rome, Italy.

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http://dx.doi.org/10.1196/annals.1329.024DOI Listing
December 2004

On the role of interferon regulatory factors in HIV-1 replication.

Ann N Y Acad Sci 2003 Dec;1010:29-42

Laboratory of Virology, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161 Rome, Italy.

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http://dx.doi.org/10.1196/annals.1299.005DOI Listing
December 2003