Publications by authors named "Margarita Stefanova"

15Publications

Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?

Mol Syndromol 2020 Jan 10;10(6):313-319. Epub 2019 Dec 10.

Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden.

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http://dx.doi.org/10.1159/000504818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995945PMC
January 2020

A Novel Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by Nonsense Variants.

Mol Syndromol 2020 Jan 9;10(5):281-285. Epub 2019 Oct 9.

Department of Clinical Genetics, University Hospital Linköping, Linköping, Sweden.

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http://dx.doi.org/10.1159/000502601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6997794PMC
January 2020

Hippocampal asymmetry in angiotensin II modulatory effects on learning and memory in rats.

Acta Neurobiol Exp (Wars) 2015 ;75(1):48-59

Department of Physiology and Pathophysiology, Medical University, Varna, Bulgaria.

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September 2015

UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.

Am J Med Genet A 2015 Jan 6;167A(1):204-10. Epub 2014 Oct 6.

Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.36800DOI Listing
January 2015

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.

J Hum Genet 2014 Jun 20;59(6):300-6. Epub 2014 Mar 20.

1] Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden [2] Department of Medical and Clinical Genetics, Sahlgrenska Academy, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden [3] Department of Clinical Genetics, University Hospital Linköping, Linköping, Sweden.

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http://dx.doi.org/10.1038/jhg.2014.21DOI Listing
June 2014

Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome.

Eur J Med Genet 2013 Apr 23;56(4):188-91. Epub 2013 Jan 23.

Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2013.01.004DOI Listing
April 2013

Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.

Am J Med Genet A 2007 Nov;143A(22):2668-74

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32034DOI Listing
November 2007

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.

Am J Med Genet A 2005 Feb;132A(4):386-90

Department of Medical Genetics, Medical University, Plovdiv, Bulgaria.

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http://dx.doi.org/10.1002/ajmg.a.30484DOI Listing
February 2005