Publications by authors named "Andrey Kirov"

11Publications

Cardiac involvement, morbidity and mortality in hereditary transthyretin amyloidosis because of p.Glu89Gln mutation.

J Cardiovasc Med (Hagerstown) 2020 Sep;21(9):688-695

Clinic of Neurology, Aleksandrovska University Hospital, Medical University Sofia.

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http://dx.doi.org/10.2459/JCM.0000000000001036DOI Listing
September 2020

Transthyretin amyloidosis: Testing strategies and model for center of excellence support.

Clin Chim Acta 2020 Oct 18;509:228-234. Epub 2020 Jun 18.

Clinic of Nervous Diseases, Alexandrovska University Hospital, Medical University - Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.cca.2020.06.029DOI Listing
October 2020

Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln Mutation.

J Gastrointestin Liver Dis 2019 Dec 9;28(4):421-426. Epub 2019 Dec 9.

Clinic of Nervous Diseases, Alexandrovska University Hospital, Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.15403/jgld-362DOI Listing
December 2019

Transthyretin Amyloidosis with Gastrointestinal Manifestation: a Case Report.

J Gastrointestin Liver Dis 2019 Sep 1;28(3):359-361. Epub 2019 Sep 1.

Medical University of Sofia, Bulgaria; Clinic of Nervous Diseases, Alexandrovska University Hospital, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.15403/JGLD-422DOI Listing
September 2019

Founder effect of the Glu89Gln mutation in the Bulgarian population.

Amyloid 2019 Dec 29;26(4):181-185. Epub 2019 Jul 29.

Genetic Medico-Diagnostic Laboratory Genica , Sofia , Bulgaria.

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http://dx.doi.org/10.1080/13506129.2019.1634539DOI Listing
December 2019

Monoallelic expression of the TTR gene as a contributor to the age at onset and penetrance of TTR-related amyloidosis.

Gene 2019 Jul 11;705:16-21. Epub 2019 Apr 11.

Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria; IMDL Genome Center "Bulgaria", Sofia, Bulgaria; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.gene.2019.04.030DOI Listing
July 2019

One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.

J Child Neurol 2014 Jun 28;29(6):799-802. Epub 2013 Feb 28.

Department of Medical Chemistry and Biochemistry, Sofia Medical University Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria.

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http://dx.doi.org/10.1177/0883073813477203DOI Listing
June 2014

A novel PCDH19 mutation inherited from an unaffected mother.

Pediatr Neurol 2012 Jun;46(6):397-400

Clinic of Child Neurology, St Naum University Hospital of Neurology and Psychiatry, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.03.004DOI Listing
June 2012

Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA.

BMJ Case Rep 2009 18;2009. Epub 2009 May 18.

Medical University, Department of Chemistry and Biochemistry, 2 Zdrave Street, Sofia 1431, Bulgaria.

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http://dx.doi.org/10.1136/bcr.06.2008.0139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3028058PMC
November 2011