М-р Марија Ѓорѓиевска

2018 – во тек
Докторски студии по фармација, област генетика,
Универзитет ”Свети Кирил и Методиј”, Фармацевтски факултет – Скопје, Македонија

2013 – 2016
Постдипломски студии – Молекуларна Биологија,
Универзитет ”Свети Кирил и Методиј”, Природно Математички факултет, Скопје, Македонија

2008 – 2012
Додипломски студии – Молекуларна Биологија,
Универзитет ”Свети Кирил и Методиј”, Природно Математички факултет, Скопје, Македонија

2004 – 2008
Средно медицинско образование – медицинска сестра-техничар
,,Др. Панче Караѓозов‘‘, Скопје, Македонија.

2020 – во тек
Молекуларен билог – Лабораторија за Генетика и Персонализирана Медицина,
Клиничка болница Жан Митрев, Скопје, Македонија

2012 – 2013
Волонтер – Истражувачки центар за генетско инженерство и биотехнологија „Георги Д. Ефремов“, Македонска Академија на Науки и Уметности, Скопје, Македонија

2013 – 2020
Соработник истражувач – сектор за Геномика – Истражувачки центар за генетско инженерство и биотехнологија „Георги Д. Ефремов“, Македонска Академија на Науки и Уметности, Скопје, Македонија

2023
2022 VIP-A: Variant Interpretation Only Program, Educational activity, The College of American Pathologists, Remote Session, July 22, 2023.

2022
2021 VIP-A: Variant Interpretation Only Program, Educational activity, The College of American Pathologists, Remote Session, April 5, 2022.

2021
Training for Preimplantation Genetic Testing, using ReproSeq PGS kit and Ion Torrent instrument, Thermo Fisher Scientific, Skopje, North Macedonia, August 24-27, 2021.

Training for third generation sequencing Oxford Nanopore platform, using MinION instrument, Skopje North Macedonia, January 2021.

Bioinformatic training – 10H, Miltiple Remote Sessions, for Ion Torrent and Chef Instruments, Thermo Fisher Scientific, April-May, 2021.

2019
Ecost-training_school, COST Action CA17118, Action Title: Identifying Biomarkers Through Translational Research for Prevention and Stratification of Colorectal Cancer (TRANSCOLONCAN), Training School on Risk Modeling, Barcelona, Spain, January 21-23, 2019.

2016
5th course in Next Generation Sequencing, Bertinoro di Romagna, Italy, May 4-7, 2016.

2015
Next Generation Sequencing data analysis training, Centre for Mendelian Genomics, Institute of Genetics, Medical Faculty, Ljubljana, Slovenija, November 15-21, 2015.

Array Comparative Genomic Hybridization (aCGH) training, Research Center for Genetic Engineering and Biotechnology, Skopje, North Macedonia, September, 2015.

Illumina MiSeq system workflow, Research Center for Genetic Engineering and Biotechnology, Skopje, North Macedonia, April, 2015.

iMODE-CKD Workshop, Chronic Kidney Disease: Clinical Management Issues, Skopje, North Macedonia, March 21, 2015.

2014
Genomics of Rare Diseases SERBORDISinn& 2014 Golden Helix Symposium, Belgrade, Serbia, October 31 – November 1, 2014.

“The 6th EFIS-EJI South Eastern European Immunology School” – Concepts in Immunology,Timisoara, Romania, September 26- 29, 2014.

УЧЕСТВО НА СТРУЧНИ СОСТАНОЦИ И КОНФЕРЕНЦИИ

Chakraborty С, Martines C, Porro F, Fortunati I, Bonato A, Dimishkovska M, Piazza S, Yadav S B, Innocenti I, Fazio R, Vaisitti T, Deaglio S, Zamò A, Dimovski A, Laurenti L, Efremov D G. Combined Genetic Lesions in TP53 and CDKN2A/CDKN2B Drive B Cell Receptor-Dependent/Costimulatory Signal-Independent Proliferation in Richter Syndrome. November 2020. Blood 136(Supplement 1):5-6. DOI: 10.1182/blood-2020-136668. Conference: CLL: BIOLOGY AND PATHOPHYSIOLOGY, EXCLUDING THERAPY

Valentina Jovanovska, Dijana Plaseska-Karanfilska, Marija Dimishkovska, Rozana Kacarska, Konstandina Kuzevska Maneva,  Beti Gjurkova Angelovska,  Marija Neskovska Shumenkovska. Infant with restrictive cardiomyopathydue to double heterozygosity for TTN mutations. 7th South East European meeting on rare diseases, June 7-9, 2019, Struga, Republic of North Macedonia.

Dimishkovska, V. Sabolic Avramovska, E. Sukarova-Angelovska, M. Kocova, D. Plaseska-Karanfilska. Neurofibromatosis type 1 mutational spectrum in Macedonian patients: A report of seven novel pathogenic variants. The European Human Genetics Conference 2019, June 15-18, 2019, Gothenburg, Sweden.

Predrag Noveski, Marija Terzic, Toso Plaseski, Marija Dimishkovska, Milena Jakimovska, Dijana Plaseska-Karanfilska. Using next-generation sequencing technology for genetic diagnosis of globozoospermia. Workshop “Next generation diagnostics” 2018, March 22-24, Skopje, North Macedonia.

Sukarova Stefanovska E, Bozhinovski Gj, Trajkova-Antevska Z, Dimishkovska M, Plaseska-Karanfilska D. A novel variant His2174Asn in F8 gene in a child with hemophilia A intermedia. Workshop “Next generation diagnostics” 2018, March 22-24, Skopje, North Macedonia.

Dimishkovska M, Sabolic Avramovska V, Kocova M, Plaseska-Karanfilska D. Six novel mutations detected during the first genetic study of Neurofibromatosis type 1 in the Republic of North Macedonia. Workshop “Next generation diagnostics” 2018, March 22-24, Skopje, North Macedonia.

Dimishkovska M, Gucev Z, Kocheva S, Mulliqi Kotori V, Tasic V, Polenakovic M, Plaseska-Karanfilska D. Novel mutation in FANCA gene (c.3446_3449dupCCCT) in two unrelated patients from North Macedonia and Kosovo. 5^th Meeting of SEE for Rare Diseases,12^th November, 2016, Skopje, North Macedonia.

Dimishkovska M, Kocheva S, Plaseska-Karanfilska D. Targeted next generation sequencing identifies a novel mutation in FANCA gene. The European Human Genetics Conference 2016, May 21-24, 2016, Barcelona, Spain.

Dimishkovska M, Gucev Z, Tasic V, Polenakovic M, Plaseska-Karanfilska D. Complex phenotype of isolated growth hormone deficiency accompanied with myopathy, red hair and obesity: hunt for new genes. 11th Balkan Congress of Human Genetics, September 17, 2015, Belgrade, Serbia.

Gucev Z, Tasic V, Dimishkovska M, Plaseska-Karanfilska D, Polenakovic M, Pfaffle R. IGF1-R gene alterations in children born small for gestational age (SGA). 3^rd Rare in SEE meeting, 2014, Skopje, North Macedonia.

Gjorgjievska M, Bozhinovski G, Sukarova-Angelovska E, Kocova M, Muaremoska Kanzoska L, Plaseska-Karanfilska D. Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants. Balkan Med J. 2023 Jul 12;40(4):252-261. doi: 10.4274/balkanmedj.galenos.2023.2022-12-28. Epub 2023 Apr 19.

Gjorgjievska M, Mehandziska S, Stajkovska A, Pecioska-Dokuzovska S, Dimovska A, Durmish I, Ismail S, Pavlovska T, Stojchevska A, Amedi H, Andonova J, Nikolovska M, Velickovikj S, Mitrev Z, Kungulovski I, Kungulovski G. Case Report: Omicron BA.2 Subvariant of SARS-CoV-2 Outcompetes BA.1 in Two Co-infection Cases. Front Genet. 2022 Apr 12:13:892682. doi: 10.3389/fgene.2022.892682. eCollection 2022.

S A Kocheva, M Gjorgjievska, K Martinova, Z Antevska-Trajkova, A Jovanovska, D Plaseska-Karanfilska. de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita. Balkan J Med Genet. 2022 Jun 5;24(2):89-93. doi: 10.2478/bjmg-2021-0027. eCollection 2021 Nov.

Trifunovski A, Dimovski A, Dohcev S, Stavridis S, Stankov O, Saidi S, Gjorgjievska M, Popov Z. Detection of TMPRSS2-ERG Fusion Transcript in Biopsy Specimen of Prostate Cancer Patients: A Single Centre Experience. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2020 Jun 1;41(1):5-14. doi: 10.2478/prilozi-2020-0018.

Chakraborty С, Martines C, Porro F, Fortunati I, Bonato A, Dimishkovska M, Piazza S, Yadav S B, Innocenti I, Fazio R, Vaisitti T, Deaglio S, Zamò A, Dimovski A, Laurenti L, Efremov D G. A CRISPR/Cas9-Generated Murine Model Reveals Cooperation between BCR Signaling and CDKN2A/2B and TP53 Disruption in Richter Syndrome. Blood. 2021 Sep 23;138(12):1053-1066. doi: 10.1182/blood.2020008276.

Gucev Z, Tasic V, Plaseska-Karanfilska D, Dimishkovska M, Laban N, Bozinovski Z, Kostovski M, Saveski A, Polenakovic M, Towler OW, Shore EM, Kaplan FS. Severe digital malformations in a rare variant of fibrodysplasia ossificans progressive. Am J Med Genet A. 2019 Jul;179(7):1310-1314.

Sukarova Stefanovska E, Bozhinovski Gj, Trajkova-Antevska Z, Dimishkovska M, Plaseska Karanfilska D. A novel variant His2174Asn in F8 gene in a child with hemophilia A intermedia. Conference: ICGEB Workshop „Next Generation Diagnostics“,March 2018, Skopje.

Dimishkovska M, Mulliqi Kotori V, Gucev Z, Kocheva S, Polenakovic M, Plaseska-Karanfilska D. A novel founder mutation in FANCA gene (c.3446_3449dupCCCT) among Romani patients from the Balkan region. Balkan Medical Journal. Accepted August 2017; DOI: 10.4274/balkanmedj.2017.0618.

Dimishkovska M, Kuzmanovska M, Kocheva S, Martinova K, Karanfilski O, Stojanoski Z, Plaseska-Karanfilska D. First Cases of Hb Agrinio Described in Patients from the Republic of North Macedonia. Hemoglobin. Hemoglobin. 2017 Jul – Nov;41(4-6):308-310.

Kuzmanovska M, Dimishkovska M, MalevaKostovska I, Noveski P, SukarovaStefanovska E, Plaseska-Karanfilska D.CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of North Macedonia.Balkan J Med Genet. 2016 Jul 9;18(2):49-58.

Gucev Z, Tasic V, Plaseska-Karanfilska D, Konstantinova MK, Stamatova A, Dimishkovska M, Laban N, Polenakovic M.LHX4 Gene Alterations: Patient Report and Review of the Literature. PediatrEndocrinol Rev. 2016 Jun;13(4):749-55.

Petkov G, Dimishkovska M, Tsoneva Ivanova V, Yordanov G, Zdraveski A, Plaseska-Karanfilska D. (2015) Hb G-Waimanalo [A1] or α64(E13)Asp→Asn (α1)(HBA1: c.193G>A) Observed in a Bulgarian Family. Hemoglobin, 39(6):430-431.

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