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Showing 1 to 12 of 30 entries
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Clinical relevance of CHEK2 and NBN mutations in the macedonian population.

Balkan journal of medical genetics : BJMG

Kostovska IM, Jakimovska M, Kubelka-Sabit K, Karadjozov M, Arsovski A, Stojanovska L, Plaseska-Karanfilska D.
PMID: 26929905
Balkan J Med Genet. 2015 Dec 30;18(1):47-54. doi: 10.1515/bjmg-2015-0005. eCollection 2015 Jun.

Clinical importance of the most common CHEK2 (IVS2+1 G>A, 1100delC, I157T and del5395) and NBN (R215W and 657del5) gene mutations for breast cancer development in Macedonian breast cancer patients is unknown. We performed a case-control study including 300 Macedonian...

National Reference Centre for Genomics and Proteomics - MACPROGEN.

Balkan journal of medical genetics : BJMG

Plaseska-Karanfilska D.
PMID: 24052736
Balkan J Med Genet. 2012 Dec;15:9-12. doi: 10.2478/v10034-012-0011-1.

No abstract available.

Rapid and non invasive prenatal diagnosis.

Balkan journal of medical genetics : BJMG

Madjunkova S, Sukarova-Stefanovska E, Kocheva S, Maleva I, Noveski P, Kiprijanovska S, Stankova K, Dimcev P, Madjunkov M, Plaseska-Karanfilska D.
PMID: 24052742
Balkan J Med Genet. 2012 Dec;15:39-43. doi: 10.2478/v10034-012-0017-8.

No abstract available.

Genetics of non syndromic hearing loss in the republic of macedonia.

Balkan journal of medical genetics : BJMG

Sukarova Stefanovska E, Cakar M, Filipce I, Plaseska Karanfilska D.
PMID: 24052745
Balkan J Med Genet. 2012 Dec;15:57-9. doi: 10.2478/v10034-012-0020-0.

Hearing impairment is the most common sensory deficit in humans affecting 1 in 1000 newborns. When present in an infant, deafness may have dramatic effects on language acquisition, seriously compromising the quality of their life. Deafness is influenced by...

Molecular Diagnostics of β-Thalassemia.

Balkan journal of medical genetics : BJMG

Atanasovska B, Bozhinovski G, Chakalova L, Kocheva S, Karanfilski O, Plaseska-Karanfiska D.
PMID: 24052746
Balkan J Med Genet. 2012 Dec;15:61-5. doi: 10.2478/v10034-012-0021-z.

A high-quality hemoglobinopathy diagnosis is based on the results of a number of tests including assays for molecular identification of causative mutations. We describe the current diagnostic strategy for the identification of β-thalassemias and hemoglobin (Hb) variants at the...

Study of the hepatitis C virus in the republic of macedonia.

Balkan journal of medical genetics : BJMG

Kiprijanovska S, Sukarova-Stefanovska E, Noveski P, Chalovska, Polenakovic M, Plaseska-Karanfilska D.
PMID: 24052747
Balkan J Med Genet. 2012 Dec;15:67-9. doi: 10.2478/v10034-012-0022-y.

Hepatitis C virus (HCV) is a major public health problem. It is a leading cause of chronic liver disease and the most common indication for liver transplantation. The therapy for eradication of HCV infection is successful in only 50.0-80.0%...

Genetic variation of the brca1 and brca2 genes in macedonian patients.

Balkan journal of medical genetics : BJMG

Maleva I, Madjunkova S, Bozhinovski G, Smickova E, Kondov G, Spiroski Z, Arsovski A, Plaseska-Karanfilska D.
PMID: 24052750
Balkan J Med Genet. 2012 Dec;15:81-5. doi: 10.2478/v10034-012-0025-8.

The most significant and well characterized genetic risk factors for breast and/or ovarian cancer are germline mutations in the BRCA1 and BRCA2 genes. The BRCA1 and BRCA2 gene mutations strikingly increase breast cancer risk, suggesting that polymorphisms in these...

Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.

Biomedicines

Stiburkova B, Bohatá J, Pavelcová K, Tasic V, Plaseska-Karanfilska D, Cho SK, Potočnaková L, Šaligová J.
PMID: 34829836
Biomedicines. 2021 Nov 03;9(11). doi: 10.3390/biomedicines9111607.

Renal hypouricemia (RHUC) is caused by an inherited defect in the main reabsorption system of uric acid,

Human seminal plasma proteome study: a search for male infertility biomarkers.

Balkan journal of medical genetics : BJMG

Davalieva K, Kiprijanovska S, Noveski P, Plaseski T, Kocevska B, Plaseska-Karanfilska D.
PMID: 24052741
Balkan J Med Genet. 2012 Dec;15:35-8. doi: 10.2478/v10034-012-0016-9.

Seminal plasma is a potential source of biomarkers for many disorders of the male reproductive system including male infertility. Knowledge of the peptide and protein components of seminal fluid is accumulating especially with the appearance of high-throughput MS-based techniques....

Common variants in breast cancer risk loci predispose to distinct tumor subtypes.

Breast cancer research : BCR

Ahearn TU, Zhang H, Michailidou K, Milne RL, Bolla MK, Dennis J, Dunning AM, Lush M, Wang Q, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Augustinsson A, Baten A, Becher H, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Brenner H, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Clarke CL, Collée JM, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dwek M, Eccles DM, Evans DG, Fasching PA, Figueroa J, Floris G, Gago-Dominguez M, Gapstur SM, García-Sáenz JA, Gaudet MM, Giles GG, Goldberg MS, González-Neira A, Alnæs GIG, Grip M, Guénel P, Haiman CA, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Jakimovska M, Jakubowska A, John EM, Jones ME, Jung A, Kaaks R, Kauppila S, Keeman R, Khusnutdinova E, Kitahara CM, Ko YD, Koutros S, Kristensen VN, Krüger U, Kubelka-Sabit K, Kurian AW, Kyriacou K, Lambrechts D, Lee DG, Lindblom A, Linet M, Lissowska J, Llaneza A, Lo WY, MacInnis RJ, Mannermaa A, Manoochehri M, Margolin S, Martinez ME, McLean C, Meindl A, Menon U, Nevanlinna H, Newman WG, Nodora J, Offit K, Olsson H, Orr N, Park-Simon TW, Patel AV, Peto J, Pita G, Plaseska-Karanfilska D, Prentice R, Punie K, Pylkäs K, Radice P, Rennert G, Romero A, Rüdiger T, Saloustros E, Sampson S, Sandler DP, Sawyer EJ, Schmutzler RK, Schoemaker MJ, Schöttker B, Sherman ME, Shu XO, Smichkoska S, Southey MC, Spinelli JJ, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Teras LR, Terry MB, Torres D, Troester MA, Vachon CM, van Deurzen CHM, van Veen EM, Wagner P, Weinberg CR, Wendt C, Wesseling J, Winqvist R, Wolk A, Yang XR, Zheng W, Couch FJ, Simard J, Kraft P, Easton DF, Pharoah PDP, Schmidt MK, García-Closas M, Chatterjee N.
PMID: 34983606
Breast Cancer Res. 2022 Jan 04;24(1):2. doi: 10.1186/s13058-021-01484-x.

BACKGROUND: Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is...

A Homozygous Deletion of the DPY19l2 Gene is a Cause of Globozoospermia in Men from the Republic of Macedonia.

Balkan journal of medical genetics : BJMG

Noveski P, Madjunkova S, Maleva I, Sotiroska V, Petanovski Z, Plaseska-Karanfilska D.
PMID: 24265589
Balkan J Med Genet. 2013 Jun;16(1):73-6. doi: 10.2478/bjmg-2013-0021.

Globozoospermia is a rare but severe teratozoospermia, characterized by ejaculates consisting completely of round-headed spermatozoa that lack an acrosome or, in partial globozoospermia, containing a variable proportion (20.0-90.0%) of acrosomeless spermatozoa. Men that are affected with total globozoospermia are...

Study of Three Single Nucleotide Polymorphisms in the SLC6A14 Gene in Association with Male Infertility.

Balkan journal of medical genetics : BJMG

Noveski P, Mircevska M, Plaseski T, Peterlin B, Plaseska-Karanfilska D.
PMID: 25937799
Balkan J Med Genet. 2015 Apr 10;17(2):61-6. doi: 10.2478/bjmg-2014-0075. eCollection 2014 Dec.

Although several genetic causes of male infertility are known, the condition in around 60.0-75.0% of infertile male patients appears to be idiopathic. In some, genetic causes may be polygenic and require several low-penetrance genes to produce a phenotype outcome....

Showing 1 to 12 of 30 entries