Výsledky vyhledávání - "E. Sukarova-Stefanovska"

Sex-biased patterns shaped the genetic history of Roma

Autor: Horolma Pamjav, Halyna Makukh, Mihai G. Netea, Carla García-Fernández, Begoña Dobon, Francesc Calafell, Neus Font-Porterias, Vaidutis Kučinskas, David Comas, E. Sukarova-Stefanovska, Jaume Bertranpetit

Publikováno v: Scientific Reports
Scientific Reports, 10, 1
Digital.CSIC. Repositorio Institucional del CSIC
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Scientific Reports, 10
Scientific reports, Berlin : Nature Research, 2020, vol. 10, iss. 1, art. no. 14464, p. [1-10]
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)

The Roma population is a European ethnic minority characterized by recent and multiple dispersals and founder effects. After their origin in South Asia around 1,500 years ago, they migrated West. In Europe, they diverged into ethnolinguistically dist

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8ab1e9b792c2f84f767a78a765ff2b8
https://pubmed.ncbi.nlm.nih.gov/33077820

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Prenatal Diagnosis of Cryptic Translocation t(5p;17q) with Fluorescent In Situ Hybridization

Autor: T. Hristova-Dimkovska, M. Kocova, E. Sukarova-Angelovska, G. Ilieva, E. Sukarova-Stefanovska, S. Kostadinova-Kunovska

Publikováno v: Journal of Fetal Medicine. :133-137

Reciprocal chromosomal rearrangements, de novo or inherited, often raise a concern about the foetal health and outcome of the affected pregnancies. The size and origin of the translocated chromosomes could be variable. Cryptic translocations often re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cf3df5f6419fbfb3bd263b106b99f194
https://doi.org/10.1007/s40556-018-0161-7

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Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy

Autor: S. Fustik, T Jakovska, M Terzic, Milena Jakimovska, Dijana Plaseska-Karanfilska, E Sukarova-Stefanovska

Publikováno v: Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 22, Iss 1, Pp 35-40 (2019)

The most prevalent "rare" disease worldwide, cystic fibrosis (CF), is an autosomal recessive multisystem disease, caused by mutations in the CFTR gene. The knowledge of CFTR mutations present in certain population is important for designing a simple,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::179c1e4dd24e3cc22b87a27ee9fefa58
https://pubmed.ncbi.nlm.nih.gov/31523618

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CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia

Autor: Dijana Plaseska-Karanfilska, I. Maleva Kostovska, E Sukarova Stefanovska, P Noveski, Maja Kuzmanovska, Marija Dimishkovska

Publikováno v: Balkan Journal of Medical Genetics, Vol 18, Iss 2, Pp 49-58 (2015)
Balkan Journal of Medical Genetics : BJMG

Cytochrome P450 2D6 (CYP2D6) is an enzyme of great importance for the metabolism of clinically used drugs. More than 100 variants of the CYP2D6 gene have been identified so far. The aim of this study was to investigate the allele distribution of CYP2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c937371c686b6402da63215c0a25a42c
https://doi.org/10.1515/bjmg-2015-0086

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Prevalence of hepatitis C virus genotypes in risk groups in the Republic of Macedonia: A 5 years survey

Autor: Sanja Kiprijanovska, Dijana Plaseska-Karanfilska, E Sukarova-Stefanovska, Katarina Davalieva, P Noveski

Publikováno v: Journal of Medical Virology. 85:2072-2078

The prevalence of hepatitis C virus (HCV) genotypes depends on geographical location. HCV genotyping is important for epidemiological investigations and treatment management. The aim of this study was to determine the HCV genotype prevalence in the m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a29bed9fcd2cb0adeb7bbcfc56481d07
https://doi.org/10.1002/jmv.23706

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Rapid and non Invasive Prenatal Diagnosis

Autor: P Dimcev, Svetlana Kocheva, I Maleva, E Sukarova-Stefanovska, Svetlana Madjunkova, Dijana Plaseska-Karanfilska, Sanja Kiprijanovska, M Madjunkov, K Stankova, P Noveski

Publikováno v: Balkan Journal of Medical Genetics, Vol 15, Iss Supplement, Pp 39-43 (2012)
Balkan Journal of Medical Genetics : BJMG

Prenatal screening and diagnosis are routinely offered at antenatal care clinic visits, and are im-portant in decision making about the continuation of pregnancies affected by genetic conditions for which there are no cures, and prevention through th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa1722ba04eb31c05cbc08315f666759
https://doi.org/10.2478/v10034-012-0017-8

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Molecular Characterization of Hemophilia a in Southeast Bulgaria

Autor: G.H. Petkov, P Tchakarova, Georgi D. Efremov, E Sukarova Stefanovska

Publikováno v: Balkan Journal of Medical Genetics, Vol 11, Iss 1, Pp 55-60 (2008)

Molecular Characterization of Hemophilia a in Southeast BulgariaThe results of molecular characterization of Hemophilia A in 50 patients from Southeast Bulgaria are presented. Southern blot analysis for the detection of inversions in intron 22, and p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63011c50eaccab45b6672b6a0df68ff1
https://doaj.org/article/2db0b206ca6b4228a7ce1c71e314aac3

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