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Published in 2019 at "Movement Disorders"
DOI: 10.1002/mds.27558
Abstract: Genetic variability in LRRK2 has been unequivocally established as a major risk factor for familial and sporadic forms of PD in ethnically diverse populations.
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Keywords:
understanding role;
role genetic;
genetic variability;
variability lrrk2 ... See more keywords
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Published in 2019 at "Pathology"
DOI: 10.1016/j.pathol.2018.10.014
Abstract: Dyslipidaemias encompass about two dozen relatively rare monogenic disorders and syndromes for which the genetic basis has largely been defined. In addition, the complex polygenic basis of disturbed lipids and lipoproteins has been characterised in…
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Keywords:
genetic testing;
diagnosis;
role genetic;
pathology ... See more keywords
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2
Published in 2018 at "European Journal of Preventive Cardiology"
DOI: 10.1177/2047487318756433
Abstract: Although much has been learned about disease of the thoracic aorta, most diagnosis of thoracic aortic aneurysm (TAA) is still incidental. The importance of the genetic aspects in thoracic aortic disease is overwhelming, and today…
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Keywords:
genetic testing;
acute aortic;
role genetic;
testing prevention ... See more keywords
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1
Published in 2019 at "North Carolina Medical Journal"
DOI: 10.18043/ncm.80.1.39
Abstract: The role of the genetic counselor in newborn screening is a unique one that involves a partnership with physicians and families. Most genetic counselors who do work related to newborn screening work either for a…
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Keywords:
role genetic;
newborn screening;
genetic counselor;
counselor newborn ... See more keywords
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Published in 2017 at "International Journal of Endocrinology"
DOI: 10.22141/2224-0721.13.1.2017.96763
Abstract: У роботі наведено аналіз досліджень, присвячених генетиці цукрового діабету 2-го типу. Проаналізовані літературні джерела останніх років. Висвітлена роль однонуклеотидних поліморфізмів у генах, що асоціюються з розвитком цукрового діабету. Також обговорюється роль чинників довкілля в розвитку…
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Keywords:
mellitus role;
role genetic;
genetic factors;
diabetes mellitus ... See more keywords
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Published in 2022 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2022.946206
Abstract: Noised-induced hearing loss (NIHL) is an acquired, progressive neurological damage caused by exposure to intense noise in various environments including industrial, military and entertaining settings. The prevalence of NIHL is much higher than other occupational…
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Keywords:
genetic variants;
role genetic;
hearing loss;
susceptibility ... See more keywords
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Published in 2022 at "Frontiers in Physiology"
DOI: 10.3389/fphys.2022.769924
Abstract: Gestational Diabetes Mellitus (GDM) is a highly prevalent maternal pathology characterized by maternal glucose intolerance during pregnancy that is, associated with severe complications for both mother and offspring. Several risk factors have been related to…
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Keywords:
role genetic;
factors associated;
gestational diabetes;
genetic factors ... See more keywords
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2
Published in 2022 at "Biomedicines"
DOI: 10.3390/biomedicines10030549
Abstract: The aim of this study was to identify single nucleotide variants in genes associated with susceptibility to or severe outcomes of COVID-19. A total of 319 genomic DNA samples from patients with varying degrees of…
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Keywords:
role genetic;
covid;
genetic factors;
severe course ... See more keywords
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Published in 2023 at "Life"
DOI: 10.3390/life13040996
Abstract: There is an increasing understanding of the molecular and cytogenetic background of various tumors that helps us better conceptualize the pathogenesis of specific diseases. Additionally, in many cases, these molecular and cytogenetic alterations have diagnostic,…
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Keywords:
mitochondrial driven;
role genetic;
breast gynecological;
mutations mitochondrial ... See more keywords
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Published in 2022 at "Pharmaceutics"
DOI: 10.3390/pharmaceutics14112468
Abstract: Pharmacogenetics plays a key role in personalized cancer treatment. Currently, the clinically available pharmacogenetic markers for metastatic colorectal cancer (mCRC) are in genes related to drug metabolism, such as DPYD for fluoropyrimidines and UGT1A1 for…
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Keywords:
pharmacogenetics role;
genetic variants;
role;
review ... See more keywords