Organisational and economic aspects of the archives digitalisation of the State Film Fund of the Russian Federation by M. I. Kosinova, A. A. Gasilina

“…The study used the following methods: historical and genetic analysis, descriptive analysis of literature and media materials, qualitative content analysis of documents, reports and other materials, comparative analysis, secondary analysis of public opinion surveys and statistical data. …”
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Morphological evidence for the presence of the Danube Crested Newt, Triturus dobrogicus (Kiritzescu, 1903), in Slovenia by David Stanković, Teo Delić

“…Only with additional genetic analysis could we answer if this is a pure population or whether hybridisation with T. carnifex is present. …”
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Echocardiography indicators in patients with atherosclerosis of peripheral arteries of the lower extremities dependent on T(–786)C polymorphism of the endothelial nitric oxide synt... by V.I. Tseluyko, O.D. Yarova

“…Doppler ultrasound examination of the lower extremities and carotid arteries (CA), transthoracic echocardiography (EchoCG), ECG Holter monitoring and genetic analysis using polymerase chain reaction were performed. …”
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Oligodontia and Facial Phenotype Associated with a Rare Syndrome by Fatima Ezzahra Zidane, Mustapha El Alloussi

“…This case could be the first reported case described in Morocco, but a thorough examination with genetic analysis must be carried out. Conclusion. Oligodontia could clinically be isolated or associated with ectodermal dysplasia, a large group of rare diseases, and other syndromes.…”
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A Pediatric Case of Systemic Lupus Erythematosus Developed 10 Years after Cord Blood Transplantation for Juvenile Myelomonocytic Leukemia by Masayuki Nagasawa, Yuki Aoki

“…Bone marrow examination showed complete remission without monosomy 7. Genetic analysis of peripheral blood revealed mixed chimera with recipient cells consisting of <5% of T cells, 50–60% of B cells, 60–75% of NK cells, 70–80% of macrophages, and 50–60% of granulocytes. …”
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Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review by Anastasios Anyfantakis, Dimitrios Anyfantakis, Irene Vourliotaki

“…After thyroidectomy, although on relatively high doses of levothyroxine, both of them presented with the laboratory findings of RTH. Genetic analysis revealed RTH.…”
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A Novel Mutation in the Adult-Onset Alexander’s Disease GFAP Gene by Dhillon B. Zaver, Nathan T. Douthit

“…Despite its infrequency in adults and the difficulty in diagnosis, the prevalence of AxD has been increasing due to ease of genetic analysis and identification of key clinical and radiological findings. …”
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Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome by Kyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, Eleni P. Kotanidou, Ioannis Papoulidis, Assimina Galli-Tsinopoulou, Maria Fotoulaki

“…This case not only expands the clinical characteristics of 3-methylglutaconic aciduria type V (MGCA5) but also highlights the power of genetic analysis for detecting a diagnosis when the metabolic screen is negative.…”
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GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report by Joonhwan Lee, Byungju Ryu, Yunhee Kim, Eunyoung Lee

“…His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.…”
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Flavonoid-Deficient Mutants in Grass Pea (Lathyrus sativus L.): Genetic Control, Linkage Relationships, and Mapping with Aconitase and S-Nitrosoglutathione Reductase Isozyme Loci by Dibyendu Talukdar

“…Both the mutants contained total leaf flavonoid content only 20% of their mother varieties. Genetic analysis revealed monogenic recessive inheritance of the trait, controlled by two different nonallelic loci. …”
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Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning by D. E. Ivanoshchuk, A. B. Kolker, O. V. Timoshchenko, S. E. Semaev, E. V. Shakhtshneider

“…On the basis of a group of patients with familial hypercholesterolemia (enrolled according to the Dutch Lipid Clinic Network Criteria and including cases confirmed by molecular genetic analysis), decision trees were constructed, which made it possible to identify cases in the study population that require additional molecular genetic analysis. …”
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The latest therapeutic reports on short-term and long-term prophylaxis in the treatment of hereditary angioedema by Maciej Kozłowski, Karolina Żurawska, Iwona Poziomkowska-Gęsicka

“…The diagnosis of HAE is based on a thorough medical history, analysis of the family history, specialized laboratory tests and genetic analysis. Various medications are used in the treatment and prevention of HAE, both for short- and long-term prevention. …”
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Genetic Architecture of Transcription and Chromatin Regulation by Kwoneel Kim, Hyoeun Bang, Kibaick Lee, Jung Kyoon Choi

“…DNA microarray and next-generation sequencing provide data that can be used for the genetic analysis of multiple quantitative traits such as gene expression levels, transcription factor binding profiles, and epigenetic signatures. …”
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TLE1 Positive Clear Cell Sarcoma of the Kidney: A Case Report and Review of the Literature by Rana Naous

“…The tumor however was double positive for CD99 and TLE1 which made it difficult to discriminate it from the myxoid variant of SS based on histopathological examination and immunophenotype alone, and genetic analysis for SYT gene rearrangement was required to reach a definitive diagnosis. …”
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Family case of cardiac achalasia by Yu. V. Yevsyutina, A. S. Trukhmanov, V. T. Ivashkin

“…Presented clinical case illustrates genetic theory of cardiac achalasia development in 81 year-old mother and 58 year-old daughter. Genetic analysis which is broadly applied for patients with achalasia, has allowed to come around to disease etiology, anyhow additional investigations in this area are necessary.…”
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Mitochondrial Stress Signalling: HTRA2 and Parkinson's Disease by Enrico Desideri, L. Miguel Martins

“…Mitochondria are cellular energy generators whose activity requires a continuous supply of oxygen. Recent genetic analysis has suggested that defects in mitochondrial quality control may be key factors in the development of Parkinson’s disease (PD). …”
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Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome by Kuanshu Li, Liu Yang, Ying Liu, Ding Lin

“…Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the products of PCR were sequenced and compared with FOXC1 and PITX2 genes, from which the mutations were found. …”
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Isolation of Intact Mitochondria From Drosophila melanogaster and Assessment of Mitochondrial Respiratory Capacity Using Seahorse Analyzer by Christopher Groen, Anthony Windebank

“…The isolated mitochondria may be used for respiration measurements, which reflect their health, and stored for protein or genetic analysis. Mitochondrial populations from multiple strains or treatment groups can be easily compared simultaneously. …”
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Allgrove syndrome in endocrinology: Difficulties of diagnosis and treatment features. Case report by Uliana V. Buyvalenko, Anna R. Levshina, Anna K. Eremkina, Kseniya A. Komshilova, Nadezhda M. Platonova

“…Neurological dysfunction from the involvement of central or autonomic nervous systems is also common with Allgrove syndrome observed during the adolescent period. Genetic analysis and detection of the AAAS gene mutation is the main step in the diagnosis of the syndrome. …”
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Atypical Parkinsonism Revealing a Late Onset, Rigid and Akinetic Form of Huntington's Disease by A. Ciammola, J. Sassone, B. Poletti, N. Mencacci, R. Benti, V. Silani

“…We report a 54-year-old male who presented with Parkinsonism as the initial symptom of the disease. Genetic analysis revealed expansion of 40 CAG repeats, and brain MRI showed both severe caudate nuclei and cortical atrophy. …”
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