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141
Identifying the Risky SNP of Osteoporosis with ID3-PEP Decision Tree Algorithm
Published 2017-01-01“…In the past 20 years, much progress has been made on the genetic analysis of osteoporosis. A number of genes and SNPs associated with osteoporosis have been found through GWAS method. …”
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142
Integrated and streamlined microfluidic device for molecular diagnosis of pathogen through direct PCR amplification
Published 2025-01-01“…Results: In this study, we developed a microfluidic genetic analysis device that leverages direct PCR technology to simplify the entire PCR process, focusing on enhancing the usability and accessibility of the device for point-of-care diagnostics. …”
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143
Microsatellite and Mitochondrial COI Provide Novel Insights Into the Population Genetic Structure of White Prunicola Scale (Pseudaulacaspis prunicola) in China
Published 2025-01-01“…In this study, a comprehensive population genetic analysis of P. prunicola in China was conducted, focusing on genetic diversity, genetic structure, relationships among geographical populations, and population dynamics. …”
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144
Phylogenetic Analysis and Extracellular Enzyme Profiles of Yeast Strains Isolated from Raspberry Fruits
Published 2021-03-01“…Yeast strains were isolated and then identified by using the analysis of ITS1-5.8S-ITS2 rDNA gene sequences. The phylo-genetic analysis of all yeast strains was carried out by using the MEGA–X phylogenetic analysis tool. …”
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145
LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient
Published 2018-01-01“…The truncating nature of both nonsense mutations made the clinical presentation severe and the outcome fatal. Genetic analysis in such cases of muscle dystrophy is of utmost impact, because it makes the correct diagnosis with at least some specific options for treatment, makes the prognosis depending on the severity of mutation discovered, determines reproductive risk, and offers prophylaxis in the family by means of prenatal or preimplantation diagnostics.…”
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146
Necroptotic Cell Death Signaling and Execution Pathway: Lessons from Knockout Mice
Published 2015-01-01“…Here we outline the recent discoveries into how the necrotic cell death execution pathway is engaged in many physiological and pathological outcome based on genetic analysis of knockout mice.…”
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147
Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations
Published 2016-01-01“…Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. …”
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148
“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case
Published 2020-01-01“…The proband and his mother were clinically diagnosed with AI, and genetic analysis revealed an already described variant in DLX3. …”
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149
Analysis of Amelogenin and Sex-determining Region on Y Chromosome Genes Obtained from Pulpal Tissue for Sex Estimation by using Multiplex Polymerase Chain Reaction
Published 2023-12-01“…In this study, a total of 70 teeth, comprising 35 males and 35 females, were utilized, and all samples underwent genetic analysis to determine sex following exposure to different forensic scenarios. …”
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150
Perinatal Management for a Pregnant Woman with an MYH9 Disorder
Published 2016-01-01“…We provided genetic counseling, as required, which included apprising the woman of the inheritance pattern, the importance of a genetic analysis, and the potential delivery risks for the patient and her offspring. …”
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151
Diagnostic Pitfalls in Newborns and Babies with Blisters and Erosions
Published 2009-01-01“…In addition, we provide an overview of the rational use and the limitations of laboratory procedures such as microbial testing, routine light microscopy, immunofluorescence antigen mapping, transmission electron microscopy, and molecular genetic analysis.…”
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152
The Relationship between Cadherin Polymorphisms and the Risk of Delayed Encephalopathy after Acute Carbon Monoxide Poisoning in the Chinese Han Population
Published 2022-01-01“…Using different genetic analysis models, we evaluated the relationship between the cadherin gene polymorphisms and risk of DEACMP. …”
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153
Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome
Published 2021-01-01“…Magnetic resonance imaging scan revealed a partially empty sella turcica. Genetic analysis showed no mutations and no copy number variants of the TBX19 and NFKB2 genes. …”
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154
Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report
Published 2025-01-01“…Here we describe a classically OS case with definitive diagnosis of OS based on clinical features and a genetic assay. Genetic analysis revealed heterozygous variants in the TRPV3 gene using whole-exome sequencing of case-parents’ trios. …”
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155
Study on genetics of yield component traits under salt stress in two rice crosses raised using honeycomb selection design
Published 2024-12-01“…For the agronomically important traits, precise phenotyping of crop plants is essential under stress where soil heterogeneity is aggravated for genetic analysis and developing improved crop varieties. …”
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156
Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia
Published 2022-01-01“…To elaborate on the clinical findings, biochemical data, molecular genetic analysis, and short-term prognosis of 13 GSD1a patients in Malaysia. …”
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157
Giant Prolactinoma of Young Onset: A Clue to Diagnosis of MEN-1 Syndrome
Published 2018-01-01“…During follow-up, both developed pancreatic neuroendocrine tumours. Genetic analysis revealed that one was heterozygous for a nonsense mutation and other for missense mutation in MEN1 gene. …”
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158
Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene
Published 2013-01-01“…We investigated the cause of thrombosis and found that the anticoagulant activity of protein C was decreased. Genetic analysis showed the presence of a c.125C>A (Arg42Ser) substitution in the protein C gene (PROC) of the proband, which generates an Arg42Ser mutation that replaces the scissile bond Arg42-Ala43 normally cleaved by a furin-like processing protease. …”
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159
Aggressive Differentiated Thyroid Cancer due to EML4e13-ALKe20 Fusion: A Case Presentation and Review of the Literature
Published 2021-01-01“…The rapid progression of clinical signs and symptoms and the local extension beyond the thyroid and lymph nodes with the persistence of high-volume local disease after thyroidectomy highlight the aggressive nature of this mutation and the importance of performing genetic analysis to guide future treatments and determine prognosis. …”
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160
Genotyping of hexaploid wheat varieties from different Russian regions
Published 2016-03-01“…We used molecular-genetic and molecular-cytology approaches to characterize the genomes of 20 varieties of wheat created in different regions of Russia. A molecular-genetic analysis was performed using 29 SSR-markers covering the entire genome, and 41 ISBP-markers localized on chromosome 5B. …”
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