Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies [PDF]
Frontiers in Genetics, 2022 External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital nonprogressive external ophthalmoplegia, ptosis, scoliosis, torticollis, vertebral, and rib anomalies, caused by homozygous mutations in the myogenic factor ...
Qianqian Li +8 more
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Chromosome numbers for the Italian flora: 12 [PDF]
Italian Botanist, 2021 In this contribution, new chromosome data obtained on material collected in Italy are presented. It includes the first counts for Hieracium glanduliferum s.str. and H.
Giovanni Astuti +7 more
doaj +9 more sources
Genome-wide association analysis and admixture mapping in a Puerto Rican cohort supports an Alzheimer disease risk locus on chromosome 12 [PDF]
Frontiers in Aging NeuroscienceIntroductionHispanic/Latino populations are underrepresented in Alzheimer Disease (AD) genetic studies. Puerto Ricans (PR), a three-way admixed (European, African, and Amerindian) population is the second-largest Hispanic group in the continental US.
Bilcag Akgun +35 more
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Improved reconstruction and comparative analysis of chromosome 12 to rectify Mis-assemblies in Gossypium arboreum [PDF]
BMC Genomics, 2020 Background Genome sequencing technologies have been improved at an exponential pace but precise chromosome-scale genome assembly still remains a great challenge. The draft genome of cultivated G.
Javaria Ashraf +10 more
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Prenatal diagnosis and clinical evaluation of fetuses with structural X chromosome abnormalities: a ten-year single-center retrospective study [PDF]
BMC Medical GenomicsBackground Structural X chromosome abnormalities are rare conditions and pose great challenges in prenatal genetic counseling. The present study aimed to identify and investigate the pregnancy outcome of fetuses with X chromosome structural abnormalities
Lixian Zhang +4 more
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The Iraqi Journal of Medical Sciences, 2021 Background: Chronic lymphocytic leukemia (CLL) is a malignancy of mature B cells. The genetic factors have been found to play a role in the pathogenesis of the disease.
Hiba H. Hashim, Subeh S. Abdulateef
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Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
Molecular Genetics & Genomic Medicine, 2020 Background Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features.
Lynnea Myers +11 more
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Somatic chromosome counts and karyomorphological analysis of 12 Allium (Amaryllidaceae) taxa
Journal of Asia-Pacific Biodiversity, 2023 The genus Allium is a well-known model system for cytological research, and its cytological characteristics are considered important for species identification.
Yeseul Kim +6 more
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Biogeography of the Genus Linaria (Plantaginaceae) Based on Chromosome Number Data [PDF]
Journal of Cell and Molecular Research, 2015 The biogeography of genus Linaria was revealed by the available chromosome counts from all over the world. Chromosome numbers of 92 taxa of the genus Linaria are included in an on-line karyological database.
Massoud Ranjbar, Samineh Nouri
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Czech Journal of Animal Science, 2019 Intramuscular fat (IMF) and fatty acid composition are characteristics that are used as important indicators of evaluating high quality pork and contribute to the economic benefits of the pig farming industry. In this study, quantitative trait loci (QTL)
Sangwook Kim +3 more
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