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Susceptibility to Aneuploidy in Young Mothers of Down Syndrome Children
Published 2009-01-01“…We recently observed an increased frequency of binucleated micronucleated lymphocytes in women who had a Down syndrome (DS) child before 35 years of age and the fluorescence in situ hybridization analysis revealed that micronuclei were mainly originating from chromosomal malsegregation events, including chromosome 21 malsegregation. …”
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306
Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature
Published 2014-01-01“…Further investigation on fibroblast cells using conventional chromosome and FISH analysis revealed two additional mosaic cell lines; one is containing a ring chromosome 21 and the other a double ring chromosome 21. …”
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Mouse ZGRF1 helicase facilitates DNA repair and maintains efficient fertility
Published 2025-01-01Get full text
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309
SMC translocation is unaffected by an excess of nucleoid associated proteins in vivo
Published 2025-01-01“…Abstract Genome organization is important for DNA replication, gene expression, and chromosome segregation. In bacteria, two large families of proteins, nucleoid-associated proteins (NAPs) and SMC complexes, play important roles in organizing the genome. …”
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310
Cytogenetic features of intergeneric amphydiploids and genome-substituted forms of wheat
Published 2024-11-01“…Chromosome analysis has not confirmed the presence of the N genome from Ae. uniaristata Vis. in the genome-substituted hybrid Avrotata. …”
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311
Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome
Published 2015-01-01“…Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. …”
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312
A first study on sperm sexing in water buffalo through magnetic nanoparticles
Published 2023-11-01“…Therefore, the Y chromosome-bearing spermatozoa remained closer to MNPs. …”
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313
A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate
Published 2014-01-01“…Chromosome microarray analysis evidenced a 49 Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. …”
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314
SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease
Published 2019-01-01“…The anomalies of X chromosome are classified as numerical or structural. …”
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315
From DNA Radiation Damage to Cell Death: Theoretical Approaches
Published 2010-01-01“…Furthermore, a mechanistic model developed at the University of Pavia and based on the relationship between cell inactivation and chromosome aberrations was presented, together with recent results; the good agreement between model predictions and literature experimental data on different radiation types (photons, protons, alpha particles, and Carbon ions) supported the idea that asymmetric chromosome aberrations like dicentrics and rings play a fundamental role for cell death. …”
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Aneuploidy Mechanisms in Human Colorectal Preneoplastic Lesions and Barrett’s Esophagus. Is There a Role for K-Ras and p53 Mutations?
Published 1997-01-01“…These data and data from experiments using in vitro and mouse models, suggest that chromosome instability, tetraploidization, and asymmetrical chromosome segregation during cell division are the result of deregulated cell cycle genes with multiple functions that normally exert active checks on the cell cycle processes including apoptosis and chromosome stability.…”
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317
Genotyping of hexaploid wheat varieties from different Russian regions
Published 2016-03-01“…Comparative analysis of individual dendrograms constructed using 1–2 markers per chromosome, and with the involvement of a larger number of 5B-chromosome markers allowed us to identify varieties with rearrangements of this chromosome and to assess genetic diversity. …”
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318
No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome
Published 2021-01-01“…SNP microarray revealed nonmosaic gain of the short arm of chromosome 9. A nonmosaic isodicentric chromosome 9 was identified in the peripheral blood but this rearranged chromosome was detected in only 8.3% of the skin fibroblasts. …”
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319
Genetic Cholestasis: Lessons from the Molecular Physiology of Bile Formation
Published 2000-01-01“…PFIC types 1 and 2 occur due to mutations in loci at chromosome 18 and chromosome 2, respectively. The pathophysiology of PFIC type 1 is not well understood. …”
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Finding the Correct Partner: The Meiotic Courtship
Published 2012-01-01“…Homologous chromosomes are usually separated at the entrance of meiosis; how they become paired is one of the outstanding mysteries of the meiotic process. …”
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