Results 21 to 30 of about 218,782 (270)
Molecular Cytogenetics, 2019 Background This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant ...
Zhengyou Miao +5 more
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TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment [PDF]
Brain - A Journal of Neurology , Oxford University Press (OUP),
2014, 137 (10), pp.2657-2663, 2020 Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report the identification of the causative gene in spinocerebellar ataxia 21, an autosomal-dominant disorder previously mapped to chromosome 7p21.3-p15.1.
arxiv +1 more source
VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia
Molecular Cytogenetics, 2018 Background VIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific program have ...
Ivan Y. Iourov +3 more
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A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes
BMC Medical Genomics, 2021 Background Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders.
Rosaria Nardello +5 more
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Journal of Medical SciencesTrisomy 13 syndrome is a lethal chromosomal disorder characterized by severe congenital anomalies. We report a case of trisomy 13 syndrome with semilobar holoprosencephaly, cyclopia, proboscis, omphalocele, and an absent nasal bone, prenatally diagnosed ...
Tzu-Rong Liu, Yi-An Kuo, Chi-Kang Lin
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The Relationship between Skewed X-chromosome Inactivation and Neurological Disorders Development
International Clinical Neuroscience Journal, 2016 X-chromosome inactivation (XCI) is a process by which one of the copies of the X chromosome in mammalian female cells is inactivated. The XCI causes a balanced X-linked gene quantity between male and females; moreover, it results mosaic females which ...
Mahdi Taherian +3 more
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Deep Anomaly Generation: An Image Translation Approach of Synthesizing Abnormal Banded Chromosome Images [PDF]
arXiv, 2021 Advances in deep-learning-based pipelines have led to breakthroughs in a variety of microscopy image diagnostics. However, a sufficiently big training data set is usually difficult to obtain due to high annotation costs. In the case of banded chromosome images, the creation of big enough libraries is difficult for multiple pathologies due to the rarity
arxiv
Large scale chromosome folding is stable against local changes in chromatin structure [PDF]
, 2015 Characterizing the link between small-scale chromatin structure and large-scale chromosome folding during interphase is a prerequisite for understanding transcription. Yet, this link remains poorly investigated. Here, we introduce a simple biophysical model where interphase chromosomes are described in terms of the folding of chromatin sequences ...
arxiv +1 more source
Information Measures for Long-Range Correlated Sequences: the Case of the 24 Human Chromosome Sequences [PDF]
Scientific Reports vol. 3, Article number: 2721 (2013), 2013 A new approach to estimate the Shannon entropy of a long-range correlated sequence is proposed. The entropy is written as the sum of two terms corresponding respectively to power-law (\emph{ordered}) and exponentially (\emph{disordered}) distributed blocks (clusters).
arxiv +1 more source
Frontiers in Genetics, 2019 Structural chromosome abnormalities, such as translocations and inversions occasionally occur in all livestock species and are typically associated with reproductive and developmental disorders.
Malorie P. Baily +4 more
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