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Open AccessDevelopmental and Injury-induced Changes in DNA Methylation in Regenerative versus Non-regenerative Regions of the Vertebrate Central Nervous System
Because some of its CNS neurons (e.g., retinal ganglion cells after optic nerve crush (ONC)) regenerate axons throughout life, whereas others (e.g., hindbrain neurons after spinal cord injury (SCI)) lose this cap...
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Article
Prevalence of Tongue-Tie in Infants Weighing ≥ 1800 g at Birth
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Hyperinsulinemic Hypoglycemia in Neonates Due to Perinatal Stress: A Case Series
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Open AccessComparative gene expression profiling between optic nerve and spinal cord injury in Xenopus laevis reveals a core set of genes inherent in successful regeneration of vertebrate central nervous system axons
The South African claw-toed frog, Xenopus laevis, is uniquely suited for studying differences between regenerative and non-regenerative responses to CNS injury within the same organism, because some CNS neurons (...
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Article
Open AccessRare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders
Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs)....
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Open AccessInterpretation errors in focused cardiac ultrasound by novice pediatric emergency medicine fellow sonologists
Focused cardiac ultrasound (FOCUS) is a core competency for pediatric emergency medicine (PEM) fellows. The objectives of this study were (1) to evaluate test characteristics of PEM-fellow-performed FOCUS for ...
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Open AccessClinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms w...
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Article
Utility of Hand-Held Echocardiography in Outpatient Pediatric Cardiology Management
Adult patient series have shown hand-held echocardiography (echo) units (HHE) to be accurate for rapid diagnosis and triage. This is the first study to evaluate the ability of HHE to inform decision making in ...
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Open AccessVariant detection and the Autism sequencing project
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Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
When embarking on a microarray-based study of genomic copy number variation, what's helpful for navigating the myriad of available array platforms and data analysis approaches? Pinto et al. evaluate six samples f...
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Functional impact of global rare copy number variation in autism spectrum disorders
The autism spectrum disorders (ASDs) are a group of conditions typically characterized by repetitive behaviour, severely restricted interests and difficulties with social interactions and communication. ASDs a...
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Open AccessA 2cM genome-wide scan of European Holstein cattle affected by classical BSE
Classical bovine spongiform encephalopathy (BSE) is an acquired prion disease that is invariably fatal in cattle and has been implicated as a significant human health risk. Polymorphisms that alter the prion p...
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Article
Open AccessA first generation whole genome RH map of the river buffalo with comparison to domestic cattle
The recently constructed river buffalo whole-genome radiation hybrid panel (BBURH5000) has already been used to generate preliminary radiation hybrid (RH) maps for several chromosomes, and buffalo-bovine comparat...
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Open AccessHigh resolution radiation hybrid maps of bovine chromosomes 19 and 29: comparison with the bovine genome sequence assembly
High resolution radiation hybrid (RH) maps can facilitate genome sequence assembly by correctly ordering genes and genetic markers along chromosomes. The objective of the present study was to generate high res...
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Article
Open AccessA second generation radiation hybrid map to aid the assembly of the bovine genome sequence
Several approaches can be used to determine the order of loci on chromosomes and hence develop maps of the genome. However, all map** approaches are prone to errors either arising from technical deficiencies...
