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The research articles below are from medical journals that have mentioned Chromosome 8. If you have any articles to share with us that is relevant to Project 8p’s mission, please contact us with the article. If it adheres to these guidelines, we will add it below to our growing research page.
Published Articles
The structure, function and evolution of a complete human chromosome 8.
Nature, April 9, 2021
Project 8p Foundation is proud to be working with the Eichler Lab and Glennis Logsden on our patient cell lines to investigate the underpinnings of this disorder.
Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion
Brain Sciences, July 2020
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8p Inverted Duplication & Deletion – rarechromo.org
Abstract Inverted duplication and deletion of 8p, known as inv dup del 8p, is a rare genetic condition that is…
Read MoreAnalysis of Invdupdel(8p) Rearrangement: Clinical, Cytogenetic and Molecular Characterization
Abstract Inverted duplication 8p associated with deletion of the short arms of chromosome 8 (invdupdel[8p])is a relatively uncommon complex chromosomal…
Read MoreInverted Duplication Deletion Of 8p: Characterization By Standard Cytogenetic and SNP Array Analyses
Abstract Inverted 8p duplication deletions are recurrent chromosomal rearrangements that most often arise through non-allelic homologous recombination (NAHR) during maternal…
Read MoreGenotype–Phenotype Association Studies of Chromosome 8p Inverted Duplication Deletion Syndrome
Abstract Individuals diagnosed with chromosome 8p inverted duplication deletion (invdupdel(8p)) manifest a wide range of clinical features and cognitive impairment.…
Read MoreGenomic profile of copy number variants on the short arm of human chromosome 8
Abstract We evaluated 966 consecutive pediatric patients with various developmental disorders by high-resolution microarray-based comparative genomic hybridization and found 10…
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