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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
Analysis 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…
Read MoreInverted duplications deletions: underdiagnosed rearrangements??
Abstract Molecular techniques led to the discovery that several chromosome rearrangements interpreted as terminal duplications were in fact inverted duplications…
Read MoreNews Articles
Weatherford Democrat – Weatherford family hopes to travel to NY for rare disorder conference
Article By Madelyn Edwards news@weatherforddemocrat.com When doctors diagnosed Shelby Prewett with chromosome 8 disorder at age 4, the information they…
Read MoreFox 5 NY – Brave girl inspires research on rare chromosomal disorder | The Big Idea
Article By Teresa Priolo, FOX 5 NY Karina Shah, 6, has a song in her heart and a beat in…
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New Zealand Herald – Kathryn Hazeldine: The life of a 5-year-old with chromosome 8p condition unable to yet walk or talk
Article by: Leah Tebbutt It’s the long curly hair you notice first as it falls around Kathryn Hazeldine’s face. It’s…
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Bravo TV – Denise Richards Breaks Down While Explaining the Rare Disorder That Affects Her Daughter, Eloise
Article By Tamara Palmer Denise Richards adopted her 8-year-old daughter, Eloise, in 2011, joining daughters Sam and Lola (who she had…
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Fox 5 NY – Family of girl with rare chromosomal disorder creates nonprofit to help research condition
NEW YORK (FOX 5 NY) – Karina Shah, 6, has spent her life living with a Chromosome 8p abnormality, a rare…
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Pharmafile – Living with a Rare Chromosome Disorder
Rebecca Pender’s daughter Hannah lives with the ultra-rare condition Inv Dup Del 8p, a genetic arrangement that affects just 80…
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