Deciphering the Invdupdel (8p) Genotype-Phenotype Correlation: Our Opinion
Deciphering the Invdupdel (8p) Genotype-Phenotype Correlation: Our Opinion Brain Sciences, July 2020 Link to Online Article
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The scientific or research articles below are from publications or journals that are relevant for Chromosome 8p disorders. If you have any articles to share with us that is relevant to Project 8p’s mission, please contact us with the article.
Tips For Reading Scientific Papers
Reading a scientific paper is a completely different process than reading about science in a blog or news article. A single paper may take you a long time to read at first. Be patient with yourself. You may need to read the sections out of order, jot down notes, read it multiple times, skim or even skip certain parts, and pause to look up terms in our glossary. As you gain experience, you will learn what approach works for you.
Most research papers will be divided into the following sections:
Abstract: Briefly summarizes the research including why it is important, what was done, and what was found. Introduction: contains all the background information needed to understand the broader context of the research. Methods: clearly outlines how the research was carried out. Results: describes what was found in detail, sometimes using tables and figures (graphs, illustrations, or diagrams). Discussion: makes connections to other research and interprets the meaning of the results. Conclusion: reinforces major takeaways and states their significance beyond the paper.
Not all papers are freely available; you may only be able to see the abstract for some. If you want to read the full text of a restricted paper, Open Access Button is a tool that takes you to a free copy of the research article or helps you ask the author to share the article with you. You can also email the author directly; many are receptive to these requests.
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum Link to…
Read MoreClinical and Genomic Characterization of 8p Cytogenomic Disorders
Clinical and Genomic Characterization of 8p Cytogenomic Disorders a Project 8p Funded Study Link to Downloadable PDF
Read MoreNeurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact Commission on…
Read MoreHarnessing Rare Variants in Neuropsychiatric and Neurodevelopment Disorders
Annals of the New York Academy of Sciences Special Issue: Keystone Symposia Reports Harnessing Rare Variants in Neuropsychiatric and Neurodevelopment…
Read MoreThe Structure, Function and Evolution of a Complete Human Chromosome 8
The Structure, Function and Evolution of a Complete Human Chromosome 8 Nature, April 9, 2021 Project 8p Foundation is proud…
Read More8p 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 MoreInverted tandem duplication generates a duplication deficiency of chromosome 8p
Abstract An adult female with severe mental retardation and dysmorphic features is described. A de novo chromosomal aberration involving 8p…
Read MoreD8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)
Abstract Ten patients with inverted duplication of 8p (inv dup 8p) were studied with cytogenetic, biochemical and molecular techniques. The…
Read MorePartial trisomy and monosorny 8p due to inversion duplication
Abstract Fluorescent in situ hybridization with probes specific for a chromosomal subregion and chromosome-specific libraries (chromosome painting) are important new…
Read MoreProtelomeric Sequences Are Deleted in Cases of Short Arm Inverted Duplication of Chromosome 8
Abstract We present a patient with a de novo inverted duplication of the short arm of chromosome 8. Molecular analysis…
Read MoreChromosome Disorder Outreach Results
Summary Informational summary of chromosome 8 (8p and 8q) disorders — deletions and trisomy. Overview of clinical characteristics. Summary of…
Read MoreClinical and Cytogenetic Findings in Seven Cases of Inverted Duplication of 8p With Evidence of a Telomeric Deletion Using Fluorescence in Situ Hybridization
Abstract We report on the clinical and cytogenetic findings in 7 cases of inverted duplication of region 8p11.2p23. The phenotype…
Read MoreInverted Duplication/Deletion of Chromosome 8p: Mild Clinical Phenotype
Summary Case report (n = 1) of 18 month old female with invdupdel 8p. Mild clinical phenotype. READ FULL TEXT…
Read MoreInverted duplication/deletion of the short arm of chromosome 8 in two patients with tetralogy of Fallot
Abstract The relationship between congenital heart defects (CHD) and chromosomal aberration has been well discussed. Payne et al. suggested that…
Read More8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?
Summary Case reports (n = 8) on 8p23 duplication. Differences in phenotypic expression suggest that the observed pathology may be…
Read MoreMosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event
Summary Case report (n = 1) of 2yo female with invdupdel 8p. Both aberrant chromosomes were generated independently. Mosaics may…
Read MoreMolecular Characterization of inv dup del(8p): Analysis of Five Cases
Abstract We analyzed five patients with inverted duplication deletion of 8p [inv dup del(8p)] using fluorescence in situ hybridization (FISH)…
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 MoreTransmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties
Abstract Duplications of distal 8p with and without significant clinical phenotypes have been reported and are often associated with an…
Read MoreFluorescence In SITU Hybridization and Single Nucleotide Polymorphism of A New Case with INV DUP DEP(8p)
Abstract Fluorescence In Situ Hybridization and single nucleotide polymorphism of a new case with inv dup del(8p): Inverted duplication deletion…
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 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 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 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…
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