Publication

Scientific Publication

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.

Method

Clearly outlines how the research was carried out.

Result

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.

Latest Publication

2002

Inverted 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…

2002

8p23 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…

2000

Inverted 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…

1995

Clinical 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…

1994

Partial 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…

1994

Protelomeric 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…

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