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.

Latest Publication

2009

Inverted duplications deletions: underdiagnosed rearrangements??

Zuffardi O, et al.

CLINICAL GENETICS

Abstract Molecular techniques led to the discovery that several chromosome rearrangements interpreted as terminal duplications were in fact inverted duplications…

2009

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

Mary Glancy, et al.

European Journal of Human Genetics

Abstract Duplications of distal 8p with and without significant clinical phenotypes have been reported and are often associated with an…

2009

Fluorescence In SITU Hybridization and Single Nucleotide Polymorphism of A New Case with INV DUP DEP(8p)

A.O. Caglayan, et al.

Genetic Counseling.

Abstract Fluorescence In Situ Hybridization and single nucleotide polymorphism of a new case with inv dup del(8p): Inverted duplication deletion…

2009

Chromosome 8p as a potential hub for developmentalneuropsychiatric disorders: implications forschizophrenia, autism and cancer

R Tabare ́s-Seisdedos and JLR Rubenstein

Molecular Psychiatry

Autism and schizophrenia are complex neuropsy-chiatric syndromes affecting between 0.3 and 0.6% of children and approximately 1% of the adult world population

2004

Molecular Characterization of inv dup del(8p): Analysis of Five Cases

Osamu Shimokawa, et al.

American Journal of Medical Genetics

Abstract We analyzed five patients with inverted duplication deletion of 8p [inv dup del(8p)] using fluorescence in situ hybridization (FISH)…

2003

Mosaicism 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

J R Vermeesch, et al.

Journal of Medical Genetics.

Summary Case report (n = 1) of 2yo female with invdupdel 8p. Both aberrant chromosomes were generated independently. Mosaics may…

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.