Research Papers


Research Papers

Gene Review is an international publication which is seen as a resource for clinicians and medical professionals as it provides clinical data and information for inherited conditions in a standardised journal-style format, covering diagnosis and management. Each chapter in the Gene Review is written by one or more experts on the specific condition or disease and goes through a rigorous editing process before being published online.

The first Gene Review for Alstrom Syndrome was published in 2003, but has been updated in 2019.

The Gene Reviews can be found on the U.S National Library of Medicine:
Paisey RB, Steeds R, Barrett T, et al. Alström Syndrome.
2003 Feb 7 [Updated 2019 Jun 13]. In: Adam MP, Ardinger HH, Pagon
RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of
Washington, Seattle; 1993-2019.

Bookshelf URL: https://www.ncbi.nlm.nih.gov/books/
http://www.genereviews.org/ © 1993-2019 University of Washington

Paisey RB, Steeds R, Barrett T, et al. Alström Syndrome. 2003 Feb 7 [Updated 2019 Jun 13]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.

You can read the Alstrom Syndrome Gene Review which is available from: https://www.ncbi.nlm.nih.gov/books/NBK1267/

The new clinical guidelines – published September 2020 can be found by clicking on the link below:

Consensus clinical management guidelines for Alström syndrome

Overview and case review of patients with Alstrom

How genetic sequencing can transform the way that more people are diagnosed with rare conditions, such as Alstrom.

Research papers which concentrate on endocrinology

Research related to cardiology

The most recent study in 2024, highlights the need for regular monitoring of patients. This study describes the cardiovascular phenotype of the largest group of adults with AS to-date:

https://doi.org/10.1016/j.ijcard.2024.132212

 

Zhang SY, Xuan C, Wang Y, Zhang SQ, Li H, He GW, Tian QW
Schwendt M, Kroll J, Fleck T, Stiller B
Research relating to sensorineural hearing loss

 

Media Reviewed: August 2020
Next Review: August 2022