Making chromosome abnormalities treatable conditions

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Jannine Cody, Daniel Hale

Abstract

Individuals affected by the classic chromosome deletion syndromes which were first identified at the beginning of the genetic age, are now positioned to benefit from genomic advances. This issue highlights five of these conditions (4p-, 5p-, 11q-, 18p-, and 18q-). It focuses on the increased in understanding of the molecular underpinnings and envisions how these can be transformed into effective treatments. While it is scientifically exciting to see the phenotypic manifestations of hemizygosity being increasingly understood at the molecular and cellular level, it is even more amazing to consider that we are now on the road to making chromosome abnormalities treatable conditions.

Associated Clinical Trials

References

May 1, 1989·American Journal of Medical Genetics·B L Shapiro
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Dec 31, 2005·American Journal of Human Genetics·Laurent GouyaJean-Charles Deybach
Sep 12, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jannine D CodyDaniel E Hale
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Jan 6, 2010·The Journal of Experimental Medicine·Laura M DeBuskP Charles Lin
Sep 16, 2010·Genome Research·Andy ItsaraEvan E Eichler
Feb 24, 2011·American Journal of Medical Genetics. Part a·Jannine D Cody, Daniel E Hale
Feb 22, 2012·Science·Daniel G MacArthurChris Tyler-Smith
Jan 19, 2013·Neuroscience Letters·Yang YuanJyothi Arikkath
Nov 1, 2013·Nucleic Acids Research·Jeffrey R MacDonaldStephen W Scherer
Aug 5, 2014·Nature Genetics·Kaitlin E SamochaMark J Daly
Oct 16, 2014·Genome Biology·Jonas Ibn-SalemPeter N Robinson
Mar 26, 2015·Nature Genetics·Patrick SulemKari Stefansson
Mar 26, 2015·Nature·Tychele N TurnerAravinda Chakravarti

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