A comprehensive screen for TWIST (ital) mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7-21.1
Article Abstract:
Identification of a new microdeletion syndrome of chromosome band 7-21.1 by use of a comprehensive screen for TWIST (ital) mutations in patients with craniosynostosis is discussed. A significant fraction of the cases of Saethre-Chotzen syndrome are the result of the microdeletion, and it seems that haploinsufficiency of genes close to TWIST (ital) contributes to developmental problems.
author: Johnson, David, Kearney, Lyndal, Wilkie, Andrew O.M., Twigg, Stephen R.F., Wall, Steven A., Njolstad, Pal R., Horsley, Sharon W., Moloney, Dominique M., Oldridge, Michael, Walsh, Sinead, Barrow, Margaret, Kunz, Jurgen, Ashworth, Geraldine J.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
United Kingdom, Germany, Norway, Statistical Data Included, Usage, Diagnosis, Physiological aspects, Chromosome mapping, Genetic disorders, Mental retardation, Chromosome deletion, Craniofacial dysostosis
Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesian
Article Abstract:
The origins of the autosomal gene pool of Polynesians are analyzed on a genome-wide scale and the results are compared with Chinese and Papua New Guinea individuals. Dual origin of Polynesians with a high East Asian and considerable Melanesian component reflects sex-biased admixture in Polynesian history.
author: Nurnberg, Peter, Kayser, Manfred, Lao, Oscar, Saar, Kathrin, Brauer, Silke, Xingyu Wang, Trent, Ronald J., Stoneking, Mark
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Natural history, Population genetics, Polynesians, Gene pool
RAB23 mutations in Carpenter syndrome imply an unexpected role for Hedgehog signaling in cranial-suture development and obesity
Article Abstract:
RAB23 mutations in Carpenter syndrome were studied. Homozygosity mapping was used and linkages to chromosome 6p12.1-q12 and five different mutations were identified in RAB23.
author: Wilkie, Andrew O.M., Mathijssen, Irene M.J., Morton, Jenny E.V., Sweeney, Elizabeth, Wall, Steven A., Nurnberg, Peter, Jenkins, Dagan, Seelow, Dominik, Jehee, Fernanda S., Marsh, Jeffrey L., Passos-Bueno, Maria Rita, Perlyn, Chad A., Alonso, Luis G., Bueno, Daniela F., Donnai, Dian, Josifiova, Dragana, Orstavik, Karen Helene
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Cellular signal transduction, Pleiotropy, Craniofacial abnormalities, Report
subjects list: Research, Genetic aspects
This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.