Publications by authors named "Jerome L Gorski"

15Publications

Two cases with de novo 3q26.31 microdeletion suggest a role for FNDC3B in human craniofacial development.

Am J Med Genet A 2016 12 19;170(12):3276-3281. Epub 2016 Aug 19.

Cytogenetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37892DOI Listing
December 2016

Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Eur J Hum Genet 2013 Oct 30;21(10):1085-92. Epub 2013 Jan 30.

1] Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden [2] Department of Molecular Medicine and Surgery and Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden [3] Department of Hand Surgery, Södersjukhuset, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg2012306
Publisher Site
http://dx.doi.org/10.1038/ejhg.2012.306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778344PMC
October 2013

The Cdc42 guanine nucleotide exchange factor FGD1 regulates osteogenesis in human mesenchymal stem cells.

Am J Pathol 2011 Mar;178(3):969-74

Department of Bioengineering, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajpath.2010.11.051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3070587PMC
March 2011

Unilateral frontosphenoidal craniosynostosis with achondroplasia: a case report.

Cleft Palate Craniofac J 2011 Sep 14;48(5):631-5. Epub 2010 Sep 14.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1597/09-266DOI Listing
September 2011

Effect of Fgd1 on cortactin in Arp2/3 complex-mediated actin assembly.

Biochemistry 2004 Mar;43(9):2422-7

Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://pubs.acs.org/doi/abs/10.1021/bi036173t
Publisher Site
http://dx.doi.org/10.1021/bi036173tDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2366894PMC
March 2004

Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance.

Am J Med Genet A 2003 Dec;123A(3):261-6

Department of Pediatrics and Communicable Diseases, University of Michigan Medical System, Ann Arbor, Michigan 48109, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.20444
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.20444DOI Listing
December 2003

Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape.

Hum Mol Genet 2003 Aug;12(16):1981-93

Department of Pediatrics and Communicable Diseases, University of Michigan School of Medicine, Ann Arbor, MI 48109, USA.

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/12/16/1981.full.pdf
Web Search
http://dx.doi.org/10.1093/hmg/ddg209DOI Listing
August 2003

Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion.

Am J Med Genet A 2003 Jan;116A(3):268-71

Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, Michigan 48109-0688, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.10064DOI Listing
January 2003