Browsing by Author Shannon, P

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Showing results 1 to 6 of 6
TitleAuthor(s)Issue DateViews
 
The first reported case of the DRAGON gene deletion in human. A case with a de-novo interstitial deletion of chromosome 5q15-21.1
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009
Brenner, GChung, BHYShannon, PToi, AShaffer, LChitayat, D
2009
44
 
Heterozygous NOTCH1 deletion associated with variable congenital heart defects
Journal:Clinical Genetics
Roifman, MChung, BHYReid, DMTeitelbaum, RMartin, NNield, LEThompson, MShannon, PChitayat, D
2021
15
 
In-vitro treatment with pravastatin and dexamethasone normalizes abnormal deposition of elastic fibers in dermal fibroblasts derived from patients with Restrictive Dermopathy - Possible therapeutic implications
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010
Hinek, AChung, BHYTeitelbaum, RShannon, PChitayat, D
2010
97
 
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinse activity related to reduced T1MP1: a new syndrome
Proceeding/Conference:32nd Annual David W. Smith Workshop
Chung, BHYHinek, AShannon, PKeating, SWeksberg, RShah, VBlaser, SHawkins, CChitayat, D
2011
126
 
Restrictive dermopathy with massive thrombosis: a previously uncreognized finding
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009
Hinek, AChung, BHYShannon, PTeitelbaum, RChitayat, D
2009
33
 
The first reported case of the dragon gene deletion in human. A case with a de-novo interstitial deletion of chromosome 5Q15-21.1
Proceeding/Conference:30th Annual David W. Smith Workshop
Chitayat, DChung, BHYShannon, PBrenner, GJToi, AShaffer, L
2009
Showing results 1 to 6 of 6