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Browsing by Author Shannon, P
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Showing results 1 to 6 of 6
Title
Author(s)
Issue Date
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, G
Chung, BHY
Shannon, P
Toi, A
Shaffer, L
Chitayat, D
2009
Heterozygous NOTCH1 deletion associated with variable congenital heart defects
Journal:
Clinical Genetics
Roifman, M
Chung, BHY
Reid, DM
Teitelbaum, R
Martin, N
Nield, LE
Thompson, M
Shannon, P
Chitayat, D
2021
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, A
Chung, BHY
Teitelbaum, R
Shannon, P
Chitayat, D
2010
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, BHY
Hinek, A
Shannon, P
Keating, S
Weksberg, R
Shah, V
Blaser, S
Hawkins, C
Chitayat, D
2011
Restrictive dermopathy with massive thrombosis: a previously uncreognized finding
Proceeding/Conference:
Annual Meeting of the American Society of Human Genetics, ASHG 2009
Hinek, A
Chung, BHY
Shannon, P
Teitelbaum, R
Chitayat, D
2009
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, D
Chung, BHY
Shannon, P
Brenner, GJ
Toi, A
Shaffer, L
2009