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Browsing by Author Hinek, A
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Showing results 1 to 9 of 9
Title
Author(s)
Issue Date
Hand abnormalities in Loeys-Dietz syndrome: expanding the clinical spectrum
Proceeding/Conference:
Annual Meeting of the American Society of Human Genetics, ASHG 2012
Chung, B
Hinek, A
Bradley, T
Grossse-Wortmann, L
Blaser, S
Chitayat, D
2012
Hand abnormalities in Loeys-Dietz syndrome: Expanding the clinical spectrum
Proceeding/Conference:
33rd Annual David W. Smith Workshop
Chung, BHY
Hinek, A
Bradley, T
Grossse-Wortmann, L
Blaser, S
Chitayat, D
2012
Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome-expanding the clinical spectrum
Journal:
American Journal of Medical Genetics. Part A
Chung, BHY
Bradley, T
Grosse-Wortmann, L
Blaser, S
Dirks, P
Hinek, A
Chitayat, D
2014
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 metalloproteinase activity related to reduced TIMP1: a new syndrome?
Proceeding/Conference:
Annual Meeting of the American Society of Human Genetics, ASHG 2010
Shah, V
Chung, BHY
Hinek, A
Chitayat, D
2010
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?
Journal:
American Journal of Medical Genetics. Part A
Chung, BHY
Hinek, A
Keating, S
Weksberg, R
Shah, V
Blaser, S
Hawkins, C
Chitayat, D
2012
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
Phenotypic heterogeneity in 2 sisters with SMAD3-associated aneurysms-osteoarthritis syndrome (AOS) - insights into the pathogenesis from phenotypic assessment and immunohistochemical analysis using patient-derived dermal fibroblasts
Proceeding/Conference:
34th Annual David W. Smith Workshop
Chung, BHY
Luk, HM
Chan, SHS
Shen, WY
Hinek, A
2013
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