Results 1 to 9 of 9
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TypeTitleAuthor(s)YearViews
Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome-expanding the clinical spectrum
Journal:
American Journal of Medical Genetics. Part A
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/journal/117928899/grouphome/home.html
Chung, BHY; Bradley, T; Grosse-Wortmann, L; Blaser, S; Dirks, P; Hinek, A; Chitayat, D201436
 
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
Proceedings/Conference:
34th Annual David W Smith Workshop 2013
Chung, BHY; Luk, HM; Chan, SHS; Shen, WY; Hinek, A201363
 
Hand abnormalities in Loeys-Dietz syndrome: Expanding the clinical spectrum
Proceedings/Conference:
33rd David W. Smith Workshop on Malformations and Morphogenesis, USA, 8-12 August 2012
Chung, BHY; Hinek, A; Bradley, T; Grossse-Wortmann, L; Blaser, S; Chitayat, D201263
 
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
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/journal/117928899/grouphome/home.html
Chung, BHY; Hinek, A; Keating, S; Weksberg, R; Shah, V; Blaser, S; Hawkins, C; Chitayat, D2012135
 
Hand abnormalities in Loeys-Dietz syndrome: expanding the clinical spectrum
Proceedings/Conference:
62nd Annual Meeting of the American Society of Human Genetics, ASHG 2012
Publisher:
American Society of Human Genetics.
Chung, B; Hinek, A; Bradley, T; Grossse-Wortmann, L; Blaser, S; Chitayat, D201276
 
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinse activity related to reduced T1MP1: a new syndrome
Proceedings/Conference:
32nd David W. Smith Workshop 2011
Chung, BHY; Hinek, A; Shannon, P; Keating, S; Weksberg, R; Shah, V; Blaser, S; Hawkins, C; Chitayat, D2011128
 
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
Proceedings/Conference:
Annual Meeting of the American Society of Human Genetics, ASHG 2010
Hinek, A; Chung, BHY; Teitelbaum, R; Shannon, P; Chitayat, D2010163
 
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a new syndrome?
Proceedings/Conference:
Annual Meeting of the American Society of Human Genetics, ASHG 2010
Shah, V; Chung, BHY; Hinek, A; Chitayat, D2010160
 
Restrictive dermopathy with massive thrombosis: a previously uncreognized finding
Proceedings/Conference:
ASHG Annual Meeting 2009
Hinek, A; Chung, BHY; Shannon, P; Teitelbaum, R; Chitayat, D200924
 
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