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Clinical and Experimental Dermatology|May 20, 2024
Skin fragility and wound management in Ehlers-Danlos syndromes: a report by the International Consortium on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders Skin Working GroupChloe Angwin, Brent J Doolan, Ingrid Hausser, et al.American Journal of Medical Genetics. Part A|December 7, 2013
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutationsAnthony M Vandersteen, Allan M Lund, David J P Ferguson, et al.Genes|October 2, 2019
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two PatientsChloe Angwin, Angela F Brady, Marina Colombi, et al.Journal of Medical Genetics|May 30, 2020
Arterial complications in classical Ehlers-Danlos syndrome: a case seriesChloe Angwin, Angela F Brady, F Michael Pope, et al.American Journal of Medical Genetics. Part A|April 8, 2015
Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 geneNatasha S Stembridge, Anthony M Vandersteen, Neeti Ghali, et al.American Journal of Medical Genetics. Part A|February 25, 2020
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndromeSandy Ayoub, Neeti Ghali, Chloe Angwin, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 25, 2016
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndromeRuwan A Weerakkody, Jana Vandrovcova, Christina Kanonidou, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2020
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragilityClaire Green, Neeti Ghali, Rhoda Akilapa, et al.American Journal of Human Genetics|May 31, 2003
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13Nazneen Rahman, Melanie Dunstan, M Dawn Teare, et al.American Journal of Human Genetics|September 6, 2002
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21Nazneen Rahman, Melanie Dunstan, M Dawn Teare, et al.Pageof 3