Zobrazeno 1 - 10
of 402
pro vyhledávání: '"F M, Pope"'
Autor:
C. Angwin, J. Zschocke, T. Kammin, E. Björck, J. Bowen, A. F. Brady, H. Burns, C. Cummings, R. Gardner, N. Ghali, R. Gröbner, J. Harris, M. Higgins, D. Johnson, U. Lepperdinger, D. Milnes, F. M. Pope, R. Sehra, I. Kapferer-Seebacher, G. Sobey, F. S. Van Dijk
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Periodontal Ehlers-Danlos Syndrome (pEDS) is a rare autosomal dominant type of EDS characterised by severe early-onset periodontitis, lack of attached gingiva, pretibial plaques, joint hypermobility and skin hyperextensibility as per th
Externí odkaz:
https://doaj.org/article/af3d3aaede704da8ad59c134d882955b
Publikováno v:
Acta Dermato-Venereologica, Vol 100, Iss 7, p adv00092 (2020)
Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and variable tissue fragility. However, there are limited published data on the dental manifestations of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58633f7459be4a9f95bd06ad9afd1294
https://pubmed.ncbi.nlm.nih.gov/32147746
https://pubmed.ncbi.nlm.nih.gov/32147746
Autor:
Angela F Brady, Elisa De Franco, Fleur S. van Dijk, Sian Ellard, F. M. Pope, Elizabeth Oakley-Hannibal, Neeti Ghali
Publikováno v:
Clinical dysmorphology. 29(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1c5cce99eec689212afc6886c89aa98
https://pubmed.ncbi.nlm.nih.gov/31609726
https://pubmed.ncbi.nlm.nih.gov/31609726
Publikováno v:
Clinical Dysmorphology. 26:50-57
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccf69251bd2aa40ece3e8b164b39bc1c
https://doi.org/10.1097/mcd.0000000000000138
https://doi.org/10.1097/mcd.0000000000000138
Autor:
P. J. Sawle, F. M. Pope
Publikováno v:
Genomics and Clinical Diagnostics ISBN: 9781782628217
Ehlers–Danlos Syndrome (EDS) is a group of connective tissue disorders which are both heterogeneous and heritable. The condition is a result of collagen defects, which include genetic variations and collagen protein processing. Collagen is present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4da36752b9c61ccb229d3bfa9bee79fb
https://doi.org/10.1039/9781782628217-00376
https://doi.org/10.1039/9781782628217-00376
Publikováno v:
Clinical and Experimental Dermatology. 34:e577-e580
We report the case of a 59-year-old woman who presented with a persistent papular and nodular cutaneous eruption and new-onset asthma, with normal renal function but persistent haematuria and proteinuria. Investigations revealed eosinophilia, both an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c17703f350f93dfcac280ee625706fbe
https://doi.org/10.1111/j.1365-2230.2009.03248.x
https://doi.org/10.1111/j.1365-2230.2009.03248.x
Publikováno v:
Clinical Genetics. 32:100-105
Sixty-four patients with pseudoxanthoma elasticum (PXE) were investigated in a nationwide study within South Africa and Zimbabwe. Thirty-nine individuals formed a distinct clinical subgroup. These persons were found exclusively among people of Afrika
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1039f15703dc557f16a59dba50799445
https://doi.org/10.1111/j.1399-0004.1987.tb03333.x
https://doi.org/10.1111/j.1399-0004.1987.tb03333.x
Autor:
F. M. Pope, Elizabeth S. Gray, Keith N. Stewart, N C Smith, T Brown, David J. Lloyd, John Dean
Publikováno v:
Clinical Genetics. 44:287-291
Dean JCS, Gray ES, Stewart KN, Brown T, Lloyd DJ, Smith NC, Pope FM. Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression. Clin Genet 1993: 44: 287–291. © Munksgaard, 1993 Clinical features and histological
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6d227333dad261365b6cb08b83beaba
https://doi.org/10.1111/j.1399-0004.1993.tb03902.x
https://doi.org/10.1111/j.1399-0004.1993.tb03902.x
Autor:
S. M. C. George, Anthony Vandersteen, E. J. Topham, F. M. Pope, E. Nigar, David J. P. Ferguson
Publikováno v:
Clinical and experimental dermatology. 41(7)
Ehlers-Danlos syndrome (EDS) encompasses a genetically and clinically heterogeneous group of connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility and tissue fragility. It is a rare condition, and inheritance is e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2862299247c00d94302f57eb673fa6b
https://pubmed.ncbi.nlm.nih.gov/27663155
https://pubmed.ncbi.nlm.nih.gov/27663155