Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jessica M Bowen"'
Autor:
Jessica M. Bowen, Monica Hernandez, Diana S. Johnson, Claire Green, Tammy Kammin, Duncan Baker, Sylvia Keigwin, Seiko Makino, Naomi Taylor, Oliver Watson, Nigel M. Wheeldon, Glenda J. Sobey
Publikováno v:
European Journal of Human Genetics.
The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by pathogenic variants in the COL3A1 gene. Associated tissue
Autor:
Ulrike Lepperdinger, Chloe Angwin, Di Milnes, Glenda Sobey, Neeti Ghali, Diana Johnson, Angela F. Brady, Tammy Kammin, Jessica M. Bowen, Rebekka Gröbner, Pernilla Lundberg, James Scott, Johannes Zschocke, Fleur S. van Dijk, Ines Kapferer‐Seebacher
Aim\ud \ud Periodontal Ehlers-Danlos syndrome (pEDS) is a monogenic type of Ehlers-Danlos syndrome characterized by periodontal destruction at a young age. The present study aimed to document the oral phenotype of pEDS based on prospective clinical i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f54b6dabfcd00ff06151e7cb51c27207
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-198510
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-198510
Autor:
Sophie Cadden, Melody G Redman, Duncan Baker, Bart E. Wagner, Diana Johnson, Glenda Sobey, Meena Balasubramanian, Jessica M Bowen
Publikováno v:
Ultrastructural pathology. 45(6)
Vascular Ehlers-Danlos Syndrome (vEDS) and Osteogenesis Imperfecta (OI) are two forms of connective tissue disorders. Previously, transmission electron microscopy of skin biopsies was routinely performed on all patients who were clinically suspected
Autor:
Paul Arundel, Muhammad Javaid, Meena Balasubramanian, Jessica M Bowen, Luiz Cesar Peres, Nick Bishop, Glenda Sobey, Bart E. Wagner, J Bexon
Publikováno v:
Ultrastructural Pathology. 40:71-76
Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. Over 90% of patients with OI have a mutation in COL1A1/COL1A2, which shows an autosoma
Autor:
Brad T. Tinkle, Tomoki Kosho, Clair A. Francomano, Eyal Reinstein, Neeti Ghali, Jessica M Bowen, Johannes Zschocke, Marianne Rohrbach, James H. Black, Roberto Mendoza-Londono, Michael Frank, Marco Castori, Serwet Demirdas, Angela F. Brady, Helen Cohen, Diana Johnson, Nicol C. Voermans, Birgit Juul-Kristensen, F. Michael Pope, Mark E. Lavallee, Sylvie Fournel-Gigleux, John W. Belmont, Nigel Wheeldon, Anne De Paepe, Rodney Grahame, Fransiska Malfait, Cecilia Giunta, Peter H. Byers, Leema Robert, Ines Kapferer-Seebacher, Nigel Burrows, Anthony Vandersteen, Caroline van Mourik, Melanie Pepin, Lara Bloom, Glenda Sobey, Howard P. Levy, Tim Van Damme, Britta Berglund, Lynn Sanders, Marina Colombi, Alan Hakim, Hanadi Kazkaz, Xavier Jeunemaitre, Julie De Backer
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (1), pp.8-26. ⟨10.1002/ajmg.c.31552⟩
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 175, 1, pp. 8-26
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Wiley, 2017, 175 (1), pp.8-26. ⟨10.1002/ajmg.c.31552⟩
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 175, 8-26
Malfait, F, Francomano, C, Byers, P H, Belmont, J, Berglund, B, Black, J, Bloom, L, Bowen, J M, Brady, A F, Burrows, N P, Castori, M, Cohen, H, Colombi, M, Demirdas, S, De Backer, J, De Paepe, A, Fournel-Gigleux, S, Frank, M, Ghali, N, Giunta, C, Grahame, R, Hakim, A, Jeunemaitre, X, Johnson, D, Juul-Kristensen, B, Kapferer-Seebacher, I, Kazkaz, H, Kosho, T, Lavallee, M E, Levy, H, Mendoza-Londono, R, Pepin, M, Pope, F M, Reinstein, E, Robert, L, Rohrbach, M, Sanders, L, Sobey, G J, Van Damme, T, Vandersteen, A, van Mourik, C, Voermans, N, Wheeldon, N, Zschocke, J & Tinkle, B 2017, ' The 2017 international classification of the Ehlers-Danlos syndromes ', American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, vol. 175, no. 1, pp. 8-26 . https://doi.org/10.1002/ajmg.c.31552
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (1), pp.8-26. ⟨10.1002/ajmg.c.31552⟩
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 175, 1, pp. 8-26
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Wiley, 2017, 175 (1), pp.8-26. ⟨10.1002/ajmg.c.31552⟩
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 175, 8-26
Malfait, F, Francomano, C, Byers, P H, Belmont, J, Berglund, B, Black, J, Bloom, L, Bowen, J M, Brady, A F, Burrows, N P, Castori, M, Cohen, H, Colombi, M, Demirdas, S, De Backer, J, De Paepe, A, Fournel-Gigleux, S, Frank, M, Ghali, N, Giunta, C, Grahame, R, Hakim, A, Jeunemaitre, X, Johnson, D, Juul-Kristensen, B, Kapferer-Seebacher, I, Kazkaz, H, Kosho, T, Lavallee, M E, Levy, H, Mendoza-Londono, R, Pepin, M, Pope, F M, Reinstein, E, Robert, L, Rohrbach, M, Sanders, L, Sobey, G J, Van Damme, T, Vandersteen, A, van Mourik, C, Voermans, N, Wheeldon, N, Zschocke, J & Tinkle, B 2017, ' The 2017 international classification of the Ehlers-Danlos syndromes ', American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, vol. 175, no. 1, pp. 8-26 . https://doi.org/10.1002/ajmg.c.31552
Item does not contain fulltext The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6f0b002b28d94b1fa69a6762a4a7db7
https://www.zora.uzh.ch/id/eprint/145775/
https://www.zora.uzh.ch/id/eprint/145775/
Autor:
Jessica M Bowen, Fransiska Malfait, Glenda Sobey, Nigel Burrows, Mark E. Lavallee, Clair A. Francomano, Marina Colombi
Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideratio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7d0f6e58728346c03c2f80a87a74d6f
http://hdl.handle.net/11379/489002
http://hdl.handle.net/11379/489002
Autor:
D H Viskochil, Jonathan A. Bernstein, Diana Johnson, Sébastien Lévesque, Meena Balasubramanian, Amy R. U. L. Calhoun, Dimple Sureka, Jessica M Bowen, Helen Lord, Guillaume Sillon, Aaron M. Wenger, Tracy Lester, David Chitayat, Harendra Guturu, Gill Bejerano, Ddd Study, Fanny Thuriot
Publikováno v:
Journal of medical genetics. 54(3)
Background In 1993, Chitayat et al. , reported a newborn with hyperphalangism, facial anomalies, and bronchomalacia. We identified three additional families with similar findings. Features include bilateral accessory phalanx resulting in shortened in