Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Anne DePaepe"'
Autor:
Jiapiao Zhuang, Anne Depaepe, Darwin J. Prockop, Jarmo Körkkö, Gerard Tromp, Leena Ala-Kokko, Petteri Paassilta, Helena Kuivaniemi
Publikováno v:
Human Mutation. 9:148-156
Previous observations on mutations causing osteogenesis imperfecta (OI) suggested that unrelated patients had private mutations. Here preliminary studies on two patients with type I OI indicated that some mutations in the COL1A1 gene for type I proco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::65e239c27ac9ac63d754d12c372888cb
https://doi.org/10.1002/(sici)1098-1004(1997)9:2<148::aid-humu7>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1997)9:2<148::aid-humu7>3.0.co
Autor:
Anne DePaepe, Delfien Syx, Ludovic Martin, Fransiska Malfait, Philippe Beurrier, Valérie Allamand
Publikováno v:
Neuromuscular Disorders. 24:89
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d263430f0bf3daa116e49903643c244f
https://doi.org/10.1016/j.nmd.2013.10.008
https://doi.org/10.1016/j.nmd.2013.10.008
Autor:
Jarmo Körkkö, Helena Kuivaniemi, Petteri Paassilta, Jiapiao Zhuang, Gerard Tromp, Anne DePaepe, Darwin J. Prockop, Leena Ala‐Kokko
Publikováno v:
Human mutation. 9(2)
Previous observations on mutations causing osteogenesis imperfecta (OI) suggested that unrelated patients had private mutations. Here preliminary studies on two patients with type I OI indicated that some mutations in the COL1A1 gene for type I proco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8f62eed10fbebb958e0eb49ac7ad80f
https://pubmed.ncbi.nlm.nih.gov/9067755
https://pubmed.ncbi.nlm.nih.gov/9067755
Autor:
Anne Depaepe, Kiyoshi Imaizumi, Marie Neëlle Van Thienen, Jenny Han, Christopher E. Price, Mei Wang, Jason Cisler, Maurice Godfrey
Publikováno v:
Human molecular genetics. 4(4)
The Marfan syndrome (MFS) is an autosomal dominant heritable disorder of connective tissue. Variable and pleiotropic clinical features are observed in the skeletal, ocular, and cardiovascular systems. The most severe end of the phenotypic spectrum of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e12826badedfe178ce2bbddbeb0bee1f
https://pubmed.ncbi.nlm.nih.gov/7633409
https://pubmed.ncbi.nlm.nih.gov/7633409
Autor:
Angela Christiano, Jason Cisler, Maurice Godfrey, Sylvia De Bie, Jouni Uitto, Anne DePaepe, Marie Louise Geerts
Publikováno v:
Journal of the American Academy of Dermatology. 32(4)
Background: Pseudoxanthoma elasticum (PXE) is a rare heritable connective tissue disorder manifested by skin, ocular, and cardiovascular anomalies. The basic defect is unknown; however, the microscopic findings are indicative of defects in elastic fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::401672383611e7c185755c05cc04d710
https://pubmed.ncbi.nlm.nih.gov/7896947
https://pubmed.ncbi.nlm.nih.gov/7896947