Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Ivo J. H. M. de Vos"'
Autor:
Ivo J. H. M. de Vos, Arnette Shi Wei Wong, Jason Taslim, Sheena Li Ming Ong, Nicole C. Syder, Julian L. Goggi, Thomas J. Carney, Maurice A. M. van Steensel
Publikováno v:
Biology Open, Vol 9, Iss 12 (2020)
Frank-Ter Haar syndrome (FTHS, MIM #249420) is a rare skeletal dysplasia within the defective collagen remodelling spectrum (DECORS), which is characterised by craniofacial abnormalities, skeletal malformations and fibrotic soft tissues changes inclu
Externí odkaz:
https://doaj.org/article/fbf0145d5183405281f6adafd7b26f1b
Autor:
Marlon R. Schneider, Xinhong Lim, Ewan A. Langan, Maurice A.M. van Steensel, Klaus Göbel, Ralf Paus, R. Clayton, David M. Ansell, Mauro Picardo, Ivo J. H. M. de Vos
Publikováno v:
Biological Reviews. 95:592-624
The nervous system communicates with peripheral tissues through nerve fibres and the systemic release of hypothalamic and pituitary neurohormones. Communication between the nervous system and the largest human organ, skin, has traditionally received
Publikováno v:
Imaging Technologies and Transdermal Delivery in Skin Disorders
Autor:
Julian L. Goggi, Thomas J. Carney, Nicole C. Syder, Jason Taslim, Ivo J. H. M. de Vos, Sheena Li Ming Ong, Arnette Shi Wei Wong, Maurice A.M. van Steensel
Publikováno v:
Biology Open
article-version (VoR) Version of Record
Biology Open, Vol 9, Iss 12 (2020)
Open Biology, 9(12):054270. COMPANY OF BIOLOGISTS LTD
article-version (VoR) Version of Record
Biology Open, Vol 9, Iss 12 (2020)
Open Biology, 9(12):054270. COMPANY OF BIOLOGISTS LTD
Frank-Ter Haar syndrome (FTHS, MIM #249420) is a rare skeletal dysplasia within the defective collagen remodelling spectrum (DECORS), which is characterised by craniofacial abnormalities, skeletal malformations and fibrotic soft tissues changes inclu
Publikováno v:
Scientific Reports
Scientific Reports, 10(1):11801. Nature Publishing Group
Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Scientific Reports, 10(1):11801. Nature Publishing Group
Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Microfibril-associated glycoprotein 4 (MFAP4) is an extracellular matrix protein belonging to the fibrinogen-related protein superfamily. MFAP4 is produced by vascular smooth muscle cells and is highly enriched in the blood vessels of the heart and l
Publikováno v:
American Journal of Medical Genetics Part A. (2):338-351
Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these gen
Autor:
Alexander P.A. Stegmann, Carroll A.B. Webers, Ivo J. H. M. de Vos, Constance T. R. M. Stumpel
Publikováno v:
Ophthalmic Genetics. 38(2):101-107
Anterior segment dysgeneses are developmental anomalies of the anterior eye segment that can occur as isolated defects or as part of various syndromes. A subgroup is caused by abnormal embryonic neural crest development. The Axenfeld-Rieger syndrome
Autor:
Tim J. M. Welting, Barry J. Coull, Arnette Shi Wei Wong, Ivo J. H. M. de Vos, Maurice A.M. van Steensel
Frank-Ter Haar syndrome (FTHS), Winchester syndrome (WS), and multicentric osteolysis, nodulosis, and arthropathy (MONA) are ultra-rare multisystem disorders characterized by craniofacial malformations, reduced bone density, skeletal and cardiac anom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dffd859c717abc2ad581ce074274a60
https://doi.org/10.1002/ajmg.a.61264
https://doi.org/10.1002/ajmg.a.61264
Autor:
Sheena Li Ming Ong, Alexander P.A. Stegmann, David J. Amor, Evelyn Yaqiong Tao, Julian L. Goggi, Thomas J. Carney, Norris R. Dunn, Thomas S. Scerri, Barry J. Coull, Arnette Shi Wei Wong, Paul J. Lockhart, Melanie Bahlo, Dominic Grussu, Gabrielle R. Wilson, Maurice A.M. van Steensel, Ivo J. H. M. de Vos, Renske Janssen, Michel van Geel, Chernis Guai Mun Low
Publikováno v:
Human Molecular Genetics, 27(16), 2775-2788. Oxford University Press
Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joint destruction and osteolysis. To date, only one missense mutation inMMP14, encoding the membrane-bound matrix metallopr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd43255ad9f8f58fef9c35dce662d171
https://doi.org/10.1101/281485
https://doi.org/10.1101/281485
Autor:
Ivo J H M, de Vos, Evelyn Yaqiong, Tao, Sheena Li Ming, Ong, Julian L, Goggi, Thomas, Scerri, Gabrielle R, Wilson, Chernis Guai Mun, Low, Arnette Shi Wei, Wong, Dominic, Grussu, Alexander P A, Stegmann, Michel, van Geel, Renske, Janssen, David J, Amor, Melanie, Bahlo, Norris R, Dunn, Thomas J, Carney, Paul J, Lockhart, Barry J, Coull, Maurice A M, van Steensel
Publikováno v:
Human Molecular Genetics
Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joint destruction and osteolysis. To date, only one missense mutation in MMP14, encoding the membrane-bound matrix metallop