Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Catherine, DeVile"'
Autor:
Anna L David, Mats Johansson, Magnus Westgren, Belinda Crowe, Dick Oepkes, Melissa Hill, Lyn S Chitty, Catherine DeVile, Peter Lindgren, Eva Åström, Cecilia Götherström, Nils-Eric Sahlin, Rachel L Sagar, Annabelle Forsmark, Vera Franzen, Göran Hermeren, Caroline Lindemans, Wouter Nijhuis, Mirko Rehberg, Ralph Sakkers, O Semler, Mikael Sundin, Lilian Walther-Jallow, E J T Joanne Verweij
Publikováno v:
BMJ Open, Vol 14, Iss 6 (2024)
Introduction Severe osteogenesis imperfecta (OI) is a debilitating disease with no cure or sufficiently effective treatment. Mesenchymal stem cells (MSCs) have good safety profile, show promising effects and can form bone. The Boost Brittle Bones Bef
Externí odkaz:
https://doaj.org/article/582a3f441343419db9a89157809ffc1c
Autor:
William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist multidi
Externí odkaz:
https://doaj.org/article/08d61047bd944df7b04fb88435d3cd14
Autor:
Deepa S. Rajan, Sukhleen Kour, Tyler R. Fortuna, Margot A. Cousin, Sarah S. Barnett, Zhiyv Niu, Dusica Babovic-Vuksanovic, Eric W. Klee, Brian Kirmse, Micheil Innes, Siri Lynne Rydning, Kaja K. Selmer, Magnus Dehli Vigeland, Anne Kjersti Erichsen, Andrea H. Nemeth, Francisca Millan, Catherine DeVile, Katherine Fawcett, Adrien Legendre, David Sims, Ricardo Parolin Schnekenberg, Lydie Burglen, Sandra Mercier, Somayeh Bakhtiari, Rosario Francisco-Velilla, Azman Embarc-Buh, Encarnacion Martinez-Salas, Kristen Wigby, Jerica Lenberg, Jennifer R. Friedman, Michael C. Kruer, Udai Bhan Pandey
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure a diagnostic od
Externí odkaz:
https://doaj.org/article/5d4040678c7b47c1897c45d67b96d069
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-4 (2018)
Abstract Background Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do not form properly. Typically, mutations in COL1A1 and COL1A2 genes lead to the defect
Externí odkaz:
https://doaj.org/article/6ae0d17a829840aea783f582d4450250
Publikováno v:
Oral presentations.
Autor:
Belinda Crowe, Richard Bowman, Ulrike Löbel, Alistair Calder, Alexander Gibson, Jeremy Allgrove, Catherine DeVile
Publikováno v:
Digital posters.
Autor:
Patrick Thornley, Meena Balasubramanian, Belinda Crowe, Joanna Brock, Nick Bishop, Christine P Burren, Duncan Baker, Sarah F. Smithson, Jeremy Allgrove, Paul Arundel, Vrinda Saraff, Catherine DeVile, Nick Shaw
Publikováno v:
Archives of Disease in Childhood. 107:486-490
Background/ObjectivesIn England, children (0–18 years) with severe, complex and atypical osteogenesis imperfecta (OI) are managed by four centres (Birmingham, Bristol, London, Sheffield) in a ‘Highly Specialised Service’ (HSS OI); affected chil
Publikováno v:
PLoS ONE, Vol 13, Iss 7, p e0199756 (2018)
BACKGROUND:Mitochondrial and neurogenetic diseases can present diagnostic challenges. We investigated if near infrared spectroscopy with the vascular occlusion test is able to differentiate between children with mitochondrial disease and children wit
Externí odkaz:
https://doaj.org/article/c9526d59d55847018e32bc848351f9e6
Autor:
Athina, Ververi, Sara, Zagaglia, Lara, Menzies, Julia, Baptista, Richard, Caswell, Stephanie, Baulac, Sian, Ellard, Sally, Lynch, Genomics England Research, Consortium, Thomas S, Jacques, Maninder Singh, Chawla, Martin, Heier, Mari Ann, Kulseth, Inger-Lise, Mero, Anne Katrine, Våtevik, Ichraf, Kraoua, Hanene Ben, Rhouma, Thouraya Ben, Younes, Zouhour, Miladi, Ilhem Ben Youssef, Turki, Wendy D, Jones, Emma, Clement, Christin, Eltze, Kshitij, Mankad, Ashirwad, Merve, Jennifer, Parker, Bethan, Hoskins, Ronit, Pressler, Sniya, Sudhakar, Catherine, DeVile, Tessa, Homfray, Marios, Kaliakatsos, Prab Prabhakar, Ponnudas, Robert, Robinson, Sara Margrete Bøen, Keim, Imen, Habibi, Alexandre, Reymond, Sanjay M, Sisodiya, Jane A, Hurst
Publikováno v:
Human molecular genetics.
DEPDC5 (DEP Domain-Containing Protein 5) encodes an inhibitory component of the mammalian target of rapamycin (mTOR) pathway and is commonly implicated in sporadic and familial focal epilepsies, both non-lesional and in association with focal cortica
Autor:
Manju A. Kurian, Dora Steel, Francesco Muntoni, Sniya Sudhakar, Richard H Scott, Lucinda Carr, Kshitij Mankad, Alison Male, Tarishi Nemani, Marios Kaliakatsos, Athina Ververi, Spas Getov, Mary M. Reilly, Pinki Munot, Catherine DeVile
Publikováno v:
Journal of the Peripheral Nervous System. 25:117-124
KIF1A-related disorders (KRD) were first described in 2011 and the phenotypic spectrum has subsequently expanded to encompass a range of central and peripheral nervous system involvement. Here we present a case series demonstrating the range of clini