Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Bart E, Wagner"'
Autor:
Charlène Lhuissier, Bart E. Wagner, Amy Vincent, Gaëtan Garraux, Olivier Hougrand, Rudy Van Coster, Valerie Benoit, Deniz Karadurmus, Guy Lenaers, Naïg Gueguen, Arnaud Chevrollier, Isabelle Maystadt
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Mutations in DNM1L (DRP1), which encode a key player of mitochondrial and peroxisomal fission, have been reported in patients with the variable phenotypic spectrum, ranging from non-syndromic optic atrophy to lethal infantile encephalopathy. Here, we
Externí odkaz:
https://doaj.org/article/fb9e9eb0a6ec49f79860bee515199a0a
Autor:
Nicole Kattner, Nicola Dyson, Yvonne Bury, Dina Tiniakos, Kathryn White, Tracey Davey, Lena Eliasson, Lynn Tindale, Bart E Wagner, Minna Honkanen‐Scott, Jennifer Doyle, Rutger J Ploeg, James AM Shaw, William E Scott III
Publikováno v:
The Journal of Pathology: Clinical Research, Vol 7, Iss 2, Pp 173-187 (2021)
Abstract The pancreas is particularly sensitive to acute cellular stress, but this has been difficult to evaluate using light microscopy. Pancreatic ischaemia associated with deceased organ donation negatively impacts whole‐organ and isolated‐isl
Externí odkaz:
https://doaj.org/article/88878d47ae30414da6bdc968a2c6a873
Autor:
Joanne Lacey, Simon J. Webster, Paul R. Heath, Chris J. Hill, Lucinda Nicholson-Goult, Bart E. Wagner, Abdullah O. Khan, Neil V. Morgan, Michael Makris, Martina E. Daly
Publikováno v:
Haematologica, Vol 107, Iss 8 (2022)
Germline defects affecting the DNA-binding domain of the transcription factor FLI1 are associated with a bleeding disorder that is characterized by the presence of large, fused α-granules in platelets. We investigated whether the genes showing abnor
Externí odkaz:
https://doaj.org/article/5e8049395ae1492595e078a91e38c33b
Publikováno v:
Diagnostic Histopathology. 29:308-310
Publikováno v:
Orbit. :1-6
A 47-year-old female developed a reddish swelling of the right medial canthus over 3 months. On examination, a red, firm mass, involving the right medial canthal and extending into the inferior fornix was present and the globe was displaced upwards a
Autor:
Charlène Lhuissier, Bart E. Wagner, Amy Vincent, Gaëtan Garraux, Olivier Hougrand, Rudy Van Coster, Valerie Benoit, Deniz Karadurmus, Guy Lenaers, Naïg Gueguen, Arnaud Chevrollier, Isabelle Maystadt
Publikováno v:
Lhuissier, C, Wagner, B E, Vincent, A, Garraux, G, Hougrand, O, Van Coster, R, Benoit, V, Karadurmus, D, Lenaers, G, Gueguen, N, Chevrollier, A & Maystadt, I 2022, ' Case report : Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant ', Frontiers in neurology, vol. 13, 937885 . https://doi.org/10.3389/fneur.2022.937885
Mutations in DNM1L (DRP1), which encode a key player of mitochondrial and peroxisomal fission, have been reported in patients with the variable phenotypic spectrum, ranging from non-syndromic optic atrophy to lethal infantile encephalopathy. Here, we
Autor:
Francesca Saini, Aryan Vink, Sarah Parsons, Mary N. Sheppard, Nilesh J. Samani, Ania A Baranowska-Clarke, David Adlam, Marios Margaritis, Charley A. Budgeon, Bart E. Wagner, Natalie Alcock, Jan H. von der Thüsen, Jan Lukas Robertus
Publikováno v:
Cardiovascular Research. 118:1835-1848
AIMS Spontaneous coronary artery dissection (SCAD) is a cause of acute coronary syndromes and in rare cases sudden cardiac death (SCD). Connective tissue abnormalities, coronary inflammation, increased coronary vasa vasorum density and coronary fibro
Autor:
Lynn Tindale, Minna Honkanen-Scott, Nicole Kattner, Dina Tiniakos, Bart E. Wagner, Nicola Dyson, Rutger J. Ploeg, Lena Eliasson, James Shaw, Tracey Davey, Kathryn White, Yvonne Bury, William E. Scott, Jennifer Doyle
Publikováno v:
The Journal of Pathology: Clinical Research
The Journal of Pathology: Clinical Research, Vol 7, Iss 2, Pp 173-187 (2021)
The Journal of Pathology: Clinical Research, Vol 7, Iss 2, Pp 173-187 (2021)
The pancreas is particularly sensitive to acute cellular stress, but this has been difficult to evaluate using light microscopy. Pancreatic ischaemia associated with deceased organ donation negatively impacts whole-organ and isolated-islet transplant
Autor:
Pierre Foskett, Richard J. Thompson, Laura N. Bull, Melissa Sambrotta, Piotr Czubkowski, Maesha Deheragoda, Irena Jankowska, Rebecca Ellmers, Bart E. Wagner, Sandra Strautnieks
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition
Objectives While a number of genetic forms of cholestasis have been identified, the genetic etiology of disease remains unidentified in a subset of cholestasis patients. Methods Whole exome sequencing (WES) was performed in DNA from patients diagnose
Publikováno v:
Diagnostic Histopathology. 27:167-169
We present a clinical case with histopathological findings of an adult presentation of nephrotic syndrome complicated by acute kidney injury (AKI) following a CT contrast study. A 45-year old female with no significant past medical history was admitt