Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Graeme R Clark"'
Autor:
Eleanor Fewings, Serena Khoo Sert Kim, Alexey Larionov, Alison Marker, Olivier Giger, Ashley Shaw, Graeme R Clark, Vasilis Kosmoliaptsis, Benjamin G Challis, Marc Tischkowitz, Ruth T Casey
Publikováno v:
Endocrine Oncology, Vol 1, Iss 1, Pp 33-44 (2023)
Background: Malignant oncocytic adrenocortical neoplasms (OANs) are rare tumours with a distinctive biological behaviour compared to conventional adrenocortical carcinoma (ACC). The current prognostic systems overestimate the malignant potential of t
Externí odkaz:
https://doaj.org/article/207b97908f4244269492d78c015990d7
Autor:
Seong Keat Cheah, Chad Ramese Bisambar, Deborah Pitfield, Olivier Giger, Rogier ten Hoopen, Jose-Ezequiel Martin, Graeme R Clark, Soo-Mi Park, Craig Parkinson, Benjamin G Challis, Ruth T Casey
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-7 (2021)
A 38-year-old female was identified as carrying a heterozygous pathogenic MEN1 variant (c.1304delG) through predictive genetic testing, following a diagnosis of familial hyperparathyroidism. Routine screening for parathyroid and pituitary disease was
Externí odkaz:
https://doaj.org/article/c9f0caffde984c3cbe47f04d220f4b90
Autor:
Evgeny A Glazov, Andreas Zankl, Marina Donskoi, Tony J Kenna, Gethin P Thomas, Graeme R Clark, Emma L Duncan, Matthew A Brown
Publikováno v:
PLoS Genetics, Vol 7, Iss 3, p e1002027 (2011)
Recent advances in DNA sequencing have enabled mapping of genes for monogenic traits in families with small pedigrees and even in unrelated cases. We report the identification of disease-causing mutations in a rare, severe, skeletal dysplasia, studyi
Externí odkaz:
https://doaj.org/article/50a6cbe398064faeb6c81e6666579853
Autor:
Ruth T. Casey, Rogier ten Hoopen, Eguzkine Ochoa, Benjamin G. Challis, James Whitworth, Philip S. Smith, Jose Ezequiel Martin, Graeme R. Clark, Fay Rodger, Mel Maranian, Kieren Allinson, Basetti Madhu, Thomas Roberts, Luis Campos, Joanne Anstee, Soo-Mi Park, Alison Marker, Colin Watts, Venkata R. Bulusu, Olivier T. Giger, Eamonn R. Maher
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Abstract The enzyme succinate dehydrogenase (SDH) functions in the citric acid cycle and loss of function predisposes to the development of phaeochromocytoma/paraganglioma (PPGL), wild type gastrointestinal stromal tumour (wtGIST) and renal cell carc
Externí odkaz:
https://doaj.org/article/e8bf863475e349e4b6af0bc8e9781f47
Autor:
Vasilis Kosmoliaptsis, Ashley Shaw, Benjamin G. Challis, Eleanor Fewings, Marc Tischkowitz, Serena Khoo Sert Kim, Alexey Larionov, Ruth T Casey, Olivier Giger, Alison Marker, Graeme R Clark
Publikováno v:
Endocrine Oncology. 1:33-44
Background Malignant oncocytic adrenocortical neoplasms (OANs) are rare tumours with a distinctive biological behaviour compared to conventional adrenocortical carcinoma (ACC). The current prognostic systems overestimate the malignant potential of th
Autor:
Eamonn R. Maher, Olivier Giger, Marlee S Fernando, Ruth T Casey, James A. G. Whitworth, Jaqueline Cook, Philip Smith, Phillipe Taniere, Graeme R. Clark, Nihr BioResource, Jose Ezequiel Martin
Publikováno v:
European Journal of Human Genetics
Funder: DH | National Institute for Health Research (NIHR); doi: https://doi.org/10.13039/501100000272
Funder: National Health Service
Funder: European Research Council (Advanced Researcher Award) Cancer Research UK Cambridge Cancer Centre
Funder: National Health Service
Funder: European Research Council (Advanced Researcher Award) Cancer Research UK Cambridge Cancer Centre
Autor:
Jonathan David, Catherine Hartley, Hannah Trivett, Graeme R. Clark, Abbie Harrison, Julian A. Hiscox, Yan Ryan
Depurination is a frequent modification to both DNA and RNA, in DNA causing point mutations through misincorporation, in RNA, disabling ribosomes and halting protein synthesis. Some modifications of nucleic acids can be determined by direct sequencin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c95093ec4a7cab22b9bd83e991477b54
https://doi.org/10.1101/2021.08.13.456275
https://doi.org/10.1101/2021.08.13.456275
Autor:
Jose Ezequiel Martin, Ruth T Casey, Soo-Mi Park, Benjamin G. Challis, Deborah Pitfield, Olivier Giger, Chad Ramese Bisambar, Seong Keat Cheah, Craig Parkinson, Rogier Ten Hoopen, Graeme R Clark
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-7 (2021)
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-7 (2021)
Summary A 38-year-old female was identified as carrying a heterozygous pathogenic MEN1 variant (c.1304delG) through predictive genetic testing, following a diagnosis of familial hyperparathyroidism. Routine screening for parathyroid and pituitary dis
Autor:
Diana Walsh, Graeme R. Clark, Ezequiel Martin, Neil V. Morgan, Louise Tee, Hannah Titheradge, Evan Reid, Mary O'Driscoll, Eamonn R. Maher, Bryndis Yngvadottir
Publikováno v:
Brain Communications
A subset of individuals diagnosed with cerebral palsy will have an underlying genetic diagnosis. Previously, a missense variant in GAD1 was described as a candidate mutation in a single family diagnosed with autosomal recessive spastic cerebral palsy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::963925c09b25fd4fb0d71debf31d4f84
Autor:
Venkata R. Bulusu, Philip Smith, James Whitworth, Basetti Madhu, Graeme R. Clark, Thomas Roberts, Alison Marker, Kieren Allinson, Ruth T Casey, Soo-Mi Park, Mel Maranian, Olivier Giger, Eguzkine Ochoa, Jose Ezequiel Martin, Colin Watts, Rogier ten Hoopen, Joanne Anstee, Fay Rodger, Eamonn R. Maher, Luis Miguel Pino Campos, Benjamin G. Challis
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reports
Scientific Reports
The enzyme succinate dehydrogenase (SDH) functions in the citric acid cycle and loss of function predisposes to the development of phaeochromocytoma/paraganglioma (PPGL), wild type gastrointestinal stromal tumour (wtGIST) and renal cell carcinoma. SD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5941746c1b6527ac8d94245524e35a9c