Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Gemma White"'
Tumour detection and outcomes of surveillance screening in SDHB and SDHD pathogenic variant carriers
Autor:
Gemma White, Anand Velusamy, Samantha Anandappa, Michael Masucci, Louise A Breen, Mamta Joshi, Barbara McGowan, Johnathan G H Hubbard, Rupert Obholzer, Dimitra Christodoulou, Audrey Jacques, Philip Touska, Fahim-Ul Hassan, Louise Izatt, Paul V Carroll
Publikováno v:
Endocrine Connections, Vol 11, Iss 2, Pp 1-8 (2022)
Objective: Succinate dehydrogenase subunit (SDHx) pathogenic variants predispose to phaeochromocytoma and paraganglioma (PPGL). Lifelong surveillance is recommended for all patients to enable prompt detection and treatment. There is currently limited
Externí odkaz:
https://doaj.org/article/36c51d78b84d4c5b98d2abfda8669ee6
Autor:
MARTIN O SAVAGE, Lee Martin, Gemma White, Helen L Storr, Shakira Cosier, Afiya Andrews, Ruben Willemsen
Publikováno v:
BMJ Paediatrics Open, Vol 6, Iss 1 (2022)
Objective The aim of this observational study was to evaluate the UK and Dutch referral criteria for short stature to determine their sensitivity and specificity in predicting pathological short stature. Adherence to the recommended panel of investig
Externí odkaz:
https://doaj.org/article/e23debc9c18c4bb59ddb038eef9c06d8
Publikováno v:
BMJ Neurology Open, Vol 3, Iss Suppl 1 (2021)
Externí odkaz:
https://doaj.org/article/56e243393877442b97073b8b89ab5009
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2019)
At least 40% of phaeochromocytomas and paraganglioma’s (PPGLs) are associated with an underlying genetic mutation. The understanding of the genetic landscape of these tumours has rapidly evolved, with 18 associated genes now identified. Among the
Externí odkaz:
https://doaj.org/article/e6582f8ab43948739a3d1eaa3ab572c8
Autor:
Philip G. Humphreys, Niall A. Anderson, Paul Bamborough, Andrew Baxter, Chun-wa Chung, Rosa Cookson, Peter D. Craggs, Toryn Dalton, Julie C. L. Fournier, Laurie J. Gordon, Heather F. Gray, Matthew W. Gray, Richard Gregory, David J. Hirst, Craig Jamieson, Katherine L. Jones, Hripsimee Kessedjian, David Lugo, Grant McGonagle, Vipulkumar K. Patel, Christopher Patten, Darren L. Poole, Rab K. Prinjha, Cesar Ramirez-Molina, Inmaculada Rioja, Gail Seal, Kayleigh A. J. Stafford, Rishi R. Shah, Daniel Tape, Natalie H. Theodoulou, Laura Tomlinson, Sabri Ukuser, Ian D. Wall, Natalie Wellaway, Gemma White
Publikováno v:
Journal of Medicinal Chemistry. 65:15174-15207
The bromodomain and extra terminal (BET) family of proteins are an integral part of human epigenome regulation, the dysregulation of which is implicated in multiple oncology and inflammatory diseases. Disrupting the BET family bromodomain acetyl-lysi
Autor:
Arun Aggarwal, G.M. Halmagyi, Elizabeth O Thompson, Michael J. Fulham, Shadi El-Wahsh, Gemma White, David Greenup
Publikováno v:
Journal of Neurology. 269:2219-2221
Autor:
Gemma White, Shakira Cosier, Afiya Andrews, Lee Martin, Ruben Willemsen, Martin O Savage, Helen L Storr
Publikováno v:
BMJ paediatrics open. 6(1)
ObjectiveThe aim of this observational study was to evaluate the UK and Dutch referral criteria for short stature to determine their sensitivity and specificity in predicting pathological short stature. Adherence to the recommended panel of investiga
Autor:
Gemma White, Shakira Cosier, Afiya Andrews, Ruben H. Willemsen, Martin O. Savage, Helen L. Storr
Publikováno v:
Endocrine Abstracts.
Autor:
Shadi, El-Wahsh, David, Greenup, Gemma, White, Elizabeth O, Thompson, Arun, Aggarwal, Michael J, Fulham, Gabor Michael, Halmagyi
Publikováno v:
Journal of neurology. 269(4)
Autor:
Anand Velusamy, Angela F. Brady, Joseph Carlow, Huw Dorkins, Rebecca Igbokwe, Benjamin Whitelaw, Teng-Teng Chung, Rachel Harrison, Fiona Lalloo, Paul Brennan, Louise Izatt, Schaida Schirwani, Alan Kelsall, Barbara McGowan, Sophie T Williams, Rosemarie Davidson, Paul V. Carroll, Nicola Tufton, Patrick J. Morrison, Soo-Mi Park, Christopher Bowles, John Newell-Price, Julian Adlard, Monika Kosicka-Slawinska, Eamonn R. Maher, Richard M. Martin, Lara Hawkes, Rebecca Dyer, Scott Akker, Rupert Obholzer, Florian Wernig, Tricia Tan, Ruth T Casey, Prodromos Chatzikyriakou, Gemma White, Anna L. Mitchell, Mary Porteous
Publikováno v:
Clinical endocrinologyREFERENCES. 96(4)
Objective Phaeochromocytomas and paragangliomas (PPGL) are rare, but strongly heritable tumours. Variants in succinate dehydrogenase (SDH) subunits are identified in approximately 25% of cases. However, clinical and genetic information of patients wi