Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jonathan Bruty"'
Autor:
Jennifer Hague, Ruth Casey, Jonathan Bruty, Tom Legerton, Stephen Abbs, Susan Oddy, Andrew S Powlson, Mohamed Majeed, Mark Gurnell, Soo-Mi Park, Helen Simpson
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2018)
Activating mutations in AVPR2 are associated with nephrogenic syndrome of inappropriate antidiuresis (NSIAD). NSIAD causes hyponatremia, decreased serum osmolality and clinical symptoms, which may present from birth or in infancy and include hypotoni
Externí odkaz:
https://doaj.org/article/1abe7f5dce5a496e8663179c8fb1a3f5
Publikováno v:
Journal of Cutaneous Pathology. 49:1031-1034
Autor:
James A. Watkins, Helen Hatcher, Shalini Malhotra, Furrat Amen, Jonathan Bruty, Jamie Trotman, Patrick Tarpey, John A. Tadross
Publikováno v:
Head and Neck Pathology.
Autor:
Lucy Loong, Catherine Huntley, Fiona McRonald, Francesco Santaniello, Joanna Pethick, Bethany Torr, Sophie Allen, Oliver Tulloch, Shilpi Goel, Brian Shand, Tameera Rahman, Margreet Luchtenborg, Alice Garrett, Richard Barber, Tina Bedenham, David Bourn, Kirsty Bradshaw, Claire Brooks, Jonathan Bruty, George J Burghel, Samantha Butler, Chris Buxton, Alison Callaway, Jonathan Callaway, James Drummond, Miranda Durkie, Joanne Field, Lucy Jenkins, Terri P McVeigh, Roger Mountford, Rodney Nyanhete, Evgenia Petrides, Rachel Robinson, Tracy Scott, Victoria Stinton, James Tellez, Andrew J Wallace, Laura Yarram-Smith, Kate Sahan, Nina Hallowell, Diana M Eccles, Paul Pharoah, Marc Tischkowitz, Antonis C Antoniou, D Gareth Evans, Fiona Lalloo, Gail Norbury, Eva Morris, John Burn, Steven Hardy, Clare Turnbull
Publikováno v:
Journal of medical genetics.
Peer reviewed: True
OBJECTIVE: To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration Service (NDRS) by the NHS
OBJECTIVE: To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration Service (NDRS) by the NHS
Autor:
Mayen Briggs, Jonathan Bruty, Dominic O’Donovan, Hongxiang Liu, Marc Tischkowitz, Patrick Tarpey, Ekkehard Hewer, Olivier Giger
Publikováno v:
Neuro-Oncology. 24:iv16-iv16
AIMS The DNA mismatch repair (MMR) system is critical for genomic stability correcting errors generated during DNA replication with germline pathogenic variants (PVs) causing Lynch syndrome. Although acquired MMR deficiency is associated with temozol
Autor:
Patricia Ramos, María José Sánchez-Soler, Alison Stewart, Nicolas Chassaing, Jonathan Bruty, Patrick Calvas, Domingo Aguilera-Garcia, Helen Stewart, Dominic J. McMullan, Dorine Bax, Yvonne Wallis, Alan Fryer, Anand Saggar, Carmen Ayuso, Cristina Villaverde, Fabiola Ceroni, Marta Corton, Luciana Rodrigues Jacy da Silva, Lisa Cooper-Charles, Michael J. Griffiths, Victoria McKay, Jonathan Hoffman, Maria Tarilonte, David J. Bunyan, María Juliana Ballesta-Martínez, Nicola K. Ragge, Richard J. Holt, Katherine Lachlan, Fiona Blanco-Kelly, Joelle Roume, Pascal Dureau
Publikováno v:
Human Genetics
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩
International audience; GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::122f27747b3dc12ebac73973e54e0086
https://ut3-toulouseinp.hal.science/hal-03542896
https://ut3-toulouseinp.hal.science/hal-03542896
Autor:
Mark Gurnell, Susan Oddy, Soo-Mi Park, Mohamed Ashif Majeed, Helen Simpson, Jennifer Hague, Jonathan Bruty, Andrew S. Powlson, Tom Legerton, Stephen Abbs, Ruth T Casey
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2018)
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2018)
Summary Activating mutations in AVPR2 are associated with nephrogenic syndrome of inappropriate antidiuresis (NSIAD). NSIAD causes hyponatremia, decreased serum osmolality and clinical symptoms, which may present from birth or in infancy and include
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc7e2b707e4644023bcc388c26a3bcfd
Publikováno v:
Bioinformatics (Oxford, England). 28(21)
Mass spectrometry is widely used in bioanalysis, including the fields of metabolomics and proteomics, to simultaneously measure large numbers of molecules in complex biological samples. Contaminants routinely occur within these samples, for example,