Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Nandini Sadasivam"'
Autor:
Dimitris A. Tsitsikas, Susan Rowe, Alessandra Bosch, Caitlyn Hui, Nandini Sadasivam, Nicolaos J. Palaskas, Shivan Pancham, Syed Rizvi, Joseph Taylor, Paul Greaves, Andreas Glenthøj, Marianne Hoffmann, Emma Drasar, Perla Eleftheriou
Publikováno v:
British journal of haematologyReferences.
Autor:
Adrian Williams, Nandini Sadasivam, Sally Pollard, Karolina M Stepien, Godfrey T. Gillett, Anthony Catchpole, Andreas Tridimas, Kirsty Mellor
Publikováno v:
JIMD Reports
Acaeruloplasminemia is a rare autosomal recessive condition caused by inactivating mutations of the CP gene encoding caeruloplasmin (ferroxidase). Caeruloplasmin is a copper‐containing plasma ferroxidase enzyme with a key role in facilitating cellu
Autor:
Eva-Lena Maria Stattin, Christian Babbs, Johan Mäkk, Sanja Brolih, Caroline Scott, Damien J. Downes, Aude-Anais Olijnik, Melanie Proven, Kate Ryan, Douglas R. Higgs, Raffaele Renella, Quentin A. Hill, Anja Groth, Jill M. Brown, Katrine Ask, Nandini Sadasivam, Louisa McIlwaine, Ria Hipkiss, Veronica J. Buckle, Jim R. Hughes, Joseph A. Marsh, Noémi B. A. Roy, Per Frisk, Barbara Xella, Peter J. McHugh, Richard J. Gibbons, Errin Johnson, Karin Lauschke, Nigel A. Roberts
Publikováno v:
Olijnik, A-A, Roy, N B A, Scott, C, Marsh, J A, Brown, J, Lauschke, K, Ask, K, Roberts, N, Downes, D J, Brolih, S, Johnson, E, Xella, B, Proven, M, Hipkiss, R, Ryan, K, Frisk, P, Mäkk, J, Stattin, E-L M, Sadasivam, N, McIlwaine, L, Hill, Q A, Renella, R, Hughes, J R, Gibbons, R J, Groth, A, McHugh, P J, Higgs, D R, Buckle, V J & Babbs, C 2020, ' Genetic and functional insights into CDA-I prevalence and pathogenesis ', Journal of Medical Genetics, vol. 58, pp. 185-195 . https://doi.org/10.1136/jmedgenet-2020-106880
J Med Genet
Olijnik, A A, Roy, N B A, Scott, C, Marsh, J A, Brown, J, Lauschke, K, Ask, K, Roberts, N, Downes, D J, Brolih, S, Johnson, E, Xella, B, Proven, M, Hipkiss, R, Ryan, K, Frisk, P, Mäkk, J, Stattin, E L M, Sadasivam, N, McIlwaine, L, Hill, Q A, Renella, R, Hughes, J R, Gibbons, R J, Groth, A, McHugh, P J, Higgs, D R, Buckle, V J & Babbs, C 2021, ' Genetic and functional insights into CDA-I prevalence and pathogenesis ', Journal of Medical Genetics, vol. 58, pp. 185-195 . https://doi.org/10.1136/jmedgenet-2020-106880
Olijnik, A-A, Roy, N, Scott, C, Marsh, J, Lauschke, K, Ask, K, Roberts, N, Downes, D J, Brown, J, Brolih, S, Johnson, E, Xella, B, Proven, M, Hipkiss, R, Ryan, K, Frisk, P, Makk, J, Stattin, E, Sadasivam, N, McIlwaine, L, Hill, Q A, Renella, R, Hughes, J R, Gibbons, R, Groth, A, McHugh, P J, Higgs, D R, Buckle, V J & Babbs, C 2020, ' Genetic and Functional Insights into CDA-I Prevalence and Pathogenesis ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-106880
J Med Genet
Olijnik, A A, Roy, N B A, Scott, C, Marsh, J A, Brown, J, Lauschke, K, Ask, K, Roberts, N, Downes, D J, Brolih, S, Johnson, E, Xella, B, Proven, M, Hipkiss, R, Ryan, K, Frisk, P, Mäkk, J, Stattin, E L M, Sadasivam, N, McIlwaine, L, Hill, Q A, Renella, R, Hughes, J R, Gibbons, R J, Groth, A, McHugh, P J, Higgs, D R, Buckle, V J & Babbs, C 2021, ' Genetic and functional insights into CDA-I prevalence and pathogenesis ', Journal of Medical Genetics, vol. 58, pp. 185-195 . https://doi.org/10.1136/jmedgenet-2020-106880
Olijnik, A-A, Roy, N, Scott, C, Marsh, J, Lauschke, K, Ask, K, Roberts, N, Downes, D J, Brown, J, Brolih, S, Johnson, E, Xella, B, Proven, M, Hipkiss, R, Ryan, K, Frisk, P, Makk, J, Stattin, E, Sadasivam, N, McIlwaine, L, Hill, Q A, Renella, R, Hughes, J R, Gibbons, R, Groth, A, McHugh, P J, Higgs, D R, Buckle, V J & Babbs, C 2020, ' Genetic and Functional Insights into CDA-I Prevalence and Pathogenesis ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-106880
BackgroundCongenital dyserythropoietic anaemia type I (CDA-I) is a hereditary anaemia caused by biallelic mutations in the widely expressed genes CDAN1 and C15orf41. Little is understood about either protein and it is unclear in which cellular pathwa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::028e96328f2aa1322c6bd5ccd97632f9
https://curis.ku.dk/ws/files/290041631/Genetic_and_functional_insights_into_CDA_I_prevalence_and_pathogenesis_proof_version_.pdf
https://curis.ku.dk/ws/files/290041631/Genetic_and_functional_insights_into_CDA_I_prevalence_and_pathogenesis_proof_version_.pdf
Publikováno v:
British Journal of Haematology. 165:584-584
Autor:
Bridget S. Wilkins, Jonathan White, Deepti Radia, Nandini Sadasivam, Clive Grattan, Nicholas C.P. Cross, Claire N. Harrison, Jon van der Walt, Mufaddal Moonim, Jennifer J Thomson
Publikováno v:
Blood. 116:5052-5052
Abstract 5052 Introduction: Systemic mastocytosis(SM) is diagnosed when clonal, neoplastic mast cells are demonstrated in extracutaneous tissues. SM is a heterogeneous disorder ranging from indolent disease to aggressive multisystem involvement. We h