Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Dairena Gaffney"'
Autor:
Clive R. Pullinger, Dairena Gaffney, Monica M. Gutierrez, Mary J. Malloy, Verne N. Schumaker, Chris J. Packard, John P. Kane
Publikováno v:
Journal of Lipid Research, Vol 40, Iss 2, Pp 318-327 (1999)
Familial ligand-defective apolipoprotein B (apoB) is a group of disorders caused by mutations in the apoB gene. In this report the R3531C mutation is characterized further using a monoclonal antibody MB19/dynamic laser light scattering technique to m
Externí odkaz:
https://doaj.org/article/0c33587e40b84a90b52f268224d592a2
Autor:
Richard J. Spooner, Andrew Kerry, Caroline Haig, Catherine Ogilvie, Edward J. Fitzsimons, Dairena Gaffney, Heather Murray
Publikováno v:
Journal of Clinical Pathology. 68:218-221
Aims There is high prevalence of hereditary haemochromatosis (HH) in North European populations, yet the diagnosis is often delayed or missed in primary care. Primary care physicians frequently request serum ferritin (SF) estimation but appear uncert
Autor:
A. Michael Wallace, Thorsten M. Hoffmann, Dairena Gaffney, A. Forbes Howie, Malcolm Donaldson, Anwar M. El. Bakkush, J. Ian Mason
Publikováno v:
The Journal of Steroid Biochemistry and Molecular Biology. 123:109-114
The study subject was a 13 day-old boy admitted to hospital, with weight loss since birth. He presented with the vomiting and hypotension that are classical features of congenital adrenal hyperplasia (CAH). The most common type of CAH is an autosomal
Autor:
J.C. Keith, P.C. Lai, Jai Won Chang, An S. De Vriese, Yuewen Gong, Siska Mortier, Peter G. Tipping, Dairena Gaffney, H.T. Cook, Su Kil Park, K.A. Chaudhry, Shannon R. Armstrong, Ning Zu, Julie H. Campbell, Soon Bae Kim, Alan G. Jardine, Melissa H. Little, Frederick W.K. Tam, Jennifer R. Timoshanko, Jung Sik Park, Ashwani Khanna, J. Michael Boulton-Jones, Fujio Shimizu, Jennifer Smith, Bin Wang, Catherine M. Shanahan, Ping Li, Yajun Li, Choung Soo Kim, G. Bhangal, Afshin Farzaneh-Far, Marion Gericke, Dirk Faict, Sang Koo Lee, Charles Pusey, Nicola Joss, Anil Chaudhry, Norbert Lameire, Gordon R. Campbell
Publikováno v:
Nephron Experimental Nephrology. 101:e181-e184
Autor:
Ian R Gunn, Dairena Gaffney
Publikováno v:
Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 41:441-458
Mutations in the calcium-sensing receptor gene ( CaSR) may result in disorders of calcium homeostasis manifesting as familial benign hypocalciuric hypercalcaemia (FBHH), neonatal severe hyperparathyroidism (NSHPT) or autosomal dominant hypocalcaemia
Autor:
Valerie Wilson, Peter S. Braund, Muriel J. Caslake, Christopher J. Packard, Dilys J. Freeman, Suzanne Cheng, Nilesh J. Samani, Dairena Gaffney, Alex D. McMahon
Publikováno v:
European Heart Journal. 24:1833-1842
Aim The association of cholesteryl ester transfer protein (CETP) gene polymorphisms with risk of a cardiovascular event and whether any association was explained by an influence on high-density lipoprotein (HDL) levels or low-density lipoprotein (LDL
Autor:
Gerald F. Watts, Medha V. Kulkarni, Dairena Gaffney, Isobel M. Cameron, Christopher J. Packard, John P. Kane, Clive R. Pullinger, J.Keith Vass, Michael S. Hoffs, Verne N. Schumaker, Denis St. J. O’Reilly
Publikováno v:
Clinica Chimica Acta. 321:113-121
Background: Three mutations in the apolipoprotein B (apoB) gene have previously been established as important causes of impaired receptor binding of LDL and, hence, Familial Defective Apolipoprotein B 100 (FDB). Previously, undescribed mutations were
Autor:
Irene Rebelo, Alice Santos-Silva, Luís Pereira-Leite, Luís Belo, Dairena Gaffney, Muriel J. Caslake, Alexandre Quintanilha
Publikováno v:
Atherosclerosis. 162:425-432
The aim of this study was to evaluate changes in lipids, apolipoproteins and lipoproteins in Portuguese pregnant women and their potential involvement in the pathophysiology of preeclampsia. A cross-sectional study was performed by collecting blood s
Publikováno v:
Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 39:293-303
Background Current methods for the molecular diagnosis of the 21-hydroxylase deficiency variant of congenital adrenal hyperplasia use cumbersome combinations of Southern blotting and polymerase chain reaction (PCR). The aim of the present study was t
Publikováno v:
Journal of Clinical Pathology. 53:807-812
Wilson's disease, the most common inherited disorder of copper metabolism, is a recessive genetic condition. The clinical presentation of Wilson's disease is very variable. It is characterised by low serum copper and caeruloplasmin concentrations cou