Results 21 to 30 of about 309,203 (310)

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]

, 2003
BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F., Jafri, H., McKibbin, M.A., Mohamed, M.D., Raashed, Y., Topping, N.C   +5 more
core   +1 more source

Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations

Orphanet Journal of Rare Diseases, 2023
Background Inherited Metabolic Disorders (IMDs) are rare diseases where one impaired protein leads to a cascade of changes in the adjacent chemical conversions.
Denise N. Slenter, Irene M. G. M. Hemel, Chris T. Evelo, Jörgen Bierau, Egon L. Willighagen, Laura K. M. Steinbusch   +5 more
doaj   +1 more source

Prevalence of Disorders Recorded in Dogs Attending Primary-Care Veterinary Practices in England [PDF]

, 2014
Purebred dog health is thought to be compromised by an increasing occurence of inherited diseases but inadequate prevalence data on common disorders have hampered efforts to prioritise health reforms. Analysis of primary veterinary practice clinical data
A Agresti, A Egenvall, A Egenvall, A Egenvall, A Egenvall, A Hillier, A Kathrani, A Neuber, AB Stone, AJ German, AJ German, AM Lourenço-Martins, B Wilson, BN Bonnett, C Albuquerque, C Mellersh, Cheryl S. Rosenfeld, CL Aragon, Dan G. O′Neill, Dave C. Brodbelt, David B. Church, DD Sleator, DN Irion, DR Ownby, E Friedmann, EM Lund, F Walsh, FC Calboli, FD McMillan, FJD Smith, G Chodick, G Dank, G Leroy, GC Knight, GM Gobar, GP Page, H Soll-Johanning, HD Pedersen, HE Hein, J Virués-Ortega, JE Houlton, JF Summers, JI Hudson, JK Murray, JLN Wood, JM Fleming, JS Rand, KD Mandl, L Asher, L Asher, L Kearsley-Fleet, LM Collins, LM Collins, M Aickin, MB Willis, MK Rust, MP Starkey, MR Slater, MW Neff, MY Powers, N Pearce, NJ Rooney, NJ Rooney, P Froom, P Royston, Paul D. McGreevy, PC Bartlett, PD McGreevy, PD McGreevy, Peter C. Thomson, PM Mountziaris, R Bender, R Feise, R Marsella, R Medzhitov, RM Batt, RMA Packer, S Brady, S Crispin, S Greenland, S Platt, SFJ Hodgman, T Lewis, T Lewis, TP Bellumori, TW Lewis, U John, VJ Adams, WB Lober, Å Vilson   +89 more
core   +3 more sources

Inherited Hyperuricemic Disorders [PDF]

, 2004
Inherited hyperuricemic disorders fall into two major classes, metabolic overproduction of purines and renal tubular undersecretion. The aim was to explore both. Methodology was a combination of personal experience and review of relevant literature.
openaire   +3 more sources

Inhibitors in Patients with Congenital Bleeding Disorders Other Than Hemophilia [PDF]

, 2017
The most worrying complication of replacement therapy for severe hemophilia A and B is currently the occurrence of inhibitory alloantibodies against infused factor VIII and factor IX, respectively.
Franchini, Massimo, Liumbruno, Giancarlo Maria, Marano, Giuseppe, Mengoli, Carlo, Piccinini, Vanessa, Pupella, Simonetta, Vaglio, Stefania   +6 more
core   +1 more source

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives

Clinical Ophthalmology, 2023
Ali Osman Saatci,1 Ferdane Ataş,2 Gökhan Ozan Çetin,3 Mustafa Kayabaşı1 1Department of Ophthalmology, Dokuz Eylul University, Izmir, Turkey; 2Department of Ophthalmology, Çerkezköy State Hospital, Tekirdağ, Turkey; 3Department
Saatci AO, Ataş F, Çetin GO, Kayabaşı M   +3 more
doaj  

Demography and disorders of German Shepherd Dogs under primary veterinarycare in the UK [PDF]

, 2017
The German Shepherd Dog (GSD) has been widely used for a variety of working roles. However, concerns for the health and welfare of the GSD have been widely aired and there is evidence that breed numbers are now in decline in the UK.
A Agresti, A Egenvall, A Gough, A Kathrani, A Kyriazis, A Peiravan, AJ German, AK Hielm-Björkman, AL Holder, AR Michell, BR Kirkwood, C Kraus, C Selman, CE Griffin, D Clements, D O'Neill, DG O'Neill, DG O'Neill, DG O'Neill, DJ Batchelor, E O'Sullivan, E Sturaro, E Westermarck, EL Buckland, EM Lund, EM Lund, F Galis, G Diesel, GJ Patronek, GK Smith, H Abdi, HE Salvin, J Fatjo, J Summers, JF Summers, JM Dobson, JM Fleming, JM Wahl, JMR Cornelissen, JP Genevois, K Svartberg, K Svartberg, KA Gershman, KA Greer, KE Bergvall, KL Overall, L Asher, L Asher, LJ Kennedy, LM Collins, LM Collins, M Downes, M Petazzoni, MI Benninger, N Ondreka, N Pearce, N Rooney, NJ Robinson, NJ Rooney, P Bateson, P Saetre, P Sandøe, R Packer, R Zeng, RMA Packer, S Breit, SR Urfer, TH Witsberger, VJ Adams, Å Vilson   +69 more
core   +1 more source

Epigenetic Biomarkers for Environmental Exposures and Personalized Breast Cancer Prevention. [PDF]

, 2020
Environmental and lifestyle factors are believed to account for >80% of breast cancers; however, it is not well understood how and when these factors affect risk and which exposed individuals will actually develop the disease.
Park, Hannah Lui
core   +1 more source

Thrombosis in Inherited Fibrinogen Disorders [PDF]

Transfusion Medicine and Hemotherapy, 2017
Although inherited fibrinogen disorders (IFD) are primarily considered to be bleeding disorders, they are associated with a higher thrombotic complication risk than defects in other clotting factors. Managing IFD patients with thrombosis is challenging as anticoagulant treatment may exacerbate the underlying bleeding risk which can be life-threatening.
Korte, W., Poon, M., Iorio, A., Makris, M.   +3 more
openaire   +2 more sources