Results 41 to 50 of about 1,175,166 (233)

Clinical genetics in cardiology [PDF]

Heart, 2006
The recent and rapid development of molecular genetics in cardiovascular diseases has created a new understanding of their pathogenesis and natural history, and also new possibilities for the diagnosis of these genetic disorders through genetic testing.
openaire   +3 more sources

Calcium Release Deficiency Syndrome (CRDS): Rethinking “Atypical” Catecholaminergic Polymorphic Ventricular Tachycardia

Cardiogenetics
Since the first description of catecholaminergic polymorphic ventricular tachycardia (CPVT) in the 1970s, new insights have progressively unraveled the understanding of this inherited arrhythmia syndrome.
Alessandra P. Porretta, Etienne Pruvot, Zahurul A. Bhuiyan   +2 more
doaj   +1 more source

Association of pulse wave velocity with single nucleotide polymorphisms related to parathyroid hormone

Blood Pressure, 2018
Objective: Carotid-femoral pulse wave velocity (cfPWV) was associated with serum parathyroid hormone (PTH) in untreated Chinese. We investigated in the same cohort whether cfPWV, brachial-ankle (baPWV) and heart-brachial (hbPWV) pulse wave velocity (PWV)
Yi-Bang Cheng, Qian-Hui Guo, Dong-Yan Zhang, Ying Wang, Qi-Fang Huang, Chang-Sheng Sheng, Ji-Guang Wang, Jan A. Staessen, Yan Li   +8 more
doaj   +1 more source

Portrayal of psychiatric genetics in Australian print news media, 1996-2009 [PDF]

, 2011
Objective: To investigate how Australian print news media portray psychiatric genetics. Design and setting: Content and framing analysis of a structured sample of print news items about psychiatric genetics published in Australian newspapers between 1996
Bonfiglioli, C, Meiser, B, Mitchell, PB, Schofield, PR, Wilde, A   +4 more
core   +1 more source

More on Clinical Renal Genetics [PDF]

Clinical Journal of the American Society of Nephrology, 2010
Epidemiologic studies of rare diseases may produce surprising findings and raise ethical issues. This is illustrated in this study performed in 171,977 consecutive Taiwanese newborns (including 90,288 boys) from July 2006 through June 2008 by measuring dry blood spot and then leukocyte -galactosidase A ( -Gal A) activities and finally by detecting ...
Grunfeld, J.P., Hwu, W., Chien, Y., Lee, N., Chiang, S., Dobrovolny, R., Huang, A., Yeh, H., Chao, M., Lin, S., Kitagawa, T., Desnick, R., Hsu, L., Keimpema, L. van, Nevens, F., Vanslembrouck, R., Oijen, G. Van, Hoffmann, A., Dekker, H., Man, R. de, Drenth, J.P.H., Alamovitch, S., Plaisier, E., Favrole, P., Prost, C., Chen, Z., Agrmael, T. Van, Marro, B., Ronco, P., Zivna, M., Hulkova, H., Matignon, M., Hodanova, K., Vylet'al, P., Kalbacova, M., Baresova, V., Sikora, J., Blazkova, H., Zivny, J., Ivanek, R., Stranecky, V., Sovova, J., Claes, K., Lerut, E., Fryns, J.P., Hart, P. t, Hart, T., Adams, J., Pawtowski, A., Clemessy, M., Gasc, J., Gubler, M., Antignac, C., Elleder, M., Kapp, K., Grimbert, P., Bleyer, A., Kmoch, S., Brown, E., Schlondorff, J., Becker, D.J., Tsukaguchi, H., Uschinski, A., Higgs, H., Henderson, J., Pollak, M.   +65 more
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Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology

Diagnostics, 2020
In degenerative adult onset ataxia (AOA), dystonic comorbidity is attributed to one disease continuum. However, in early adult onset ataxia (EOA), the prevalence and pathogenesis of dystonic comorbidity (EOAD+), are still unclear.
Deborah A. Sival, Martinica Garofalo, Rick Brandsma, Tom A. Bokkers, Marloes van den Berg, Tom J. de Koning, Marina A. J. Tijssen, Dineke S. Verbeek   +7 more
doaj   +1 more source

Rare Genetic Diseases: Nature's Experiments on Human Development

iScience, 2020
Rare genetic diseases are the result of a continuous forward genetic screen that nature is conducting on humans. Here, we present epistemological and systems biology arguments highlighting the importance of studying these rare genetic diseases.
Chelsea E. Lee, Kaela S. Singleton, Melissa Wallin, Victor Faundez   +3 more
doaj   +1 more source

Genetics in Clinical Trials [PDF]

, 2009
Clinical trials provide the ‘evidence’ in evidence-based medicine. Despite their cost and complexity, clinical trials save society billions of dollars [1]. Recent advances have enabled genome-wide analyses of single nucleotide polymorphisms in complex diseases. Such analyses require large sample sizes and thus depend on collaborative efforts.
James F. Meschia, Katrina Gwinn
openaire   +3 more sources

External quality assessment of molecular biology-based methods used in laboratories of clinical chemistry and human genetics [PDF]

, 1998
The Reference Institute of Bioanalysis of the German Society of Clinical Chemistry has performed the first external assessment of molecular genetics methods used in medical diagnosis.
Braun, Andreas, Deufel, Thomas, Geilenkeuser, Wolf-Jochen, Neumaier, Michael, Roscher, Adelbert, Röhle, Gerhard, Wagener, Christoph   +6 more
core   +1 more source

Clinical Genetics in Britain: Origins and development [PDF]

, 2010
Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010.©The Trustee of the ...
Harper, PS, Reynolds, LA, Tansey, EM
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