Results 21 to 30 of about 591,252 (334)

Diagnostically relevant facial gestalt information from ordinary photos

eLife, 2014
Craniofacial characteristics are highly informative for clinical geneticists when diagnosing genetic diseases. As a first step towards the high-throughput diagnosis of ultra-rare developmental diseases we introduce an automatic approach that implements ...
Quentin Ferry, Julia Steinberg, Caleb Webber, David R FitzPatrick, Chris P Ponting, Andrew Zisserman, Christoffer Nellåker   +6 more
doaj   +1 more source

Genetics in clinical oncology [PDF]

The Indian Journal of Pediatrics, 1982
This is the first book to provide a thorough grounding in the applications of genetics to cancer medicine, enabling the clinician to convey to patients and their families an understanding of the genetic nature of cancer, and to provide them with accurate advice.
openaire   +2 more sources

Beyond the exome: what's next in diagnostic testing for Mendelian conditions [PDF]

, 2023
Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise molecular diagnosis. Clinical evaluation is increasingly undertaken by specialists outside of clinical genetics, often occurring in a tiered fashion and typically ending ...
arxiv   +1 more source

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

Bayesian tensor factorization for predicting clinical outcomes using integrated human genetics evidence [PDF]

arXiv, 2022
The approval success rate of drug candidates is very low with the majority of failure due to safety and efficacy. Increasingly available high dimensional information on targets, drug molecules and indications provides an opportunity for ML methods to integrate multiple data modalities and better predict clinically promising drug targets.
arxiv  

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

New variants of ABCA12 in harlequin ichthyosis baby

Journal of Pediatric and Neonatal Individualized Medicine, 2018
Harlequin ichthyosis (HI) is an extremely rare genetic skin disorder and the most severe form of a group of disorders, which includes lamellar ichthyosis and congenital ichthyosiform erythroderma.
Sara Peixoto, Joana Amaral, Dolores Faria, Cristina Resende, Gabriela Mimoso, Lina Ramos   +5 more
doaj   +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
openaire   +5 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

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