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Le cancer de la prostate est une maladie grandement affectée par le style de vie, particulièrement la diète, et il est plus fréquent aux États-Unis et dans les pays européens comparativement à l'Asie de sud et de l'est. Parmi les nombreuses causes et facteurs de risques connus, la nutrition ... more
Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting Journal of Investigative Dermatology 133, 1444 (June 2013). doi:10.1038/jid.2013.20 Authors: Jouni Uitto, Andras Váradi, Lionel Bercovitch, Patrick ... more
Whole-genome sequencing in health care European Journal of Human Genetics 21, 580 (June 2013). doi:10.1038/ejhg.2013.46 Authors: Carla G van El, Martina C Cornel, Pascal Borry, Ros J Hastings, Florence Fellmann, Shirley V Hodgson, Heidi C Howard, Anne Cambon-Thomsen, ... more
Clinical Snippets Journal of Investigative Dermatology 133, 1441 (June 2013). doi:10.1038/jid.2013.157 more
fosB-Null Mice Display Impaired Adult Hippocampal Neurogenesis and Spontaneous Epilepsy with Depressive Behavior Neuropsychopharmacology 38, 1375 (June 2013). doi:10.1038/npp.2013.56 Authors: Noriko Yutsudo, Takashi Kamada, Kosuke Kajitani, Hiroko Nomaru, Atsuhisa Ka ... more
Whole-genome sequencing in health care European Journal of Human Genetics 21, 580 (June 2013). doi:10.1038/ejhg.2013.46 Authors: Carla G van El, Martina C Cornel, Pascal Borry, Ros J Hastings, Florence Fellmann, Shirley V Hodgson, Heidi C Howard, Anne Cambon-Thomsen, ... more
David Cox, a counsellor of geneticists European Journal of Human Genetics 21, 579 (June 2013). doi:10.1038/ejhg.2013.70 Author: GertJan B van Ommen more
High myopia, highly prevalent in the Chinese population, is a leading cause of visual impairment worldwide. Genetic factors play a critical role in the development of this visual disorder. Genome-wide association studies in recent years have revealed several chromosomal regions that contri ... more
DJ-1 was first identified as an oncogene. More recently, mutations in its gene have been found causative for autosomal recessive familial Parkinson disease. Numerous studies support the DJ-1 role in the protection against oxidative stress and maintenance of mitochondria structure; however, ... more
Parkinson's disease (PD) is associated with loss of dopaminergic signalling, and affects not just movement, but also vision. As both mammalian and fly visual systems contain dopaminergic neurons, we investigated the effect of LRRK2 mutations (the most common cause of inherited PD) on Droso ... more
ABSTRACT Cell‐free fetal DNA‐based noninvasive prenatal testing (NIPT) could significantly change the paradigm of prenatal testing and screening. Intellectual property (IP) and commercialization promise to be important components of the emerging debate about clinical implementation of t ... more
ABSTRACT The American College of Obstetricians and Gynecologists currently recommends that all pregnant women be offered screening for chromosomal abnormalities, regardless of maternal age. Traditional screening tests have detection rates ranging from 85% to 90% and false‐positive rates ... more
ABSTRACT Objective To compare screening performance for Down syndrome (DS) of the absolute risk (AR) method to the first‐trimester combined test (FCT) at different maternal ages. Methods Retrospective analysis of 32,448 FCT. AR was defined as final risk divided by maternal age ... more
ABSTRACT Objective As the sensitivity and specificity of noninvasive prenatal testing (NIPT) that uses cell‐free fetal DNA in maternal serum to identify Down syndrome in utero improves, NIPT could be considered a diagnostic test thus avoiding the complications of chorionic villus samp ... more
ABSTRACT Objective To determine the principal factors contributing to the cost of avoiding a birth with Down syndrome, using cell free (cf)DNA to replace conventional screening. Methods A range of unit costs were assigned to each item in the screening process. Detection rates w ... more
Inside Lab Invest Laboratory Investigation 93, 500 (May 2013). doi:10.1038/labinvest.2013.58 more
Inside Lab Invest Laboratory Investigation 93, 376 (April 2013). doi:10.1038/labinvest.2013.49 more
Methods for defining distinct bioenergetic profiles in platelets, lymphocytes, monocytes, and neutrophils, and the oxidative burst from human blood Laboratory Investigation advance online publication, March 25 2013. doi:10.1038/labinvest.2013.53 Authors: Balu K Chacko, Phili ... more
Inside Lab Invest Laboratory Investigation 93, 266 (March 2013). doi:10.1038/labinvest.2013.11 more
Hydroxylases as therapeutic targets in inflammatory bowel disease Laboratory Investigation advance online publication, February 18 2013. doi:10.1038/labinvest.2013.9 Authors: Eoin P Cummins, Glen A Doherty & Cormac T Taylor more
fosB-Null Mice Display Impaired Adult Hippocampal Neurogenesis and Spontaneous Epilepsy with Depressive Behavior Neuropsychopharmacology 38, 1375 (June 2013). doi:10.1038/npp.2013.56 Authors: Noriko Yutsudo, Takashi Kamada, Kosuke Kajitani, Hiroko Nomaru, Atsuhisa Ka ... more
GLYX-13, a NMDA Receptor Glycine-Site Functional Partial Agonist, Induces Antidepressant-Like Effects Without ketamine-like Side Effects Neuropsychopharmacology 38, 1374 (June 2013). doi:10.1038/npp.2013.42 Authors: Jeffrey Burgdorf, Xiao-lei Zhang, Katherine L Nicho ... more
Publication date: Available online 15 May 2013 Source:European Journal of Pharmaceutical Sciences Author(s): Krisztina Herédi-Szabó , Johan E. Palm , Tommy B. Andersson , Ákos Pál , Dóra Méhn , Erzsébet Beéry , Katalin Tauber Jakab , Márton Jani , Peter Krajcsi Accurate deter ... more
Publication date: Available online 14 May 2013 Source:European Journal of Pharmaceutical Sciences Author(s): Tamás Vigh , Tímea Horváthová , Attila Balogh , Péter Lajos Sóti , Gábor Drávavölgyi , Zsombor Kristóf Nagy , György Marosi Fast-release nano- and microfibres of lipophi ... more
Publication date: Available online 13 May 2013 Source:European Journal of Pharmaceutical Sciences Author(s): Tuan-Mazlelaa Tuan-Mahmood , Maelíosa T.C. McCrudden , Barbara M. Torrisi , Emma McAlister , Martin J. Garland , Thakur Raghu Raj Singh , Ryan F. Donnelly The formidable ... more
Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting Journal of Investigative Dermatology 133, 1444 (June 2013). doi:10.1038/jid.2013.20 Authors: Jouni Uitto, Andras Váradi, Lionel Bercovitch, Patrick ... more
Clinical Snippets Journal of Investigative Dermatology 133, 1441 (June 2013). doi:10.1038/jid.2013.157 more
JID VisualDx Quiz: June 2013 Journal of Investigative Dermatology 133, e5 (June 2013). doi:10.1038/jid.2013.174 Authors: Sadegh Amini & Robert S Kirsner more
BJD Editor's Choice Journal of Investigative Dermatology 133, 1442 (June 2013). doi:10.1038/jid.2013.158 more
Genome-Wide Epigenetics Journal of Investigative Dermatology 133, e9 (June 2013). doi:10.1038/jid.2013.173 Authors: Brian C Capell & Shelley L Berger more
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