Results 81 to 90 of about 1,393 (229)

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Fluorogenic Coupled Assays Reveal Catalytic Properties, Inhibition Constants and Cellular Location of Mucin‐Active Carbohydrate Sulfatases

Angewandte Chemie, EarlyView.
We report plate‐based coupled assays to rapidly and quantitatively determine the activity and selectivity of mucin‐active carbohydrate sulfatases. This fluorogenic assay further enables inhibitor identification and allows determination of (sub‐)cellular location. ABSTRACT Sulfated glycans play a central role in human health and influence cell signaling,
Charles W. E. Tomlinson, Madouc D. Bergers, David N. Bolam, Ana S. Luis, Alan Cartmell, Zachary Armstrong   +5 more
wiley   +2 more sources

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga, Jacey L. Anderberg, Ana M. Ramirez‐Diaz, Andrea Horvath Marques, Catherine E. Rast, Daniel Bustamante, Deborah Jonker, Johanna Valencia‐Echeverry, Joseph Kyebuzibwa, Josselyn S. Muñoz, Kristien van der Walt, Mauricio Castaño Ramirez, Olivia Wootton, Renee M. Frederick, Rocky E. Stroud II, Ruben Gur, Sang Jin Rhee, Shaili C. Jha, Stella Gichuru, Susan Service, Victor I. Reus, Akena Dickens, Carlos Lopez‐Jaramillo, Carrie E. Bearden, Dan J. Stein, Ezra S. Susser, James J. Crowley, Jonathan Flint, Kenneth S. Kendler, Lukoye Atwoli, Michele T. Pato, Nelson B. Freimer, Roel A. Ophoff, Yong Min Ahn, Loes Olde Loohuis, Eric A. Storch, Bizu Gelaye   +36 more
wiley   +1 more source

Ultra‐Thin and Highly Insulating Aromatic Monolayers by N‐Heterocyclic Carbenes

Angewandte Chemie, EarlyView.
By using N‐heterocyclic carbenes extremally insulating and at the same time as thin as 0.3 nm molecular films are formed. The charge transport calculations indicate absence of destructive quantum interference effect which was so far the only way to suppress conductivity in aromatic molecules.
Mateusz Wróbel, Raka Ahmed, William Bro‐Jørgensen, Krzysztof Kozieł, Christian A. Nijhuis, Gemma C. Solomon, Piotr Cyganik   +6 more
wiley   +2 more sources

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source

'Rosa' versus 'rossa': the acquisition of Italian geminates by native speakers of Dutch

, 2014
This study examines to what extent native speakers of Dutch, who are beginning learners of Italian, have acquired the perception and production of the Italian contrast between singleton and geminate consonants.
Simon, Ellen, Crocco, Claudia, De Clercq, Bastien   +2 more
core  

When does inconsistency hurt? On the relation between phonological-consistency effects and the reliability of sublexical units

, 2000
Contains fulltext : 104458.pdf (Publisher’s version ) (Open Access)Phonological consistency describes to what extent a letter string in one word is pronounced equally in other words.
Eric Maris, Maris, E.G.G., Martensen, H.E., Dijkstra, A.F.J., Ton Dijkstra, Heike Martensen   +5 more
core   +1 more source

Light and Dark Cycles Control the Structural Evolution of Photoresponsive Supramolecular Systems

Angewandte Chemie, EarlyView.
Here, we report a photoswitchable synthetic peptide that, under light energy cycles, exhibits supramolecular polymorphism coupled to darkness‐driven structural self‐selection. We demonstrate that light sustains a transient assembled state in the form of helical nanoribbons, hindering the system from undergoing a transition to the disassembled state ...
Alejandro Méndez‐Ardoy, Nicolas Cissé, Adrian Sanchez‐Fernandez, Patricia Fulias‐Guzmán, Marc C. A. Stuart, Tibor Kudernac, Javier Montenegro   +6 more
wiley   +2 more sources

Family Dispute Resolution in Australia: The Under‐Servicing of Indigenous, Migrant and Refugee Families Experiencing Family Violence

Australian Journal of Social Issues, EarlyView.
ABSTRACT Improving access to legal services for Indigenous, migrant and refugee women is critical to addressing family violence. In this context, Family Dispute Resolution (FDR) has long been discussed as a solution for separating families. This paper presents key findings of a research evaluation of an Australian Government $8.37 million pilot project
Siobhan McDonnell, Alyson Wright
wiley   +1 more source

Thermostable Bioluminescent Intercalating Dyes for Real‐Time, Integrated Nucleic Acid Amplification and Detection

Angewandte Chemie, EarlyView.
We present a bioluminescent diagnostic platform that integrates DNA amplification and detection in a single step. The engineering of thermostable luciferase‐intercalating dye conjugates and controlled release of caged luciferin substrates enable real‐time, detection of attomolar concentrations of viral DNA within 30 min.
Yosta de Stigter, Harmen J. van der Veer, Sterre de Lignie, Robbert J. de Haas, Renko de Vries, Joost P. H. Schoeber, Anne J. M. Loonen, Adriaan J. C. van den Brule, Maarten Merkx   +8 more
wiley   +2 more sources