36 Result(s)

Article

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart def...

T. Smol, F. Petit, A. Piton, B. Keren, D. Sanlaville, A. Afenjar, S. Baker… in neurogenetics (2018)

Article

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability

The nonsense-mediated mRNA decay (NMD) pathway was originally discovered by virtue of its ability to rapidly degrade aberrant mRNAs with premature termination codons. More recently, it was shown that NMD also ...

L S Nguyen, L Jolly, C Shoubridge, W K Chan, L Huang, F Laumonnier… in Molecular Psychiatry (2012)

Article

Eruption of kimberlite magmas: physical volcanology, geomorphology and age of the youngest kimberlitic volcanoes known on earth (the Upper Pleistocene/Holocene Igwisi Hills volcanoes, Tanzania)

The Igwisi Hills volcanoes (IHV), Tanzania, are unique and important in preserving extra-crater lavas and pyroclastic edifices. They provide critical insights into the eruptive behaviour of kimberlite magmas t...

Richard J. Brown, S. Manya, I. Buisman, G. Fontana, M. Field… in Bulletin of Volcanology (2012)

Article

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

I Voineagu, L Huang, K Winden, M Lazaro, E Haan, J Nelson… in Molecular Psychiatry (2012)

Article

Geology of the BK9 kimberlite (Damtshaa, Botswana): implications for the formation of dark volcaniclastic kimberlite

The BK9 kimberlite consists of three overlap** pipes. It contains two dark varieties of massive volcaniclastic kimberlite, informally termed dark volcaniclastic kimberlite (DVK). DVK(ns) is present in the no...

B. Buse, R. S. J. Sparks, M. Field, J. C. Schumacher, K. Chisi… in Bulletin of Volcanology (2011)

Article

Dynamics of Coupled Cell Networks: Synchrony, Heteroclinic Cycles and Inflation

We consider the dynamics of small networks of coupled cells. We usually assume asymmetric inputs and no global or local symmetries in the network and consider equivalence of networks in this setting; that is, ...

M. Aguiar, P. Ashwin, A. Dias, M. Field in Journal of Nonlinear Science (2011)

Article

Challenges and techniques to effectively characterize the efficiency of broad-energy germanium detectors at energies less than 45 keV

With the now common availability of large-volume thin-window germanium detectors, it is possible to routinely measure very low energy (<45 keV) gamma and X-rays while maintaining good sensitivity for high-ener...

W. F. Mueller, F. Bronson, M. Field… in Journal of Radioanalytical and Nuclear Che… (2009)

Article

Geology of a complex kimberlite pipe (K2 pipe, Venetia Mine, South Africa): insights into conduit processes during explosive ultrabasic eruptions

K2 is a steep-sided kimberlite pipe with a complex internal geology. Geological map**, logging of drillcore and petrographic studies indicate that it comprises layered breccias and pyroclastic rocks of vario...

R. J. Brown, M. Tait, M. Field, R. S. J. Sparks in Bulletin of Volcanology (2009)

Article

Demise of reef-flat carbonate accumulation with late Holocene sea-level fall: evidence from Molokai, Hawaii

Twelve cores from the protected reef-flat of Molokai revealed that carbonate sediment accumulation, ranging from 3 mm year⁻¹ to less than 1 mm year⁻¹, ended on average 2,500 years ago. Modern sediment is present ...

M. S. Engels, C. H. Fletcher, M. Field, C. L. Conger, C. Bochicchio in Coral Reefs (2008)

Article

Submucosal spreading bowel cancer

M. Field, U. Zanetto, M. Davies, S. Bhalerao in International Journal of Colorectal Disease (2008)

Article

Disease association of two distinct interleukin-18 promoter polymorphisms in Caucasian rheumatoid arthritis patients

Interleukin (IL)-18 is an important mediator of innate and adaptive immunity. We searched for an association of IL-18 promoter single-nucleotide polymorphisms (SNP) with rheumatoid arthritis (RA) in Caucasians...

J A Gracie, N Koyama, J Murdoch, M Field, F McGarry, A Crilly… in Genes & Immunity (2005)

Article

Improved detector response characterization method in ISOCS and LabSOCS

The In-Situ Object Calibration Software (ISOCS) and the Laboratory Sourceless Calibration Software (LabSOCS) developed and patented by Canberra Industries have found widespread use in the gamma-spectrometry co...

R. Venkataraman, F. Bronson, V. Atrashkevich… in Journal of Radioanalytical and Nuclear Che… (2005)

Article

Application of High Throughput Methods to the Development of Materials For Non-Magnetic Storage

High throughput, thin film synthesis methods have been used to make libraries of diverse metallic and metal-chalcogenide compositions. These libraries have been subject to a variety of screening protocols, inc...

C. Eric Ramberg, Y. Wang, Q. Fan, E. McDermott, J. Wang… in MRS Online Proceedings Library (2003)