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Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics

Rickman, Olivia J.; Voutsina, Nikol; Baple, Emma L.; Crosby, Andrew H. (Elsevier Science, 2020-10-16)

The raw datasets of oxysterol quantifications from whole cell and mitochondrial fractions of THP-1 monocytes and macrophages, neuronal-like SH-SH5Y cells and human peripheral blood mononuclear cells are presented. Oxysterols ...
Day case laparoscopic cholecystectomy: Safety and feasibility in obese patients.

Gregori, M.; Miccini, M.; Biacchi, D.; deSchoutheete, Jean-Charles; Bonomo, Luca; Manzelli, Antonio (Elsevier, 2017-12-09)

Day-case laparoscopic cholecystectomy (DCLC) is not universally adopted and its use is limited to patients selected by non-standardized criteria. Since laparoscopic cholecystectomy is considered technically more difficult ...
De novo missense variants in FBXO11 alter its protein expression and subcellular localization

Gregor, A.; Meerbrei, T.; Gerstner, T.; Toutain, A.; Lynch, S. A.; Stals, K.; Maxton, C.; Lemke, J. R.; Bernat, J. A.; Bombei, H. M.; Foulds, N.; Hunt, D.; Kuechler, A.; Beygo, J.; Stöbe, P.; Bouman, A.; Palomares-Bralo, M.; Santos-Simarro, F.; Garcia-Minaur, S.; Pacio-Miguez, M.; Popp, B.; Vasileiou, G.; Hebebrand, M.; Reis, A.; Schuhmann, S.; Krumbiegel, M.; Brown, N. J.; Sparber, P.; Melikyan, L.; Bessonova, L.; Cherevatova, T.; Sharkov, A.; Shcherbakova, N.; Dabir, T.; Kini, U.; Schwaibold, E. M. C.; Haack, T. B.; Bertoli, M.; Hoffjan, S.; Falb, R.; Shinawi, M.; Sticht, H.; Zweier, C. (Oxford University Press, 2021-09-09)

Recently, we and others identified de novo FBXO11 variants as causative for a variable neurodevelopmental disorder (NDD). We now assembled clinical and mutational information on 23 additional individuals. The phenotypic ...
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder

Janssen, B. D. E.; van den Boogaard, M. H.; Lichtenbelt, K.; Seaby, E. G.; Stals, K.; Ellard, S.; Newbury-Ecob, R.; Dixit, A.; Roht, L.; Pajusalu, S.; Õunap, K.; Firth, H. V.; Buckley, M.; Wilson, M.; Roscioli, T.; Tidwell, T.; Mao, R.; Ennis, S.; Holwerda, S. J.; van Gassen, K.; van Jaarsveld, R. H. (Wiley, 2022-07-29)

TATA-binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been implicated ...
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Dias, K. R.; Carlston, C. M.; Blok, L. E. R.; De Hayr, L.; Nawaz, U.; Evans, C. A.; Bayrak-Toydemir, P.; Htun, S.; Zhu, Y.; Ma, A.; Lynch, S. A.; Moorwood, C.; Stals, K.; Ellard, S.; Bainbridge, M. N.; Friedman, J.; Pappas, J. G.; Rabin, R.; Nowak, C. B.; Douglas, J.; Wilson, T. E.; Guillen Sacoto, M. J.; Mullegama, S. V.; Palculict, T. B.; Kirk, E. P.; Pinner, J. R.; Edwards, M.; Montanari, F.; Graziano, C.; Pippucci, T.; Dingmann, B.; Glass, I.; Mefford, H. C.; Shimoji, T.; Suzuki, T.; Yamakawa, K.; Streff, H.; Schaaf, C. P.; Slavotinek, A. M.; Voineagu, I.; Carey, J. C.; Buckley, M. F.; Schenck, A.; Harvey, R. J.; Roscioli, T. (Nature, 2022-09-01)

PURPOSE: ZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response ...
Decline in Cognition from Mid-Life Improves Specificity of Mini-Mental State Examination: Diagnostic Test Accuracy in Caerphilly Prospective Study (CaPs)

Creavin, S.; Fish, M.; Bayer, A.; Gallacher, J.; Ben-Shlomo, Y. (IOS Press, 2022-08-18)

BACKGROUND: The merit of using baseline cognitive assessments in mid-life to help interpret cross-sectional cognitive tests scores in later life is uncertain. OBJECTIVE: Evaluate how accuracy for diagnosing dementia is ...
Decreased tibial nerve movement in patients with failed back surgery syndrome and persistent leg pain

Shum, G; Hutton, Mike; Chan, Daniel; Chauhan, Rohan (Springer, 2019-07)

Purpose To measure and compare the total and normalised tibial nerve movements during forward bending in patients with and without failed back surgery syndrome (FBSS) and persistent leg pain following anatomically successful ...
Deep and Frequent Phenotyping study protocol: an observational study in prodromal Alzheimer's disease

Ballard, Clive (BMJ, 2019-03-23)

Introduction: Recent failures of potential novel therapeutics for Alzheimer's disease (AD) have prompted a drive towards clinical studies in prodromal or preclinical states. However, carrying out clinical trials in early ...
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.

Çamtosun, E.; Flanagan, Sarah; Ellard, Sian; Şıklar, Z.; Hussain, K.; Kocaay, P.; Berberoğlu, M. (Galenos, 2015-06)

Unlike other congenital fatty acid oxidation defects, short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterised by hypoglycemia with hyperinsulinism in the neonatal or infancy periods. The long-term and ...
Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

Rankin, Julia (Wiley, 2019-04)

Whole exome sequencing has established IQSEC2 as a neurodevelopmental disability gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, ...
Defining a New Prognostic index for Stage I Non-seminomatous Germ Cell Tumors using CXCL12 Expression and Proportion of Embyronal Carcinoma

Gilbert, D. C.; Al-Saadi, R.; Thway, K.; Chandler, Ian; Berney, D. M.; Gabe, R.; Stenning, S.; Sweet, J.; Huddart, R.; Shipley, J. M. (Clinical Cancer Research, 2015-10-09)

PURPOSE: Up to 50% of patients diagnosed with stage I non-seminomatous germ cell tumors (NSGCT) harbor occult metastases. Patients are managed by surveillance with chemotherapy at relapse or adjuvant treatment up-front. ...
Defining a Severe Asthma Super-Responder: Findings from a Delphi Process

Upham, J. W.; Le Lievre, C.; Jackson, D. J.; Masoli, M.; Wechsler, M. E.; Price, D. B. (Elsevier, 2021-07-13)

BACKGROUND: Clinicians are increasingly recognizing severe asthma patients in whom biologics and other add-on therapies lead to dramatic improvement. Currently, there is no agreed-upon super-responder (SR) definition. ...
Defining drug response for stratified medicine.

Lonergan, M.; Senn, S. J.; McNamee, C.; Daly, A. K.; Sutton, R.; Hattersley, Andrew T.; Pearson, E.; Pirmohamed, M. (Elsevier, 2017-01)

The premise for stratified medicine is that drug efficacy, drug safety, or both, vary between groups of patients, and biomarkers can be used to facilitate more targeted prescribing, with the aim of improving the benefit:risk ...
Defining left ventricular remodeling following acute ST-segment elevation myocardial infarction using cardiovascular magnetic resonance.

Bulluck, H.; Go, Y.Y.; Crimi, G.; Ludman, Andrew J.; Rosmini, S.; Abdel-Gadir, A.; Bhuva, A. N.; Treibel, T. A.; Fontana, M.; Pica, S.; Raineri, C.; Sirker, A.; Herrey, A. S.; Manisty, C.; Groves, A.; Moon, J. C.; Hausenloy, D. J. (BioMed Central, 2017-03-13)

The assessment of post-myocardial infarction (MI) left ventricular (LV) remodeling by cardiovascular magnetic resonance (CMR) currently uses criteria defined by echocardiography. Our aim was to provide CMR criteria for ...
Defining the genetic aetiology of monogenic diabetes can improve treatment.

Gloyn, A. L.; Ellard, Sian (Taylor & Francis, 2006-09)

A molecular genetic diagnosis is now possible for > 80% of patients with monogenic diabetes. This not only provides accurate information regarding inheritance and prognosis, but can inform treatment decisions and improve ...
Defining the role of common variation in the genomic and biological architecture of adult human height

Wood, A. R.; Hattersley, Andrew T.; Frayling, Timothy M. (Nature, 2014-11)

Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in ...
Defining the Role of SGLT2 Inhibitors in Primary Care: Time to Think Differently

Evans, M.; Morgan, A. R.; Bain, S. C.; Davies, S.; Dashora, U.; Sinha, S.; Seidu, S.; Patel, D. C.; Beba, H.; Strain, W. D. (Springer, 2022-05-01)

Disease burden in people with diabetes is mainly driven by long-term complications such as cardiovascular disease, heart failure and chronic kidney disease. This is a consequence of the interconnection between the ...
Definitions for loss of domain: an International Delphi Consensus of Expert Surgeons

Smart, Neil J. (Springer, 2020-04)

No standardized written or volumetric definition exists for 'loss of domain' (LOD). This limits the utility of LOD as a morphological descriptor and as a predictor of peri- and postoperative outcomes. Consequently, our aim ...
Delayed absorbable synthetic plug (GORE BIO-A ) for the treatment of fistula in ano: a systematic review

Narang, Sunil K.; Jones, C.; Alam, Nasra N; Daniels, Ian R.; Smart, Neil J. (Wiley, 2016-01-04)

AIM: Recent advances in the treatment of fistula-in-ano have focused on surgical techniques that preserve sphincter integrity. Plugs that obliterate the lumen of the fistula track have been proposed as one such method and ...
Delineating the expanding phenotype associated with SCAPER gene mutation

Fasham, James; Baple, Emma L.; Crosby, Andrew H. (Wiley, 2019-08)

Browsing by Title

Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics ﻿

Day case laparoscopic cholecystectomy: Safety and feasibility in obese patients. ﻿

De novo missense variants in FBXO11 alter its protein expression and subcellular localization ﻿

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder ﻿

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations ﻿

Decline in Cognition from Mid-Life Improves Specificity of Mini-Mental State Examination: Diagnostic Test Accuracy in Caerphilly Prospective Study (CaPs) ﻿

Decreased tibial nerve movement in patients with failed back surgery syndrome and persistent leg pain ﻿

Deep and Frequent Phenotyping study protocol: an observational study in prodromal Alzheimer's disease ﻿

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. ﻿

Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype ﻿

Defining a New Prognostic index for Stage I Non-seminomatous Germ Cell Tumors using CXCL12 Expression and Proportion of Embyronal Carcinoma ﻿

Defining a Severe Asthma Super-Responder: Findings from a Delphi Process ﻿

Defining drug response for stratified medicine. ﻿

Defining left ventricular remodeling following acute ST-segment elevation myocardial infarction using cardiovascular magnetic resonance. ﻿

Defining the genetic aetiology of monogenic diabetes can improve treatment. ﻿

Defining the role of common variation in the genomic and biological architecture of adult human height ﻿

Defining the Role of SGLT2 Inhibitors in Primary Care: Time to Think Differently ﻿

Definitions for loss of domain: an International Delphi Consensus of Expert Surgeons ﻿

Delayed absorbable synthetic plug (GORE BIO-A ) for the treatment of fistula in ano: a systematic review ﻿

Delineating the expanding phenotype associated with SCAPER gene mutation ﻿

Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics

Day case laparoscopic cholecystectomy: Safety and feasibility in obese patients.

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Decline in Cognition from Mid-Life Improves Specificity of Mini-Mental State Examination: Diagnostic Test Accuracy in Caerphilly Prospective Study (CaPs)

Decreased tibial nerve movement in patients with failed back surgery syndrome and persistent leg pain

Deep and Frequent Phenotyping study protocol: an observational study in prodromal Alzheimer's disease

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.

Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

Defining a New Prognostic index for Stage I Non-seminomatous Germ Cell Tumors using CXCL12 Expression and Proportion of Embyronal Carcinoma

Defining a Severe Asthma Super-Responder: Findings from a Delphi Process

Defining drug response for stratified medicine.

Defining left ventricular remodeling following acute ST-segment elevation myocardial infarction using cardiovascular magnetic resonance.

Defining the genetic aetiology of monogenic diabetes can improve treatment.

Defining the role of common variation in the genomic and biological architecture of adult human height

Defining the Role of SGLT2 Inhibitors in Primary Care: Time to Think Differently

Definitions for loss of domain: an International Delphi Consensus of Expert Surgeons

Delayed absorbable synthetic plug (GORE BIO-A ) for the treatment of fistula in ano: a systematic review

Delineating the expanding phenotype associated with SCAPER gene mutation