List of works by Timothy Barrett

: an EU Register for Alstrom, Bardet Biedl and other rare syndromes

scientific article published on 16 November 2012

A cluster-randomised controlled trial to assess the effectiveness and cost-effectiveness of a childhood obesity prevention programme delivered through schools, targeting 6-7 year old children: the WAVES study protocol ⬇️

scientific article published on 13 May 2015

A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism

scientific article published on 01 July 2014

A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects.

scientific article published in November 2014

A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia

scientific article

A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism.

scientific article published in March 2014

A truncating TPO mutation (Y55X) in patients with hypothyroidism and total iodide organification defect

scientific article published on 20 October 2014

Accuracy of peak flow meters. Readings vary between measurements.

scientific article published on April 1994

Acquired non-type 1 diabetes in childhood: subtypes, diagnosis, and management.

scientific article

Adiposity and response to an obesity prevention intervention in Pakistani and Bangladeshi primary school boys and girls: a secondary analysis using the BEACHeS feasibility study

scientific article published on 9 February 2016

Adolescents' views and experiences of treatments for Type 2 diabetes: a qualitative study

scientific article published in October 2014

Alcohol abuse and the emergency department

scientific article published on 01 April 1994

Ambulatory blood pressure measurements are related to albumin excretion and are predictive for risk of microalbuminuria in young people with type 1 diabetes

scientific article

An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis

scientific article published on 01 September 2014

Asian MODY: are we missing an important diagnosis?

article

Assessment of childhood obesity in secondary care: OSCA consensus statement.

scientific article published on June 2012

Association Studies of Genetic Variation in the WFS1 Gene and Type 2 Diabetes in U.K. Populations

article

Autoantibody testing in children with newly diagnosed type 1 diabetes mellitus.

scientific article

Autophagy in Rare (NonLysosomal) Neurodegenerative Diseases

scientific article published on 19 February 2020

Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis.

scientific article

Braking the accelerator hypothesis?

scientific article published on 10 December 2003

Cellular modelling of Alström syndrome in human primary dermal fibroblasts and derived cells.

scientific article published on 16 November 2012

Characteristic phenotype in congenital nephrotic syndrome

scientific article published on 01 March 1995

Childhood diabetes presenting with hyperosmolar dehydration but without ketoacidosis: a report of three cases.

scientific article published in May 2005

Classifying insulin regimens--difficulties and proposal for comprehensive new definitions

scientific article published on 10 April 2015

Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1

scientific article

Clinical characteristics and management of cranial diabetes insipidus in infants.

scientific article

Clinical utility gene card for: Alström Syndrome - update 2013.

scientific article published on 24 April 2013

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population.

scientific article published on 7 April 2006

Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing.

scientific article published on 28 June 2013

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes

scientific article published on 01 February 2002

Continuing rise of Type 2 diabetes incidence in children and young people in the UK.

scientific article published on 20 February 2018

DIDMOAD syndrome; further studies and muscle biochemistry

scientific article published on 01 January 1995

Defining renal phenotype in Alström syndrome

article

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

scientific article published on July 2010

Development of an assessment tool for screening children for glucose intolerance by oral glucose tolerance test.

scientific article published in January 2004

Differential diagnosis of type 1 diabetes: which genetic syndromes need to be considered?

scientific article published on October 2007

Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome.

scientific article published on 11 June 2015

Dysregulation of autophagy as a common mechanism in lysosomal storage diseases.

scientific article published on 12 December 2017

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

scientific article (publication date: August 2000)

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

scientific article

Effectiveness of a childhood obesity prevention programme delivered through schools, targeting 6 and 7 year olds: cluster randomised controlled trial (WAVES study). ⬇️

scientific article published on 7 February 2018

Empowering youth sport environments: Implications for daily moderate-to-vigorous physical activity and adiposity

scientific article published on 31 March 2016

Environmental trigger for anti-neutrophil cytoplasmic antibodies?

scientific article published on 01 August 1993

Ethnic differences in insulin resistance and body composition in United Kingdom adolescents

scientific article published on 19 April 2005

Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model.

scientific article published on 5 October 2017

Factors determining patient choice of device for GH therapy.

scientific article published on 16 December 2005

Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine.

scientific article published on 13 March 2007

Gastrointestinal symptoms in children with type 1 diabetes screened for celiac disease

scientific article published on 10 August 2009

General Medical Council: GMC's annual report gives a poor impression.

scientific article

Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.

scientific article

Hearing impairment in genotyped Wolfram syndrome patients

scientific article published in July 2008

Heritability of body mass index in pre-adolescence, young adulthood and late adulthood

scientific article published on 18 March 2012

High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease

scientific article

Home urine C-peptide creatinine ratio (UCPCR) testing can identify type 2 and MODY in pediatric diabetes.

scientific article published on 4 January 2013

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

scientific article published on 18 October 2018

Human Induced Pluripotent Stem Cell Models of Neurodegenerative Disorders for Studying the Biomedical Implications of Autophagy

scientific article published on 07 February 2020

IGFALS gene dosage effects on serum IGF-I and glucose metabolism, body composition, bone growth in length and width, and the pharmacokinetics of recombinant human IGF-I administration

scientific article published on 13 January 2014

ISPAD Clinical Practice Consensus Guidelines 2014. Type 2 diabetes in the child and adolescent

scientific article published on 01 September 2014

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.

scientific article published on 11 July 2012

Inter-participant variability in daily physical activity and sedentary time among male youth sport footballers: independent associations with indicators of adiposity and cardiorespiratory fitness.

scientific article published on 21 May 2015

Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.

scientific article published in October 1996

Liraglutide in Children and Adolescents with Type 2 Diabetes

scientific article published on 28 April 2019

Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping

scientific article

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene

scientific article

Maternal but not paternal association of ambulatory blood pressure with albumin excretion in young offspring with type 1 diabetes

scientific article

Metabolic outcomes in young children with type 1 diabetes differ between treatment centers: the Hvidoere Study in Young Children 2009.

scientific article published on 10 September 2012

Metformin in obese children and adolescents: the MOCA trial.

scientific article

Microstructural abnormalities in white and gray matter in obese adolescents with and without type 2 diabetes

scientific article published on 5 July 2017

Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes.

scientific article

Monocarboxylate transporter 8 in neuronal cell growth.

scientific article

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

scientific article published on 21 April 2017

Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.

scientific article

Muscle biochemistry in thiamin-responsive anaemia

scientific article published on 01 July 1997

Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.

scientific article published in February 2005

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

scientific article (publication date: July 1999)

Natural history of retinopathy in children and young people with type 1 diabetes.

scientific article published on 22 April 2016

Near-fatal aspiration of a child's dummy: design fault or deliberate injury?

scientific article

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

scientific article

Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism.

scientific article

One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism.

scientific article

Optic atrophy in Wolfram (DIDMOAD) syndrome

scientific article published on 01 January 1997

Optimising physical activity engagement during youth sport: a self-determination theory approach.

scientific article published on 12 February 2016

Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.

scientific article published on 10 February 2016

Permanent neonatal diabetes in an Asian infant.

scientific article

Potentially lethal thiamine deficiency complicating parenteral nutrition in children

scientific article published on 01 April 1993

Premature adrenarche: novel lessons from early onset androgen excess

scientific article published on 26 May 2011

Prevalence of abnormal lipid profiles and the relationship with the development of microalbuminuria in adolescents with type 1 diabetes

scientific article published on 26 January 2009

Preventing childhood obesity, phase II feasibility study focusing on South Asians: BEACHeS. ⬇️

scientific article published on 10 April 2014

Quantitative MRI brain in congenital adrenal hyperplasia: in vivo assessment of the cognitive and structural impact of steroid hormones.

scientific article published on 20 November 2017

Rapid progression of type 2 diabetes and related complications in children and young people-A literature review

scientific article published on 10 January 2020

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity

scientific article published on 01 October 1998

Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts

scientific article

Relationship between Parental Feeding Practices and Neural Responses to Food Cues in Adolescents.

scientific article published in August 2016

Rigid intramedullary nail fixation of femoral fractures in adolescents: what evidence is available?

scientific article

Rising incidence of type 2 diabetes in children in the U.K.

scientific article published on 26 January 2007

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome

scientific article published on 22 September 2016

Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression

scientific article published on 30 September 2014

Sartorial eloquence: does it exist in the paediatrician-patient relationship?

scientific article published on December 1994

Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress

scientific article

Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.

scientific article published on 22 March 2016

Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.

scientific article published on 23 May 2006

Targets and teamwork: Understanding differences in pediatric diabetes centers treatment outcomes.

scientific article published on 20 November 2017

The Contribution of Youth Sport Football to Weekend Physical Activity for Males Aged 9 to 16 Years: Variability Related to Age and Playing Position.

scientific article published on 10 November 2014

The West Midlands ActiVe lifestyle and healthy Eating in School children (WAVES) study: a cluster randomised controlled trial testing the clinical effectiveness and cost-effectiveness of a multifaceted obesity prevention intervention programme targe

scientific article published in February 2018

The changing face and implications of childhood obesity.

scientific article

The characterisation of the human Wolfram syndrome gene promoter demonstrating regulation by Sp1 and Sp3 transcription factors

scientific article published on 21 July 2006

The emergence of type 2 diabetes in childhood.

scientific article published on January 2004

The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families

scientific article published on 01 January 2000

Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families

scientific article

Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.

scientific article published on 6 May 2013

Treatment adherence and BMI reduction are key predictors of HbA1c 1 year after diagnosis of childhood type 2 diabetes in the United Kingdom

scientific article published on 11 October 2018

Type 2 diabetes mellitus in UK children--an emerging problem.

scientific article published in December 2000

Use of a questionnaire to obtain an alcohol history from those attending an inner city accident and emergency department.

scientific article

Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability

scientific article

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

scientific article

Wolfram (DIDMOAD) syndrome.

scientific article published on October 1997

Wolfram syndrome.

scientific article

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