Lista de obras - Timothy Barrett - Dominio Público Uruguay

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

artículo científico publicado en 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 ⬇️

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Accuracy of peak flow meters. Readings vary between measurements.

artículo científico publicado en 1994

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

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Alcohol abuse and the emergency department

artículo científico publicado en 1994

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

artículo científico publicado en 2009

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.

artículo científico

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.

artículo científico publicado en 2004

Autophagy in Rare (NonLysosomal) Neurodegenerative Diseases

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Braking the accelerator hypothesis?

artículo científico publicado en 2003

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

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico

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

artículo científico publicado en 1999

Clinical characteristics and management of cranial diabetes insipidus in infants.

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Clinical utility gene card for: Alström syndrome ⬇️

artículo científico publicado el 27 de abril de 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico publicado en 2002

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

artículo científico publicado en 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).

artículo científico publicado en 2010

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2000

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Environmental trigger for anti-neutrophil cytoplasmic antibodies?

artículo científico publicado en 1993

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

Factors determining patient choice of device for GH therapy.

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 1993

Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.

artículo científico publicado en 2014

Hearing impairment in genotyped Wolfram syndrome patients

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 1997

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

Metformin in obese children and adolescents: the MOCA trial.

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes.

artículo científico publicado en 2001

Monocarboxylate transporter 8 in neuronal cell growth.

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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.

artículo científico publicado en 2005

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

artículo científico publicado en 1999

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

artículo científico publicado en 2016

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

artículo científico publicado en 1995

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

artículo científico publicado en 1995

Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism.

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Optic atrophy in Wolfram (DIDMOAD) syndrome

artículo científico publicado en 1997

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Permanent neonatal diabetes in an Asian infant.

artículo científico publicado en 2005

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 1998

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 1994

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

artículo científico publicado en 2008

Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.

artículo científico publicado en 2016

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

artículo científico publicado en 2006

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis ⬇️

artículo científico publicado el 1 de enero de 2012

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2018

The changing face and implications of childhood obesity.

artículo científico publicado en 2004

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.

artículo científico publicado en 2004

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

artículo científico publicado en 2000

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

artículo científico publicado en 2006

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

artículo científico publicado en 2013

Trajectories and predictors of developmental skills in healthy twins up to 24 months of age ⬇️

artículo científico publicado el 7 de agosto de 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2000

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

artículo científico publicado en 1989

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

Wolfram (DIDMOAD) syndrome.

artículo científico publicado en 1997

Wolfram syndrome.

artículo científico publicado en 2003

Lista de obras de Timothy Barrett

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

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 ⬇️

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

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

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

A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism

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

Accuracy of peak flow meters. Readings vary between measurements.

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

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

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

Alcohol abuse and the emergency department

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

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

Asian MODY: are we missing an important diagnosis?

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

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

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

Autophagy in Rare (NonLysosomal) Neurodegenerative Diseases

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

Braking the accelerator hypothesis?

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

Characteristic phenotype in congenital nephrotic syndrome

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

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

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

Clinical characteristics and management of cranial diabetes insipidus in infants.

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

Clinical utility gene card for: Alström syndrome ⬇️

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

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

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

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

DIDMOAD syndrome; further studies and muscle biochemistry

Defining renal phenotype in Alström syndrome

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

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

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

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

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

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

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

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

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

Environmental trigger for anti-neutrophil cytoplasmic antibodies?

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

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

Factors determining patient choice of device for GH therapy.

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

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

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

Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.

Hearing impairment in genotyped Wolfram syndrome patients

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

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

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

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

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

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

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

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

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

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

Liraglutide in Children and Adolescents with Type 2 Diabetes

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

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

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

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

Metformin in obese children and adolescents: the MOCA trial.

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

Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes.

Monocarboxylate transporter 8 in neuronal cell growth.

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

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

Muscle biochemistry in thiamin-responsive anaemia

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.

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

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

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