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A 10 year experience of the management of severe hypocalcaemia associated with thymus transplantation in a United Kingdom tertiary centre

artículo científico publicado en 2018

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia

artículo científico publicado en 2006

A novel method for the direct measurement of urinary conjugated metabolites of alpha-tocopherol and its use in diabetes

artículo científico publicado en 2010

A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population

artículo científico publicado en 2008

Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.

artículo científico publicado en 2009

An increase in the prevalence of type 1 and 2 diabetes in children and adolescents: results from prescription data from a UK general practice database

artículo científico publicado en 2009

An update on the biochemical diagnosis of congenital ACTH insufficiency

artículo científico publicado en 2005

Are There Parental Socialization Effects on the Sex-Typed Behavior of Individuals with Congenital Adrenal Hyperplasia?

artículo científico publicado el 19 de julio de 2012

Association of the (CA)n repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency

artículo científico publicado en 2012

Attitudes to psychological groups in a paediatric and adolescent diabetes service--implications for service delivery

artículo científico publicado en 2008

Blood glucose in multiparous women influences offspring birth size but not size at 2 years of age.

artículo científico publicado en 2013

Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report

artículo científico publicado en 2003

Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

artículo científico publicado en 2013

Classic congenital adrenal hyperplasia and puberty

artículo científico publicado en 2004

Congenital hypopituitarism: clinical, molecular and neuroradiological correlates

artículo científico publicado en 2009

Cyclical variation in HbA1c values during the year: clinical and research implications.

artículo científico publicado en 2013

Cystic fibrosis-related diabetes in childhood

artículo científico publicado en 2010

Deconvolution analysis of 24-h serum cortisol profiles informs the amount and distribution of hydrocortisone replacement therapy

article

Effectiveness of a structured educational intervention using psychological delivery methods in children and adolescents with poorly controlled type 1 diabetes: a cluster-randomized controlled trial of the CASCADE intervention

artículo científico publicado en 2016

Emotional and behavioral adjustment in 4 to 11-year-old boys and girls with classic congenital adrenal hyperplasia and unaffected siblings

scientific article published on 05 July 2018

Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency

artículo científico publicado en 2009

Factors predicting ante- and postnatal growth

artículo científico publicado en 2008

Gender, smoking during pregnancy and gestational age influence cord leptin concentrations in newborn infants.

artículo científico publicado en 2008

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK

artículo científico publicado en 2021

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

artículo científico publicado en 2011

Growth hormone treatment and stroke: should we be concerned? A case for cohort studies

artículo científico publicado en 2014

Impact of deprivation, ethnicity, and insulin pump therapy on developmental trajectories of diabetes control in COB type 1 diabetes

artículo científico publicado en 2016

Increased Cross-Gender Identification Independent of Gender Role Behavior in Girls with Congenital Adrenal Hyperplasia: Results from a Standardized Assessment of 4- to 11-Year-Old Children.

artículo científico publicado en 2014

Increased aggression and activity level in 3- to 11-year-old girls with congenital adrenal hyperplasia (CAH).

artículo científico publicado en 2007

Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiency

artículo científico publicado en 2007

Intrauterine growth and its relationship to size and shape at birth

artículo científico publicado en 2002

Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children

artículo científico publicado en 2003

Keeping the pressure on mineralocorticoid replacement in congenital adrenal hyperplasia

artículo científico publicado en 2015

Letter to the Editor: "Evaluating the Low-Dose ACTH Stimulation Test in Children: Ideal Times for Cortisol Measurement"

scientific article published on 01 March 2020

Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre.

artículo científico publicado en 2016

Management of altered hydrocortisone pharmacokinetics in a boy with congenital adrenal hyperplasia using a continuous subcutaneous hydrocortisone infusion.

artículo científico publicado en 2009

Maternal hyperinsulinism and glycaemic status in the first trimester of pregnancy are associated with the development of pregnancy-induced hypertension and gestational diabetes.

artículo científico publicado en 2013

Maternal smoking during pregnancy and fetal growth. Effects in preterm infants of gestational age less than 33 weeks.

artículo científico publicado en 2010

Maximising engagement, motivation and long term change in a Structured Intensive Education Programme in Diabetes for children, young people and their families: Child and Adolescent Structured Competencies Approach to Diabetes Education (CASCADE).

artículo científico publicado en 2009

Methodology for quantifying fasting glucose homeostasis in type 2 diabetes: observed variability and lability

artículo científico publicado en 2013

Mineralocorticoid deficiency and treatment in congenital adrenal hyperplasia

artículo científico publicado en 2010

Motor development in individuals with congenital adrenal hyperplasia: strength, targeting, and fine motor skill

artículo científico publicado en 2008

Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum.

artículo científico publicado en 2009

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).

artículo científico publicado en 2005

Neonatal and late-onset diabetes mellitus caused by failure of pancreatic development: report of 4 more cases and a review of the literature

artículo científico publicado en 2008

No relationship between prenatal androgen exposure and autistic traits: convergent evidence from studies of children with congenital adrenal hyperplasia and of amniotic testosterone concentrations in typically developing children.

artículo científico publicado en 2016

Normal reference range for mean tissue glucose and glycemic variability derived from continuous glucose monitoring for subjects without diabetes in different ethnic groups

artículo científico publicado en 2011

Oral hydrocortisone administration in children with classic 21-hydroxylase deficiency leads to more synchronous joint GH and cortisol secretion.

artículo científico publicado en 2002

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

artículo científico publicado en 2018

Prenatal androgen exposure alters girls' responses to information indicating gender-appropriate behaviour.

artículo científico publicado en 2016

Prenatal androgen exposure and children's aggressive behavior and activity level

artículo científico publicado en 2017

Prenatal androgen exposure and children's gender-typed behavior and toy and playmate preferences

scientific article published on 09 November 2020

Prenatal hormones and childhood sex segregation: playmate and play style preferences in girls with congenital adrenal hyperplasia

artículo científico publicado en 2011

Prenatal hormones and postnatal socialization by parents as determinants of male-typical toy play in girls with congenital adrenal hyperplasia

artículo científico publicado en 2005

Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.

artículo científico publicado en 2015

Pseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases.

artículo científico

Reduced short term memory in congenital adrenal hyperplasia (CAH) and its relationship to spatial and quantitative performance

artículo científico publicado en 2015

Regarding the consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology

artículo científico publicado en 2003

Role of gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests in differentiating patients with hypogonadotropic hypogonadism from those with constitutional delay of growth and puberty.

artículo científico publicado en 2008

Screening for congenital hypothyroidism: comparison of borderline screening cut-off points and the effect on the number of children treated with levothyroxine

artículo científico publicado en 2013

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

artículo científico publicado en 2007

Sexual dimorphism in the growth hormone and insulin-like growth factor axis at birth

artículo científico publicado en 2003

Structured, intensive education maximising engagement, motivation and long-term change for children and young people with diabetes: a cluster randomised controlled trial with integral process and economic evaluation - the CASCADE study

artículo científico publicado en 2014

The Identification of New Biomarkers for Identifying and Monitoring Kidney Disease and Their Translation into a Rapid Mass Spectrometry-Based Test: Evidence of Presymptomatic Kidney Disease in Pediatric Fabry and Type-I Diabetic Patients

artículo científico publicado en 2013

The Incidence and Clinical Features of Dual Thyroid Ectopia in Congenital Hypothyroidism

artículo científico publicado en 2016

The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight

artículo científico publicado en 2012

The influence of cigarette smoking on antenatal growth, birth size, and the insulin-like growth factor axis

artículo científico publicado en 2005

The regulation of growth in glycogen storage disease type 1.

artículo científico publicado en 2003

The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model

artículo científico publicado en 2005

Thyroid Surgery in Children: Clinical Outcomes

artículo científico publicado en 2014

Treating papillary and follicular thyroid cancer in children and young people: Single UK-center experience between 2003 and 2018

scientific article published on 04 August 2020

Urinary conjugated α-tocopheronolactone--a biomarker of oxidative stress in children with type 1 diabetes

artículo científico publicado en 2012

Validation of continuous glucose monitoring in children and adolescents with cystic fibrosis: a prospective cohort study.

artículo científico publicado en 2009

Variation in absorption and half-life of hydrocortisone influence plasma cortisol concentrations

artículo científico publicado en 2014

Working memory performance is reduced in children with congenital adrenal hyperplasia

artículo científico publicado en 2014

Would Cortisol Measurements Be a Better Gauge of Hydrocortisone Replacement Therapy? Congenital Adrenal Hyperplasia as an Exemplar

scientific article published on 13 October 2020