Lista de obras -

(18) Fluoro-dihydroxy phenylalanine positron emission tomography/computed tomography scanning for congenital hyperinsulinism of infancy.

artículo científico publicado en 2015

A novel INS mutation in a family with MODY: variable insulin secretion and putative mechanisms.

artículo científico publicado en 2018

Aberrant cervical thymus mimicking a cervical mass

artículo científico publicado en 2004

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.

artículo científico publicado en 2015

Bisphosphonates for osteoporosis in people with cystic fibrosis

artículo científico publicado en 1996

Bisphosphonates for osteoporosis in people with cystic fibrosis

artículo científico publicado en 2009

Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family

artículo científico publicado en 2018

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

scientific article published on 14 November 2018

Considering statins for cholesterol-reduction in children if lifestyle and diet changes do not improve their health: a review of the risks and benefits ⬇️

artículo científico publicado el 20 de diciembre de 2010

Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life

artículo científico publicado en 2018

Dermatological complications of continuous subcutaneous insulin infusion in children and adolescents.

artículo científico publicado en 2008

Diabetes in motion in the year of the child. Meeting Highlights - 33rd Annual ISPAD Meeting, September 26-29, 2007, Berlin, Germany - 5th Symposium on Diabetic Angiopathy in Children, September 30, 2007, Berlin, Germany.

artículo científico publicado en 2008

Differentiated thyroid carcinoma associated with histological features of Hashimoto's thyroiditis.

artículo científico publicado en 2009

Early adolescent smoking and a web of personal and social disadvantage.

artículo científico publicado en 2003

Functional characterization of multiple DICER1 mutations in an adolescent.

artículo científico publicado en 2015

Graves' disease--acceleration of linear growth.

artículo científico publicado en 2009

Hypophosphataemic rickets: The long and short of it

artículo científico publicado en 2020

Images in pediatric endocrinology: vitamin D deficiency rickets and other nutritional deficiencies in a 12-month-old infant

artículo científico publicado en 2011

Indexes of insulin resistance and secretion in obese children and adolescents: a validation study.

artículo científico publicado en 2004

Insulin regimens for newly diagnosed children with type 1 diabetes mellitus in Australia and New Zealand: A survey of current practice.

artículo científico publicado en 2017

Necrotizing fasciitis in adolescents with poorly controlled type 1 diabetes mellitus: report of two cases.

artículo científico publicado en 2007

Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1).

artículo científico publicado en 2009

Oral glucose tolerance test in children and adolescents: positives and pitfalls.

artículo científico publicado en 2004

Post-transplant lymphoproliferative disorder: no relationship to recombinant human growth hormone use in Australian and New Zealand pediatric kidney transplant recipients

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Probiotics for preventing gestational diabetes

artículo científico publicado en 2014

Relation of reduced preclinical left ventricular diastolic function and cardiac remodeling in overweight youth to insulin resistance and inflammation.

artículo científico publicado en 2015

Response to Comment on Johnson et al. Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Qual

scientific article published on 01 May 2019

Reversible cardiomyopathy in paediatric Addison's disease--a cautionary tale.

artículo científico publicado en 2003

Serum vitamin D levels are lower in Australian children and adolescents with type 1 diabetes than in children without diabetes.

artículo científico publicado en 2012

Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia

artículo científico publicado en 2008

The feasibility of a home-based moderate-intensity physical activity intervention in obese children and adolescents.

artículo científico publicado en 2008

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism

artículo científico publicado en 2018

Lista de obras de

(18) Fluoro-dihydroxy phenylalanine positron emission tomography/computed tomography scanning for congenital hyperinsulinism of infancy.

A novel INS mutation in a family with MODY: variable insulin secretion and putative mechanisms.

Aberrant cervical thymus mimicking a cervical mass

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.

Bisphosphonates for osteoporosis in people with cystic fibrosis

Bisphosphonates for osteoporosis in people with cystic fibrosis

Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

Considering statins for cholesterol-reduction in children if lifestyle and diet changes do not improve their health: a review of the risks and benefits ⬇️

Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life

Dermatological complications of continuous subcutaneous insulin infusion in children and adolescents.

Diabetes in motion in the year of the child. Meeting Highlights - 33rd Annual ISPAD Meeting, September 26-29, 2007, Berlin, Germany - 5th Symposium on Diabetic Angiopathy in Children, September 30, 2007, Berlin, Germany.

Differentiated thyroid carcinoma associated with histological features of Hashimoto's thyroiditis.

Early adolescent smoking and a web of personal and social disadvantage.

Functional characterization of multiple DICER1 mutations in an adolescent.

Graves' disease--acceleration of linear growth.

Hypophosphataemic rickets: The long and short of it

Images in pediatric endocrinology: vitamin D deficiency rickets and other nutritional deficiencies in a 12-month-old infant

Indexes of insulin resistance and secretion in obese children and adolescents: a validation study.

Insulin regimens for newly diagnosed children with type 1 diabetes mellitus in Australia and New Zealand: A survey of current practice.

Necrotizing fasciitis in adolescents with poorly controlled type 1 diabetes mellitus: report of two cases.

Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1).

Oral glucose tolerance test in children and adolescents: positives and pitfalls.

Post-transplant lymphoproliferative disorder: no relationship to recombinant human growth hormone use in Australian and New Zealand pediatric kidney transplant recipients

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

Probiotics for preventing gestational diabetes

Relation of reduced preclinical left ventricular diastolic function and cardiac remodeling in overweight youth to insulin resistance and inflammation.

Response to Comment on Johnson et al. Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Qual

Reversible cardiomyopathy in paediatric Addison's disease--a cautionary tale.

Serum vitamin D levels are lower in Australian children and adolescents with type 1 diabetes than in children without diabetes.

Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia

The feasibility of a home-based moderate-intensity physical activity intervention in obese children and adolescents.

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism