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LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during… Expand
Prevention and treatment of infant and childhood vitamin D deficiency in Australia and New Zealand: a consensus statement
- C. Munns, M. Zacharin, +11 authors C. Cowell
- The Medical journal of Australia
- 1 September 2006
Vitamin D deficiency has re‐emerged as a significant paediatric health issue, with complications including hypocalcaemic seizures, rickets, limb pain and fracture. A major risk factor for infants is… Expand
Indexes of insulin resistance and secretion in obese children and adolescents: a validation study.
OBJECTIVE To assess the concurrent validity of fasting indexes of insulin sensitivity and secretion in obese prepubertal (Tanner stage 1) children and pubertal (Tanner stages 2-5) adolescents using… Expand
Vitamin A levels in patients with CF are influenced by the inflammatory response.
- R. Greer, H. Buntain, +6 authors S. Bell
- Journal of cystic fibrosis : official journal of…
- 1 August 2004
BACKGROUND Serum vitamin A, normally depressed in inflammatory conditions, is frequently low in people with CF. Vitamin A is important in respiratory epithelial regeneration and repair. We… Expand
Abnormal regulation of insulin-like growth factor binding proteins in adolescents with insulin-dependent diabetes.
We have measured fasting 0800 h insulin-like growth factor binding proteins (IGFBP)-1 and IGFBP-3, in 52 diabetic adolescents and 74 puberty-matched control subjects with short stature and normal… Expand
Expression of SHOX in human fetal and childhood growth plate.
- C. Munns, H. Haase, +5 authors J. Batch
- Biology, Medicine
- The Journal of clinical endocrinology and…
- 1 August 2004
Abnormalities in the growth plate may lead to short stature and skeletal deformity including Leri Weil syndrome, which has been shown to result from deletions or mutations in the SHOX gene, a… Expand
Turner syndrome in childhood and adolescence.
- J. Batch
- Best practice & research. Clinical endocrinology…
- 1 September 2002
Turner syndrome (TS) is the most common chromosomal disorder causing short stature in females. The short stature is caused at least in part by haploinsufficiency of the short stature homeobox (SHOX)… Expand
3. Management and prevention of obesity and its complications in children and adolescents
Obesity in children and adolescents has reached alarming levels — 20%–25% of children and adolescents are overweight or obese, and 4.9% of boys and 5.4% of girls are obese. Rates of obesity have… Expand
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood
- S. Flanagan, C. Munns, +8 authors I. Glass
- Medicine, Biology
- Journal of medical genetics
- 1 October 2002
In 1878, Madelung described a painful, disabling, and deforming abnormality of the forearm in which misalignment of the bones of the wrist and forearm resulted in a “spontaneous forward subluxation… Expand
Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate.
- C. Munns, I. Glass, +7 authors D. Vickers
- Hand surgery : an international journal devoted…
- 1 July 2001
Leri-Weill syndrome (LWS) is a dominant (pseudoautosomal) skeletal dysplasia with mesomelic short stature and bilateral Madelung deformity, due to dyschondrosteosis of the distal radius. It results… Expand