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International Society for Pediatric and Adolescent Diabetes
International Society for Pediatric and Adolescent Diabetes 24th Annual Meeting, Zurich, Switzerland, September 14–17, 1998 Horm Res 1998;50:107–140 Abstracts Dr. Michael S. Harbuz Division ofExpand
A frameshift mutation in MC4R associated with dominantly inherited human obesity
A cohort of severely obese children in whom no evidence for a recognized clinical syndrome or a structural hypothalamic cause for their obesity has been found is identified, and one subject who was heterozygous for a 4-bp deletion at codon 211 is likely to result in a non-functional receptor. Expand
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
The prevalence of pathogenic LEPR mutations in a cohort of subjects with severe, early-onset obesity was 3%. Expand
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria
The Silver-Russell syndrome is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature, although the range of phenotypic variance is unknown. Expand
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.
Assessed in vitro using a previously described sensitive signaling assay in cells stably expressing GPR54, the C223R variant was found to exhibit profoundly impaired signaling, whereas the R297L variant showed a mild reduction in ligand-stimulated activity across the ligand dose range. Expand
Management of childhood craniopharyngioma: can the morbidity of radical surgery be predicted?
Large tumor size, young age, and severe hydrocephalus were predictors of tumor recurrence, whereas complete tumor resection and radiotherapy given electively after subtotal excision were less likely to be associated with recurrent disease. Expand
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.
We have previously shown that familial septo-optic dysplasia (SOD), a syndromic form of congenital hypopituitarism involving optic nerve hypoplasia and agenesis of midline brain structures, isExpand
Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization*
It is hypothesized that a systematic clinical evaluation of a large patient sample might provide new insights into the genetics of this rare disorder. Expand
Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.
The patient showed markedly increased food intake at an ad libitum test meal, confirming that hyperphagia makes a major contribution to the obesity seen in this syndrome, and extends the clinical and molecular spectrum of human congenital PC1/3 deficiency. Expand
Growth and endocrine sequelae of craniopharyngioma.
The combination of ADH insufficiency and an impaired sense of thirst following aggressive surgery and severe hypothalamic injury remains one of the most complex management problems. Expand