about
Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.Treatment of peripubertal children after renal transplantation (RTX) with recombinant human growth hormone: auxological data and effects on insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 (IGFBP-3) during 24 months.IGF-I resistance and Turner's syndrome.Growth data in large series of 587 children and adolescents with type 1 diabetes mellitus.Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity.Tumor risk in disorders of sex development.Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Results of a multicenter study.The muscle-bone interaction in Turner syndrome.Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell functionHepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature reviewRituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populationsTreated Autoimmune Thyroid Disease Is Associated with a Decreased Quality of Life among Young Persons with Type 1 Diabetes.Impaired Growth during Childhood in Patients with Primary Ciliary Dyskinesia.Treatment options for children with monogenic forms of obesity.Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening.45,X/46,X,psu dic(Y) gonadal dysgenesis: influence of the two cell lines on the clinical phenotype, including gonadal histology.A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion.Novel glucokinase gene mutation in the first Macedonian family tested for MODY.Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents.Gastrointestinal Autoimmunity Associated With Loss of Central Tolerance to Enteric α-Defensins.High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young.Chronic Mild Hyperglycemia in GCK-MODY Patients Does Not Increase Carotid Intima-Media Thickness.Two cases of diabetic ketoacidosis in HNF1A-MODY linked to severe dehydration: is it time to change the diagnostic criteria for MODY?[Normal course of autoimmune thyroid disease in diabetic children]Cerebral oedema in enuretic children during low-dose desmopressin treatment: a preventable complication.Sex hormone-binding globulin as a marker of the effect of hormonal treatment in Turner's syndrome.Discordant growth pattern and ovarian function in monozygotic twins with 45,X/46,XX mosaicism.Absence of breast-feeding is associated with the risk of type 1 diabetes: a case-control study in a population with rapidly increasing incidence.Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology.Maturity-onset diabetes of the young with end-stage nephropathy: a new indication for simultaneous pancreas and kidney transplantation?Longitudinal growth in HIV-negative boys with haemophilia.Continued growth hormone (GH) treatment after final height is necessary to complete somatic development in childhood-onset GH-deficient patients.Boys with haemophilia have low trabecular bone mineral density and sarcopenia, but normal bone strength at the radius.Prepubertal girls with Turner syndrome and children with isolated SHOX deficiency have similar bone geometry at the radius.Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.The contrast sensitivity test in early detection of ocular changes in the relation to the type I diabetes mellitus compensation in children, teenagers, and young adults.
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P50
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