Search Results - "Žordania, R."
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Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients
Published in Advances in medical sciences (01-12-2013)“…The present study was initiated to establish the etiological causes of early onset hearing loss (HL) among Estonian children between 2000–2009. The study group…”
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Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control
Published in Molecular genetics and metabolism (01-07-2011)“…The main aim of our study was to retrospectively evaluate long-term complications and measure urinary galactose and galactitol excretion in classical…”
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Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development
Published in American journal of medical genetics. Part A (01-11-2004)“…It is well documented that distal 9p monosomy can be associated with XY sex reversal. Recently, the possibility of DMRT1 and/or DMRT2 (the genes for doublesex…”
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A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children
Published in Molecular syndromology (01-09-2012)“…Mitochondrial disorders are a heterogeneous group of disorders affecting energy production of the body. Different consensus diagnostic criteria for…”
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Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency
Published in Molecular syndromology (01-09-2011)“…Background: Females with a total or partial deletion of the short arm of the X chromosome have variable features of Turner syndrome, but mental retardation…”
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Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia
Published in JIMD Reports - Case and Research Reports, 2011/2 (01-01-2012)“…The aim of our study was to evaluate the prevalence of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the general Estonian population and…”
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Serum lipid and apolipoprotein profiles in newborns and six-year-old children: The Tallinn Young Family Study
Published in Scandinavian journal of clinical and laboratory investigation (2005)“…Seventy children aged 6 years (34 boys, 36 girls) were studied for cardiovascular risk factors. Among the children 40 had also been investigated at birth. The…”
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Neonatal screening for congenital hypothyroidism in Estonia
Published in Journal of medical screening (01-01-1998)“…Screening for congenital hypothyroidism was carried out by measuring thyroid stimulating hormone (TSH) on dried blood spots (mean + 2SD cut off value 12…”
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The live-birth prevalence of mucopolysaccharidoses in Estonia
Published in Genetic testing and molecular biomarkers (01-08-2012)“…Previous studies on the prevalence of mucopolysaccharidoses (MPS) in different populations have shown considerable variations. There are, however, few data…”
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Parents' satisfaction with medical and social assistance provided to children with Down syndrome: experience in Estonia
Published in Community genetics (2003)“…Parents of children with mental or physical disabilities have been assumed to live more stressful lives than other parents, and people with Down syndrome (DS)…”
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