نتایج جستجو برای: barakat syndrome
تعداد نتایج: 622030 فیلتر نتایج به سال:
Hypoparathyroidism, deafness and renal dysplasia (HDR; OMIM 146255) syndrome is a rare disease which is first defined by Barakat in 1977 (1). It is characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia, inherited dominantly and found to be related with GATA3 gene mutations. This gene is located on 10 p 15 and is essential in embryonic development of the parathyroid gla...
Erratum to: Study protocol: differential effects of diet and physical activity based interventions in pregnancy on maternal and fetal outcomes: individual patient data (IPD) meta-analysis and health economic evaluation Anneloes E. Ruifrok, Ewelina Rogozinska, Mireille N. M. van Poppel, Girish Rayanagoudar, Sally Kerry, Christianne J. M. de Groot, SeonAe Yeo, Emma Molyneaux, Ruben Barakat Carbal...
This study compared two measures of depression in a population with schizophrenia. Inpatients (n = 112) with schizophrenia, were assessed on the Hamilton (HDRS), and Calgary (CDSS) depression scales and the Positive and Negative Syndrome Scale (PANSS). Eighty-nine were reassessed 3 months later. A principal components factor analysis was applied to each depression scale. The relationship betwee...
Key words Disease name and synonyms Definition/diagnostic criteria Epidemiology Clinical description Etiology Diagnostic methods Differential diagnosis Genetic counseling Antenatal diagnosis Management including treatment Prognosis Unresolved questions References Abstract The syndrome of Hypoparathyroidism, sensorineural deafness and renal disease (HDR syndrome) is an inherited condition. Patie...
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