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Öğe Clinical, molecular, radiological investigations in patients with SURF1 mutations and muscle biopsy findings(Pergamon-Elsevier Science Ltd, 2016) Kose, M.; Kagnici, M.; Canda, E.; Ucar, S. Kalkan; Diniz, G.; Unalp, A.; Yilmaz, U.; Eraslan, C.; Ceylaner, S.; Taylor, R.; Coker, M.Öğe Concomitant alpha and gamma sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha sarcoglycan gene(Pergamon-Elsevier Science Ltd, 2014) Diniz, G.; Yildirim, H. T.; Gokben, S.; Serdaroglu, G.; Hazan, F.; Yararbas, K.; Tukun, A.Öğe A regional panorama of sarcoglycanopathies(Pergamon-Elsevier Science Ltd, 2014) Diniz, G.; Hazan, F.; Yildirim, H. T.; Unalp, A.; Polat, M.; Serdaroglu, G.; Ture, S.; Akhan, G.; Tukun, A.Öğe SARCOLEMMAL DEFICIENCY OF SARCOGLYCAN COMPLEX IN AN 18-MONTH-OLD TURKISH BOY WITH A LARGE DELETION IN THE BETA SARCOGLYCAN GENE(Macedonian Acad Sciences Arts, 2015) Diniz, G.; Tekgul, H.; Hazan, F.; Yararbas, K.; Tukun, A.Limb-girdle muscular dystrophy type 2E (LG-MD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in a boy with beta sarcoglycanopathy are presented. An 18-month-old boy had a very high serum creatinine phosphokinase (CPK) level that was accidentally determined. The results of molecular analyses for the dystrophin gene was found to be normal. He underwent a muscle biopsy which showed dystrophic features. Immunohistochemistry showed that there was a total loss of sarcolemmal sarcoglycan complex. DNA analysis revealed a large homozygous deletion in the SCGB gene. During 4 years of follow-up, there was no evidence to predict a severe clinical course except the muscle enzyme elevation and myopathic electromyography (EMG) finding. The presented milder phenotype of LGMD-2E with a large deletion in the SGCB gene provided additional support for the clinical heterogeneity and pathogenic complexity of the disease.Öğe Sarcolemmal deficiency of sarcoglycan complex in an eighteen months old Turkish boy with a huge deletion in the beta sarcoglycan gene(Pergamon-Elsevier Science Ltd, 2014) Diniz, G.; Tekgul, H.; Hazan, F.; Yararbas, K.; Tukun, A.Öğe TREATMENT OUTCOME OF CHILDREN WITH HEPATOBLASTOMA(Wiley-Blackwell, 2014) Demirag, B.; Ince, D.; Celik, A.; Erbay, A.; Hosgor, M.; Diniz, G.; Oymak, Y.; Yaman, Y.; Ozek, G.; Vergin, C.
