Genetic and Kidney Cyst Diseases

The classification working group of the International Society of Urological Pathology consensus conference on renal neoplasia was in charge of making recommendations regarding additions and changes to the current World Health Organization Classification of Renal Tumors (2004). Members of the group performed an exhaust…

• DİLEK BAYDAR

Intraflagellar transport (IFT) proteins are essential for cilia assembly and have recently been associated with a number of developmental processes, such as left-right axis specification and limb and neural tube patterning. Genetic studies indicate that IFT proteins are required for Sonic hedgehog (Shh) signaling down…

• YEŞİM AYDIN SON

More than 2% of adults harbor a pancreatic cyst, a subset of which progresses to invasive lesions with lethal consequences. To assess the genomic landscapes of neoplastic cysts of the pancreas, we determined the exomic sequences of DNA from the neoplastic epithelium of eight surgically resected cysts of each of the ma…

• NAZMİ VOLKAN ADSAY

Six existing minimally invasive techniques for the treatment of primary and secondary malignant hepatic tumors--radio-frequency ablation, microwave ablation, laser ablation, cryoablation, ethanol ablation, and chemoembolization--are reviewed and debated by noted authorities from six institutions from around the world.…

• ÖKKEŞ İBRAHİM KARAHAN

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• NAZMİ VOLKAN ADSAY

OBJECTIVES: Mutations in each of the NPHS1, NPHS2, WT1, and LAMB2 genes have been implicated in nephrotic syndrome, manifesting in the first year of life. The relative frequency of causative mutations in these genes in children with nephrotic syndrome manifesting in the first year of life is unknown. Therefore, we ana…

• FATİH ÖZALTIN

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• HÜLYA KAYSERİLİ KARABEY

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• HÜLYA KAYSERİLİ KARABEY

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• BEYHAN TÜYSÜZ

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We studied monocyte function in a case of malakoplakia in an attempt to characterize the immune defect in this condition. Our patient's intracellular cyclic-GMP levels were abnormally low (mean +/- S.D. of 0.17 +/- 0.05 pmol per 10(7) malakoplakia cells, versus 0.79 +/- 0.12 in normals) p less than 0.001). After phago…

BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain malformation. JS demonstrates substantial phenotypic variability and genetic heterogeneity. Thi…

• VİLDAN GÖKNUR HALİLOĞLU