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Toplam kayıt 22, listelenen: 1-10
Characterization Of Large Rearrangements In Autosomal Dominant Polycystic Kidney Disease And The Pkd1/Tsc2 Contiguous Gene Syndrome
(Nature Publishing Group, 2008)
Large DNA rearrangements account for about 8% of disease mutations and are more common in duplicated genomic regions, where they are difficult to detect. Autosomal dominant polycystic kidney disease ( ADPKD) is caused by ...
Do Experimentally Induced Ipsilateral Testicular Torsion, Vas Deferens Obstruction, Intra-Abdominal Testis or Venous Obstruction Damage the Contralateral Testis Through a Common Mechanism?
(Blackwell Science Ltd, 2000)
Objective To evaluate if various conditions affecting the ipsilateral testis which also damage the contralateral testis share a common pathway for their effects. Materials and methods The study comprised five groups of 10 ...
Assessment of Cardiovascular Risk in Paediatric Peritoneal Dialysis Patients: A Turkish Pediatric Peritoneal Dialysis Study Group (Tupepd) Report
(Oxford Univ Press, 2009)
Methods. We aimed to clarify arteriosclerotic risk and to document possible relationships between cardiovascular risk factors and echocardiographic parameters in paediatric peritoneal dialysis (PD) patients. M-mode/Doppler/tissue ...
Wilms' Tumor In Children: An Overview
(Karger, 2008)
Wilms' tumor is the most frequently occurring renal tumor in children and is one of the most treatment-responsive tumors. A tumor-suppressor gene and other genetic abnormalities have been implicated in its etiology. In ...
Mutational Analysis Of The Xanthine Dehydrogenase Gene In A Turkish Family With Autosomal Recessive Classical Xanthinuria
(Oxford Univ Press, 2003)
Background. Classical xanthinuria is classified into two categories: type I, deficient only in xanthine dehydrogenase (XDH) activity; and type II, deficient in both XDH and aldehyde oxidase. Both types present mainly with ...
A Case of Kaposi's Sarcoma Following Treatment of Membranoproliferative Glomerulonephritis and a Review of the Literature
(Taylor & Francis Ltd, 2007)
Kaposi's sarcoma (KS) is an unusual tumor principally affecting the skin of the lower extremities. Although the association between KS and renal transplant has been well documented, there are a few KS cases in the literature ...
Peritonitis in Children Who Receive Long-Term Peritoneal Dialysis: A Prospective Evaluation of Therapeutic Guidelines
(Amer Soc Nephrology, 2007)
In children who are on chronic peritoneal dialysis, peritonitis is the primary complication compromising technique survival, and the optimal therapy of peritonitis remains uncertain. An Internet-based International Pediatric ...
Recessive Missense Mutations in Lamb2 Expand the Clinical Spectrum of Lamb2-Associated Disorders
(Elsevier Science Inc, 2006)
Congenital nephrotic syndrome is clinically and genetically heterogeneous. The majority of cases can be attributed to mutations in the genes NPHS1, NPHS2, and WT1. By homozygosity mapping in a consanguineous family with ...
Mutations In Plce1 Are A Major Cause Of Isolated Diffuse Mesangial Sclerosis (Idms)
(Oxford Univ Press, 2008)
Background and objectives. Diffuse mesangial sclerosis (DMS) is a histologically distinct variant of nephrotic syndrome (NS) that is characterized by early onset and by progression to end-stage kidney disease (ESKD). Besides ...