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Toplam kayıt 63, 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 ...
Genetic Screening In Adolescents With Steroid-Resistant Nephrotic Syndrome
(Elsevier Science Inc, 2013)
Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent ...
Genetic Basis Of Cystinosis In Turkish Patients: A Single-Center Experience
(Springer, 2012)
We report the molecular findings for the CTNS gene in 12 Turkish cystinosis patients aged 7-29 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. Cystinosis was diagnosed at age 1 month ...
Kaposi Sarcoma In A Paediatric Renal Transplant Recipient
(Oxford Univ Press United Kingdom, 1996)
Chronic Renal Disease In Children Aged 5-18 Years: A Population-Based Survey In Turkey, The Credit-C Study
(Oxford Univ Press, 2012)
Background. Data on the epidemiology of chronic kidney disease (CKD), which is a serious health problem and refers to a condition related to irreversible kidney damage that further progress to end-stage renal disease in ...
Circulating Supar In Two Cohorts Of Primary Fsgs
(Amer Soc Nephrology, 2012)
Overexpression of soluble urokinase receptor (suPAR) causes pathology in animal models similar to primary FSGS, and one recent study demonstrated elevated levels of serum suPAR in patients with the disease. Here, we analyzed ...
Dgke Variants Cause A Glomerular Microangiopathy That Mimics Membranoproliferative Gn
(Amer Soc Nephrology, 2013)
Renal microangiopathies and membranoproliferative GN (MPGN) can manifest similar clinical presentations and histology, suggesting the possibility of a common underlying mechanism in some cases. Here, we performed homozygosity ...
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 ...