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Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet (1997) 3.51

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int (2006) 2.39

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet (2000) 2.38

Intravenous immunoglobulin treatment in children with Guillain-Barré syndrome. Eur J Paediatr Neurol (1997) 2.12

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet (2002) 2.11

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am J Hum Genet (2000) 1.78

Prevalence of juvenile chronic arthritis and familial Mediterranean fever in Turkey: a field study. J Rheumatol (1998) 1.65

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci U S A (1998) 1.52

Is there a heterozygote advantage for familial Mediterranean fever carriers against tuberculosis infections: speculations remain? Clin Exp Rheumatol (2002) 1.51

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Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet (2001) 1.46

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Chemical burn: a risk with outdated povidone iodine. Pediatr Dermatol (2007) 1.27

Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease. Ann Rheum Dis (2008) 1.22

Parietal lipoma associated with cortical dysplasia and abnormal vasculature: case report and review of the literature. AJNR Am J Neuroradiol (2000) 1.20

Polyarteritis nodosa in patients with Familial Mediterranean Fever (FMF): a concomitant disease or a feature of FMF? Semin Arthritis Rheum (2001) 1.17

Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever. Clin Exp Rheumatol (2003) 1.17

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Percutaneous renal hydatid cyst treatment: long-term results. Abdom Imaging (1998) 1.15

MEFV mutations in Behçet's disease. Hum Mutat (2000) 1.13

E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever. Ann Rheum Dis (2004) 1.12

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J Med Genet (2003) 1.11

Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis. Eur J Pediatr (1997) 1.11

The role of cytokines in Henoch Schonlein purpura. Scand J Rheumatol (1997) 1.10

A case of Pearson syndrome associated with multiple renal cysts. Pediatr Nephrol (1996) 1.10

Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis. Genes Immun (2004) 1.09

The Turkish version of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ). Clin Exp Rheumatol (2001) 1.06

Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. Am J Hum Genet (1999) 1.04

Familial Mediterranean fever and amyloidosis in children. Acta Paediatr (1993) 1.03

Renal involvement in polyarteritis nodosa: evaluation of 26 Turkish children. Pediatr Nephrol (2000) 1.00

Tumour necrosis factor alpha G-->A -238 and G-->A -308 polymorphisms in juvenile idiopathic arthritis. Rheumatology (Oxford) (2002) 0.99

Cranial MR findings in Wilson's disease. Acta Radiol (1997) 0.97

Spinal intradural hydatid cyst in a child. Br J Radiol (1991) 0.95

Spectrum of imaging findings in pediatric hydatid disease. AJR Am J Roentgenol (1997) 0.94

Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population. J Med Genet (1997) 0.94

Primary non-Hodgkin's lymphoma of the esophagus. Abdom Imaging (1997) 0.94

Interferon-gamma assays for the diagnosis of tuberculosis infection before using tumour necrosis factor-alpha blockers. Int J Tuberc Lung Dis (2007) 0.93

Treatment of a TIPS-biliary fistula by stent-graft in a 9-year-old boy. Cardiovasc Intervent Radiol (1999) 0.93

Are carriers for MEFV mutations "healthy"? Clin Exp Rheumatol (2006) 0.92

MRI of the facial nerve in idiopathic facial palsy. Eur Radiol (1996) 0.91

Association of nitric oxide production and apoptosis in a model of experimental nephropathy. Nephrol Dial Transplant (2001) 0.90

A multicentre study of abdominal aorta diameters in a Turkish population. J Int Med Res (2002) 0.88

Increased neutrophil apoptosis during attacks of familial Mediterranean fever. Clin Exp Rheumatol (2001) 0.88

Serum concentration and urinary excretion of beta 2-microglobulin and microalbuminuria in familial Mediterranean fever. Arch Dis Child (1994) 0.88

Aglossia-adactylia syndrome (special emphasis on the inheritance pattern). Clin Genet (1977) 0.87

Tuberculous pleural effusions: ultrasonic diagnosis. J Clin Ultrasound (1992) 0.87

Percutaneous treatment of abdominal hydatid cysts with hypertonic saline and alcohol. An experimental study in sheep. Invest Radiol (1993) 0.87

Results of pars plana vitrectomy in Behçet's disease. Ann Ophthalmol (1988) 0.86

Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. Kidney Int (1996) 0.86

Glutathione S-transferase M1 gene polymorphism in bladder cancer patients. a marker for invasive bladder cancer? Cancer Genet Cytogenet (2001) 0.86

Anatomy of the celiac trunk examined by CT imaging of 104 individuals. Morphologie (2003) 0.86

Endovascular treatment of an unusual arterioportal fistula caused by the rupture of a giant hepatic artery aneurysm into the superior mesenteric vein in Behçet disease. J Vasc Interv Radiol (2000) 0.86

Distal partial trisomy 1q: report of two cases and a review of the literature. Prenat Diagn (2007) 0.85

Triple immunosuppression with or without basiliximab in pediatric renal transplantation: acute rejection rates at one year. Transplant Proc (2003) 0.84

Urinary tumor necrosis factor levels in primary glomerulopathies. Nephron (1994) 0.83

Peritoneal inflammatory myofibroblastic pseudotumor metastatic to the liver: CT findings. Eur Radiol (2000) 0.83

Ghosal haemato-diaphyseal dysplasia: a new disorder. Eur J Pediatr (1993) 0.82

Myelodysplastic syndrome associated with monosomy 7 in a child with Bloom syndrome. Cancer Genet Cytogenet (2000) 0.82

Implications of certain genetic polymorphisms in scarring in vesicoureteric reflux: importance of ACE polymorphism. Am J Kidney Dis (1999) 0.82

45,XO/46,XYg dic mosaicism in a patient with ambiguous genitalia. Clin Genet (1976) 0.82

Cranial nerve involvement in childhood polyarteritis nodosa. Clin Neurol Neurosurg (1992) 0.81

Malignant biliary obstruction complicated by ascites: closure of the transhepatic tract with cyanoacrylate glue after placement of an endoprosthesis. Cardiovasc Intervent Radiol (1997) 0.81

Interleukin-1, -6, and -8 levels in juvenile chronic arthritis. Clin Rheumatol (1997) 0.81

Consanguinity in Turkey in 1988. Nufusbil Derg (1989) 0.81

Higher frequency of allele 2 of the interleukin-1 receptor antagonist gene in patients with juvenile idiopathic arthritis. Arthritis Rheum (2001) 0.81

Myelodysplastic features in juvenile rheumatoid arthritis. Am J Hematol (1997) 0.81

Percutaneous transcatheter ethanol sclerotherapy of postoperative pelvic lymphoceles. Cardiovasc Intervent Radiol (1992) 0.81

Delayed posttraumatic adrenal hematoma. Eur Radiol (2000) 0.81

Survey of factor V leiden and prothrombin gene mutations in systemic lupus erythematosus. Clin Rheumatol (2001) 0.80

Trisomy-8 syndrome. Humangenetik (1974) 0.80

677-->CT mutation on the methylenetetrahydrofolate reductase gene is not a risk factor for neural tube defects in Turkey. Arch Dis Child Fetal Neonatal Ed (1998) 0.80

Preoperative evaluation of hilar vessel anatomy with 3-D computerized tomography in living kidney donors. Transplant Proc (2008) 0.79

Henoch-Schönlein nephritis: a nationwide study. Nephron Clin Pract (2009) 0.79

Familial Mediterranean fever: a misnomer? Lancet (1994) 0.79

How does the presence of urologic problems change the outcome of kidney transplantation in the pediatric age group. Transplant Proc (2006) 0.79

Hematological evaluation of patients with various combinations of alpha-thalassemia. Am J Hematol (1980) 0.79

Pyrin Q148 mutation and familial Mediterranean fever. QJM (2002) 0.79

Bone mineral density in children with familial Mediterranean fever. Clin Rheumatol (2004) 0.79

[Consanguineous marriage in Turkey and its effects on infant mortality]. Nufusbil Derg (1987) 0.79

Expression of retinoblastoma and cyclin D1 in gastric carcinoma. Neoplasma (2009) 0.79

CYP1A1 gene polymorphism and risk of endometrial hyperplasia and endometrial carcinoma. Int J Gynecol Cancer (2006) 0.79

Tuberculous peritonitis: ultrasonic diagnosis. J Clin Ultrasound (1991) 0.79

C4-binding protein in sera of patients with systemic lupus erythematosus and mixed essential cryoglobulinemia. Complement (1984) 0.79

Saccular extracranial carotid artery aneurysm secondary to Behçet's disease. Case report. Clin Imaging (1993) 0.79

Renal transplantation in children with augmentation enterocystoplasty. Transplant Proc (2006) 0.79

Vascular endothelial growth factor in Henoch-Schonlein purpura. J Rheumatol (2001) 0.78

Semen variables and hormone profiles after kidney transplantation during adolescence. Transplant Proc (2006) 0.78

Anaemia in juvenile chronic arthritis. Clin Rheumatol (1996) 0.78

Brown tumour as a complication of secondary hyperparathyroidism in uraemia: a case report. Int Urol Nephrol (1994) 0.78

Hypertrophic pulmonary osteoarthropathy in a child with thymic carcinoma: an unusual presentation in childhood. Med Pediatr Oncol (1994) 0.78

Intraperitoneal involvement in rhabdomyosarcoma CT findings in a child. Turk J Pediatr (2001) 0.78

Ataxia and peripheral neuropathy: rare manifestations in Henoch-Schönlein purpura. Pediatr Nephrol (2001) 0.78

Thermolabile methylenetetrahydrofolate reductase enzyme genotype is frequent in type 2 diabetic patients with normal fasting homocysteine levels. J Intern Med (2005) 0.78

C reactive protein: protecting from lupus in familial Mediterranean fever. Ann Rheum Dis (2005) 0.78

Inhibiton of Fc-rosette formation by serum of patients with renal allograft rejection. Lancet (1977) 0.78

Plasma atrial natriuretic peptide and endothelin levels in acute poststreptococcal glomerulonephritis. Pediatr Nephrol (1992) 0.78

Congenital intrahepatic arterioportal fistula: an unusual cause of portal hypertension treated by coil embolization in an infant. Eur J Pediatr Surg (2008) 0.78