Published in Am J Med Genet A on August 01, 2009
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet (2013) 1.51
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet (2013) 1.16
Spectrum of clinical diseases caused by disorders of primary cilia. Proc Am Thorac Soc (2011) 1.15
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. Am J Med Genet A (2010) 0.96
A role for mesenchyme dynamics in mouse lung branching morphogenesis. PLoS One (2012) 0.93
Oral manifestations of Ellis-van Creveld syndrome. Contemp Clin Dent (2012) 0.87
Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound. Pol J Radiol (2015) 0.75
Spinal correction of scoliosis in Jeune syndrome: a report of two cases. Scoliosis Spinal Disord (2016) 0.75
Chondroectodermal dysplasia: a rare syndrome. J Dent (Tehran) (2014) 0.75
Percutaneous nephrolithotomy in children with cystine stone: long-term outcomes from a single institution. J Urol (2013) 1.48
Peritonitis in children who receive long-term peritoneal dialysis: a prospective evaluation of therapeutic guidelines. J Am Soc Nephrol (2007) 1.23
Coronary artery calcifications in children with end-stage renal disease. Pediatr Nephrol (2006) 1.21
Quality of life in children with chronic kidney disease (with child and parent assessments). Pediatr Nephrol (2010) 1.20
Enuresis: prevalence, risk factors and urinary pathology among school children in Istanbul, Turkey. Pediatr Int (2004) 1.17
Jarcho-Levin syndrome presenting as neural tube defect: report of four cases and pitfalls of diagnosis. Fetal Diagn Ther (2007) 1.11
Impact of global economic disparities on practices and outcomes of chronic peritoneal dialysis in children: insights from the International Pediatric Peritoneal Dialysis Network Registry. Perit Dial Int (2012) 1.10
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. Pediatr Nephrol (2007) 0.99
Blood volume monitoring to adjust dry weight in hypertensive pediatric hemodialysis patients. Pediatr Nephrol (2008) 0.96
DNA repair gene XPD and XRCC1 polymorphisms and the risk of childhood acute lymphoblastic leukemia. Leuk Res (2008) 0.95
Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness. Turk J Pediatr (2009) 0.94
A child with primary Sjögren syndrome and a review of the literature. Clin Pediatr (Phila) (2007) 0.91
Assessment of cardiovascular risk in paediatric peritoneal dialysis patients: a Turkish Pediatric Peritoneal Dialysis Study Group (TUPEPD) report. Nephrol Dial Transplant (2009) 0.91
Investigation of BRAF V600E mutation in papillary thyroid carcinoma and tumor-surrounding nontumoral tissues. DNA Cell Biol (2012) 0.91
The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type. Pediatr Radiol (2008) 0.91
Traditional and "new" cardiovascular risk markers and factors in pediatric dialysis patients. Pediatr Nephrol (2007) 0.90
Progression of coronary calcification in pediatric chronic kidney disease stage 5. Pediatr Nephrol (2008) 0.89
Chronic peritoneal dialysis in Turkish children: a multicenter study. Pediatr Nephrol (2005) 0.88
Plasma malondialdehyde, superoxide dismutase, sE-selectin, fibronectin, endothelin-1 and nitric oxide levels in women with preeclampsia. Eur J Obstet Gynecol Reprod Biol (2004) 0.86
A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset. Clin Immunol (2012) 0.85
Plasma and placental levels of interleukin-10, transforming growth factor-beta1, and epithelial-cadherin in preeclampsia. Obstet Gynecol (2002) 0.84
Peritonitis rates and common microorganisms in continuous ambulatory peritoneal dialysis and automated peritoneal dialysis. Pediatr Int (2009) 0.84
Spondyloenchondrodysplasia: clinical variability in three cases. Am J Med Genet A (2004) 0.84
Antenatal Bartter syndrome: analysis of two cases with placental findings. Fetal Pediatr Pathol (2010) 0.83
Nephrocalcinosis as a complication of subcutaneous fat necrosis of the newborn. Turk J Pediatr (2013) 0.83
Congenital imperforate hymen with hydrocolpos diagnosed using prenatal MRI. AJR Am J Roentgenol (2007) 0.82
A case of catastrophic antiphospholipid syndrome in an adolescent girl with parvovirus B19 infection. Clin Pediatr (Phila) (2008) 0.82
Impact of peritoneal transport characteristics on cardiac function in paediatric peritoneal dialysis patients: a Turkish Pediatric Peritoneal Dialysis Study Group (TUPEPD) report. Nephrol Dial Transplant (2010) 0.82
Placental stem cell markers in pre-eclampsia. Int J Gynaecol Obstet (2007) 0.81
Uveitis and anti nuclear antibody positivity in children with juvenile idiopathic arthritis. Indian Pediatr (2004) 0.81
Coronary events and anatomy after arterial switch operation for transposition of the great arteries: detection by 16-row multislice computed tomography angiography in pediatric patients. Cardiovasc Intervent Radiol (2008) 0.81
Ambulatory blood pressure and subclinical cardiovascular disease in patients with juvenile-onset systemic lupus erythematosus. Pediatr Nephrol (2012) 0.81
Abdominal manifestations of polyarteritis nodosa demonstrated with CT. Pediatr Radiol (2010) 0.80
Malnutrition and its association with inflammation and vascular disease in children on maintenance dialysis. Pediatr Nephrol (2013) 0.79
Acute promyelocytic leukemia treated with idarubicin complicated by focal segmental glomerulosclerosis. J Pediatr Hematol Oncol (2010) 0.79
Semilobar holoprosencephaly with associated cyclopia and radial aplasia: first trimester diagnosis by means of integrating 2D-3D ultrasound. Arch Gynecol Obstet (2009) 0.79
Challenges in pediatric peritoneal dialysis in Turkey. Int Urol Nephrol (2008) 0.78
Anterior mediastinal lymphangioma: pre- and postnatal sonographic findings. J Clin Ultrasound (2012) 0.78
Left ventricular function by 'conventional' and 'tissue Doppler' echocardiography in paediatric dialysis patients. Nephrology (Carlton) (2009) 0.78
Evaluation of classification criteria for juvenile-onset spondyloarthropathies. Rheumatol Int (2004) 0.78
Serum endocan concentration in women with pre-eclampsia. Arch Gynecol Obstet (2014) 0.78
Albuminuria and tubular markers in juvenile idiopathic arthritis. Pediatr Nephrol (2004) 0.78
Lack of relation between serum parathyroid hormone levels and erythrocyte osmotic fragility in pediatric patients on peritoneal dialysis. Ren Fail (2004) 0.77
Subclinical cardiovascular disease and its association with risk factors in children with steroid-resistant nephrotic syndrome. Pediatr Nephrol (2013) 0.77
Left ventricular systolic and diastolic function and carotid intima-media thickness in pediatric dialysis patients. Int Urol Nephrol (2008) 0.77
Immunohistochemical analysis of orbital connective tissue specimens of patients with active Graves ophthalmopathy. Curr Eye Res (2005) 0.77
Hepatitis B virus vaccination in children with steroid sensitive nephrotic syndrome: immunogenicity and safety? Vaccine (2013) 0.77
Increased maternal serum and cord blood fibronectin concentrations in preeclampsia are associated with higher placental hyaluronic acid and hydroxyproline content. Hypertens Pregnancy (2010) 0.77
Dialysate CA125 levels in children on continuous peritoneal dialysis. Pediatr Nephrol (2005) 0.77
Glucose intolerance: is it a risk factor for cardiovascular disease in children with chronic kidney disease? Pediatr Nephrol (2011) 0.77
Craniorachischisis with a variant of pentalogy of Cantrell, with lung extrophy. Fetal Pediatr Pathol (2011) 0.76
Prenatal diagnosis of arthrogryposis multiplex congenita with increased nuchal translucency but without any underlying fetal neurogenic or myogenic pathology. Fetal Diagn Ther (2002) 0.76
Treatment of pediatric Burkitt lymphoma in Turkey. J Pediatr Hematol Oncol (2010) 0.76
Serum leptin levels in hypertensive disorder of pregnancy. Eur J Obstet Gynecol Reprod Biol (2005) 0.76
Carnitine supplementation improves apolipoprotein B levels in pediatric peritoneal dialysis patients. Pediatr Nephrol (2003) 0.75
A rare cause of ischemic stroke: fibromuscular dysplasia. Neurol Sci (2009) 0.75
Maternal serum apelin and YKL-40 levels in early and late-onset pre-eclampsia. Hypertens Pregnancy (2014) 0.75
Multiple fetal anomalies in association with topiramate and oxcarbezepine treatment. Fetal Pediatr Pathol (2012) 0.75
Comparison of color doppler US and CT portography in evaluating portal hypertension in children. South Med J (2012) 0.75
Prenatal diagnosis of left coronary artery to right ventricle fistula. J Clin Ultrasound (2014) 0.75
Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia? Am J Med Genet A (2003) 0.75
Involvement of prostaglandin F2α in preeclamptic human umbilical vein vasospasm: a role of prostaglandin F and thromboxane A2 receptors. J Hypertens (2010) 0.75
Renal amyloidosis secondary to cystic fibrosis. Indian J Pediatr (2014) 0.75
Renovascular hypertension in a child with Marfan syndrome. Anadolu Kardiyol Derg (2010) 0.75
A comparison of oral and vaginal misoprostol for induction of labor. Eur J Obstet Gynecol Reprod Biol (2005) 0.75
Scimitar syndrome and pregnancy, complicated with severe preeclampsia. Arch Gynecol Obstet (2014) 0.75
Classic polyarteritis nodosa presenting with acute anuric renal failure. Pediatr Int (2010) 0.75
A study on visual evoked responses in children with chronic renal failure. Neurophysiol Clin (2005) 0.75
Diagnosis and outcome of pregnancies with prenatally diagnosed fetal dextrocardia. J Matern Fetal Neonatal Med (2014) 0.75
Toxic hepatitis due to enalapril in childhood. Pediatr Int (2003) 0.75
Duration and dispersion of the P wave after the Senning operation. Cardiol Young (2009) 0.75
Pathogens causing urinary tract infections in infants: a European overview by the ESCAPE study group. Eur J Pediatr (2014) 0.75
Dialysate CA125 levels after 5 years on continuous peritoneal dialysis. Pediatr Nephrol (2011) 0.75