about
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patientA single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.Pattern of clinical presentation of congenital anomalies of the kidney and urinary tract among infants and children.Clinical and ultrasonographical characterization of childhood cystic kidney diseases in Egypt.Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.Complete remission of nephrotic syndrome in an infant with focal segmental glomerulosclerosis: is it renin-angiotensin blockade?Doppler assessment of renal hemodynamic alterations in homozygous sickle cell disease and sickle Beta-thalassemia.Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumHigh-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencingOrphan Kidney Diseases
P50
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P50
description
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Neveen A. Soliman
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Neveen A. Soliman
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Neveen A. Soliman
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Neveen A. Soliman
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Neveen A. Soliman
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Neveen Elshakhs
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Neveen A. Soliman
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Neveen A. Soliman
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Neveen A. Soliman
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2000-01-01T00:00:00Z