List of works - Neveen A. Soliman

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

scientific article

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

scientific article published on 8 July 2013

Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome

scientific article

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

scientific article

Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly

scientific article published on 17 April 2015

Clinical and ultrasonographical characterization of childhood cystic kidney diseases in Egypt

scientific article

Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.

scientific article

Complete remission of nephrotic syndrome in an infant with focal segmental glomerulosclerosis: is it renin-angiotensin blockade?

scientific article

Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature

scientific article published on 17 August 2017

Doppler assessment of renal hemodynamic alterations in homozygous sickle cell disease and sickle Beta-thalassemia

scientific article published on 6 October 2014

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scholarly article published in Nature Genetics

FAT1 mutations cause a glomerulotubular nephropathy

scientific article

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

article

Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient

scientific article

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

scientific article

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

scientific article published on 16 December 2015

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

scientific article

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

scientific article

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

scientific article

Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

scientific article published on 31 May 2015

Nephropathic cystinosis in a developing country: The Egyptian experience ⬇️

scientific article published on January 1, 2013

Orphan Kidney Diseases

scientific article published on 24 August 2012

Pattern of clinical presentation of congenital anomalies of the kidney and urinary tract among infants and children

scientific article published on June 2015

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome

scientific article

Subtle cardiac dysfunction in nephropathic cystinosis: insight from tissue Doppler imaging and 2D speckle tracking echocardiography

scientific article published on 14 July 2020

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scientific article

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

scientific article

List of works by Neveen A. Soliman

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly

Clinical and ultrasonographical characterization of childhood cystic kidney diseases in Egypt

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?

Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature

Doppler assessment of renal hemodynamic alterations in homozygous sickle cell disease and sickle Beta-thalassemia

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

FAT1 mutations cause a glomerulotubular nephropathy

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

Nephropathic cystinosis in a developing country: The Egyptian experience ⬇️

Orphan Kidney Diseases

Pattern of clinical presentation of congenital anomalies of the kidney and urinary tract among infants and children

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome

Subtle cardiac dysfunction in nephropathic cystinosis: insight from tissue Doppler imaging and 2D speckle tracking echocardiography

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity