Lista de obras - Neveen A. Soliman - Dominio Público Uruguay

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

artículo científico publicado en 2014

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

artículo científico publicado en 2013

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

artículo científico publicado en 2017

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Clinical and ultrasonographical characterization of childhood cystic kidney diseases in Egypt

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Orphan Kidney Diseases

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Lista de obras de 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

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