All Stories

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

    Article • Journal of Clinical Investigation, October 2017, American Society for Clinical Investigation

    Professor Neveen A Soliman, Dr Yincent Tse

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

    Article • American Journal of Medical Genetics Part A, August 2017, Wiley

    Professor Neveen A Soliman

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

    Article • Néphrologie & Thérapeutique, May 2017, Elsevier

    Professor Neveen A Soliman

  4. Endemic bladder calculi in children

    Article • Pediatric Nephrology, November 2016, Springer Science + Business Media

    Professor Neveen A Soliman

  5. Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

    Article • Kidney International, June 2016, Elsevier

    Professor Neveen A Soliman

  6. Cystinosis: a review

    Article • Orphanet Journal of Rare Diseases, April 2016, Springer Science + Business Media

    Professor Neveen A Soliman

  7. Urinary α1 -microglobulin and albumin excretion in children and adolescents with type 1 diabetes

    Article • Journal of Diabetes, March 2016, Wiley

    Prof. Aasem Saif, Professor Neveen A Soliman

  8. FAT1 mutations cause a glomerulotubular nephropathy

    Article • Nature Communications, February 2016, Nature

    Professor Neveen A Soliman

  9. Lysosomal Storage Disorders in Egyptian Children

    Article • The Indian Journal of Pediatrics, February 2016, Springer Science + Business Media

    Dr Mohamed A Elmonem, Professor Neveen A Soliman

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

    Article • Kidney International, February 2016, Elsevier

    Professor Neveen A Soliman

  11. Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract

    Article • Nephrology Dialysis Transplantation, January 2016, Oxford University Press (OUP)

    Professor Neveen A Soliman

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

    Article • Journal of Medical Genetics, December 2015, BMJ

    Professor Neveen A Soliman

  13. Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

    Article • Nature Communications, October 2015, Nature

    Professor Neveen A Soliman

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

    Article • Human Genetics, May 2015, Springer Science + Business Media

    Professor Neveen A Soliman

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

    Article • Nephrology, April 2015, Wiley

    Professor Neveen A Soliman

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

    Article • Genetics and Molecular Research, January 2015, Genetics and Molecular Research

    Professor Neveen A Soliman

  17. Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis

    Article • Orphanet Journal of Rare Diseases, November 2014, Springer Science + Business Media

    Dr Mohamed A Elmonem, Professor Neveen A Soliman

  18. A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

    Article • Journal of the American Society of Nephrology, October 2014, American Society of Nephrology

    Professor Neveen A Soliman, Professor Guido Filler

  19. Doppler Assessment of Renal Hemodynamic Alterations in Homozygous Sickle Cell Disease and Sickle Beta-Thalassemia

    Article • Ultrasonic Imaging, October 2014, SAGE Publications

    Professor Neveen A Soliman, Prof. Aasem Saif

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

    Article • Kidney International, June 2014, Elsevier

    Professor Neveen A Soliman

  21. Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome

    Article • Clinical Journal of the American Society of Nephrology, April 2014, American Society of Nephrology

    Professor Neveen A Soliman

  22. Clinical and ultrasonographical characterization of childhood cystic kidney diseases in Egypt

    Article • Renal Failure, March 2014, Taylor & Francis

    Professor Neveen A Soliman

  23. Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis

    Article • January 2014, Springer Science + Business Media

    Dr Mohamed A Elmonem, Professor Neveen A Soliman

  24. Neurocognitive functions and behavioral profiles in children with nephropathic cystinosis

    Article • Saudi Journal of Kidney Diseases and Transplantation, January 2014, Medknow

    Professor Neveen A Soliman

  25. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

    Article • Journal of Clinical Investigation, July 2013, American Society for Clinical Investigation

    Professor Neveen A Soliman

  26. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

    Article • Nature Genetics, June 2013, Nature

    Professor Neveen A Soliman

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

    Article • Human Genetics, April 2013, Springer Science + Business Media

    Professor Neveen A Soliman

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

    Article • Journal of Medical Genetics, November 2012, BMJ

    Professor Neveen A Soliman

  29. Orphan Kidney Diseases

    Article • August 2012, Karger Publishers

    Professor Neveen A Soliman

  30. Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients

    Article • Nephron Clinical Practice, May 2012, Karger Publishers

    Professor Neveen A Soliman

  31. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

    Article • Journal of Clinical Investigation, May 2011, American Society for Clinical Investigation

    Dr Carlos Santos Ocaña, Professor Neveen A Soliman

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

    Article • Nature Genetics, April 2011, Nature

    Professor Neveen A Soliman

  33. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

    Article • Nature Genetics, January 2011, Nature

    Professor Neveen A Soliman

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

    Article • Journal of Medical Genetics, November 2010, BMJ

    Professor Neveen A Soliman, Dr Peter Trnka

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

    Article • Pediatric Nephrology, May 2010, Springer Science + Business Media

    Professor Neveen A Soliman

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

    Article • Pediatric Nephrology, October 2008, Springer Science + Business Media

    Professor Neveen A Soliman