Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern

Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

(2013) H. J. McCarthy et al.   Clinical Journal of the American Society of Nephrology

NPHS2Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum

(2013) Karim Bouchireb et al.   HUMAN MUTATION

Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome

(2011) S. Santin et al.   Clinical Journal of the American Society of Nephrology

Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis

(2011) Shreeram Akilesh et al.   JOURNAL OF CLINICAL INVESTIGATION

Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis

(2011) Rasheed A. Gbadegesin et al.   KIDNEY INTERNATIONAL

New perspectives on the renal slit diaphragm protein podocin

(2011) Manfred Relle et al.   MODERN PATHOLOGY

Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome

(2010) S. Santin et al.   Clinical Journal of the American Society of Nephrology

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children

(2010) Ibtihel Benhaj Mbarek et al.   PEDIATRIC NEPHROLOGY

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant

(2009) Eduardo Machuca et al.   KIDNEY INTERNATIONAL

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

(2009) Elizabeth J Brown et al.   NATURE GENETICS

Specific Podocin Mutations Correlate with Age of Onset in Steroid-Resistant Nephrotic Syndrome

(2008) B. Hinkes et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Nephrin Mutations Can Cause Childhood-Onset Steroid-Resistant Nephrotic Syndrome

(2008) A. Philippe et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY