Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice

TRPC6 Mutations in Children with Steroid-Resistant Nephrotic Syndrome and Atypical Phenotype

(2011) M. Gigante et al.   Clinical Journal of the American Society of Nephrology

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

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

(2011) Saskia F. Heeringa et al.   JOURNAL OF CLINICAL INVESTIGATION

Screening for NPHS2 Mutations May Help Predict FSGS Recurrence after Transplantation

(2011) T. C. Jungraithmayr et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutations in INF2 Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis

(2011) O. Boyer et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Immunosuppressive treatment of focal segmental glomerulosclerosis: lessons from a randomized controlled trial

(2011) Jeroen K.J. Deegens et al.   KIDNEY INTERNATIONAL

MYO1EMutations and Childhood Familial Focal Segmental Glomerulosclerosis

(2011) Caterina Mele et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Immunosuppression and Renal Outcome in Congenital and Pediatric Steroid-Resistant Nephrotic Syndrome

(2010) A. K. Buscher et al.   Clinical Journal of the American Society of Nephrology

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

(2010) O. Boyer et al.   JOURNAL OF MEDICAL GENETICS

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations

(2010) Geneviève Benoit et al.   PEDIATRIC NEPHROLOGY

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis

(2009) Sheila Santín et al.   KIDNEY INTERNATIONAL

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

Congenital disorders of glycosylation: a rare cause of nephrotic syndrome

(2009) M. D. Sinha et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS)

(2009) M. Gigante et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis

(2009) S. Santin et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome

(2009) Geneviève Benoit et al.   PEDIATRIC NEPHROLOGY

A Novel TRPC6 Mutation That Causes Childhood FSGS

(2009) Saskia F. Heeringa et al.   PLoS One

Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

(2008) Samuel F. Berkovic et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Association of Podocin R229Q Polymorphism With Increased Albuminuria or Reduced Estimated GFR in a Large Population-Based Sample of US Adults

(2008) Anna Köttgen et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

(2008) Julia Rankin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A

(2008) Christian Faul et al.   NATURE MEDICINE

Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis

(2008) M. Lowik et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Collapsing glomerulopathy in Galloway–Mowat syndrome: A case report and review of the literature

(2008) Hervé Sartelet et al.   PATHOLOGY RESEARCH AND PRACTICE

Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS

(2008) Rasheed Gbadegesin et al.   PEDIATRIC NEPHROLOGY

NPHS2variation in focal and segmental glomerulosclerosis

(2008) Stephen J Tonna et al.   BMC Nephrology