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A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis

artículo científico publicado en 2010

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

article

Broadening the spectrum of diseases related to podocin mutations

artículo científico publicado en 2003

Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations

artículo científico publicado en 2009

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

article

Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin

artículo científico publicado en 2004

Lack of cardiac anomalies in children with NPHS2 mutations

artículo científico publicado en 2007

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33

artículo científico publicado en 2007

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

artículo científico publicado en 2010

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy

article

Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin

artículo científico publicado en 2003

Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy

article

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