(Q60017599)

12 December 2020

Cytomegalovirus-related congenital nephrotic syndrome with diffuse mesangial sclerosis

1 reference

12 December 2020

Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations

1 reference

12 December 2020

Changing trends in pediatric transplantation: 2001 Annual Report of the North American Pediatric Renal Transplant Cooperative Study

1 reference

12 December 2020

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

1 reference

12 December 2020

Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers

1 reference

12 December 2020

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

1 reference

12 December 2020

A stepwise approach to the treatment of early onset nephrotic syndrome.

1 reference

12 December 2020

Graft function 5-7 years after renal transplantation in early childhood

1 reference

12 December 2020

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

1 reference

12 December 2020

Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs

1 reference

12 December 2020

Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

1 reference

12 December 2020

Role of truncating mutations in MME gene in fetomaternal alloimmunisation and antenatal glomerulopathies

1 reference

12 December 2020

Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane

1 reference

12 December 2020

Renal perfusion in infant recipients of adult-sized kidneys is a critical risk factor

1 reference

12 December 2020

Management of congenital nephrotic syndrome

1 reference

12 December 2020

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.

1 reference

12 December 2020

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

1 reference

12 December 2020

Nephrin is specifically located at the slit diaphragm of glomerular podocytes

1 reference

12 December 2020

Respiratory chain deficiency presenting as congenital nephrotic syndrome

1 reference

12 December 2020

Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients

1 reference

12 December 2020

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome

1 reference

12 December 2020

Congenital and infantile nephrotic syndrome in Thai infants

1 reference

12 December 2020

Genetic forms of nephrotic syndrome.

1 reference

12 December 2020

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

1 reference

12 December 2020

NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms

1 reference

12 December 2020

Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa

1 reference

12 December 2020

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

1 reference

12 December 2020

Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type (NPHS1)

1 reference

12 December 2020

Hereditary proteinuria syndromes and mechanisms of proteinuria

1 reference

12 December 2020

Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach

1 reference

12 December 2020

Pathogenesis of proteinuria: lessons learned from nephrin and podocin.

1 reference

12 December 2020

Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations

1 reference

12 December 2020

Molecular basis of the glomerular filtration: nephrin and the emerging protein complex at the podocyte slit diaphragm

1 reference

12 December 2020

Nephrotic syndrome in the 1st year of life

1 reference

12 December 2020

Wilms' tumor suppressor gene WT1: from structure to renal pathophysiologic features

1 reference

12 December 2020

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

1 reference

12 December 2020

Nail-patella syndrome. Overview on clinical and molecular findings

1 reference

12 December 2020

Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1

1 reference

12 December 2020