Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria (Q59416400)

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19 January 2020

title

Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria (English)

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19 January 2020

author

Konstantinos Voskarides

series ordinal

1

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19 January 2020

Constantinos Deltas

series ordinal

6

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19 January 2020

3

Yiannis Athanasiou

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19 January 2020

5

Alkis Pierides

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19 January 2020

2

Maria Arsali

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19 January 2020

4

Avraam Elia

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19 January 2020

publication date

8 January 2012

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19 January 2020

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19 January 2020

volume

27

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19 January 2020

issue

4

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19 January 2020

page(s)

675-679

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https://scigraph.springernature.com/pub.10.1007/s00467-011-2084-6

19 January 2020

exact match

0 references

cites work

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

1 reference

12 December 2020

The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy

1 reference

12 December 2020

Familial hematurias: what we know and what we don't

1 reference

12 December 2020

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

1 reference

12 December 2020

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

1 reference

12 December 2020

The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults

1 reference

12 December 2020

Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidn

1 reference

12 December 2020

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

1 reference

12 December 2020

NPHS2 R229Q functional variant is associated with microalbuminuria in the general population

1 reference

12 December 2020

Novel case-control test in a founder population identifies P-selectin as an atopy-susceptibility locus

1 reference

12 December 2020

NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review

1 reference

12 December 2020

The role of molecular genetics in diagnosing familial hematuria(s).

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00467-011-2084-6

Identifiers

DOI

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19 January 2020

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