(Q36056811)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21688191%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

2 references

3 July 2020

2 November 2020

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21688191%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

2 references

3 July 2020

2 November 2020

1 reference

3 July 2020

1 reference

2 November 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21688191%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Konstantinos Voskarides

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21688191%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

2

Alkis Pierides

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21688191%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

publication date

19 June 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21688191%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 August 2012

2 references

3 July 2020

2 November 2020

3 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21688191%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

3 July 2020

2 November 2020

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21688191%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21688191%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

page(s)

1221-1231

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21688191%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00467-011-1935-5

5 February 2020

exact match

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Genome-wide association study identifies susceptibility loci for IgA nephropathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

The value of clinical criteria in identifying patients with X-linked Alport syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Genotype-phenotype correlation in X-linked Alport syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Natural history and renal pathology in patients with isolated microscopic hematuria

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Identification of novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

2 October 2017

Mammalian collagen IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Structure and function of basement membranes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Spectrum of clinical features and type IV collagen alpha-chain distribution in Chinese patients with Alport syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Thin basement membrane nephropathy associated with other glomerular diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

The clinical features of thin basement membrane nephropathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Thin basement membrane nephropathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Alport's syndrome, Goodpasture's syndrome, and type IV collagen.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Human factor H-related protein 5 (FHR-5). A new complement-associated protein

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Thin GBM nephropathy: premature glomerular obsolescence is associated with hypertension and late onset renal failure

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Alport's syndrome: experience at Hôpital Necker

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Acute interstitial nephritis superimposed on glomerulonephritis: report of a case

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Frequency of renal diseases and clinical indications for renal biopsy in children (report of the Italian National Registry of Renal Biopsies in Children). Group of Renal Immunopathology of the Italian Society of Pediatric Nephrology and Group of Ren

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

11 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1935-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1935-5

Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1935-5

Alport syndrome and thin basement membrane nephropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1935-5

A family with X-linked benign familial hematuria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1935-5

Mutations in the COL4A4 gene in thin basement membrane disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1935-5

Novel COL4A4 splice defect and in‐frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1935-5

COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1935-5

Collagen type IV nephropathy: genetic heterogeneity examinations in affected Hungarian families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1935-5

Clinicopathologic features, outcome, and therapeutic interventions in four children with isolated C3 mesangial proliferative glomerulonephritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1935-5

X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382641

Genome-Wide Linkage Scan of a Large Family with IgA Nephropathy Localizes a Novel Susceptibility Locus to Chromosome 2q36

23 September 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1935-5

Thin basement membrane nephropathy: is there genetic predisposition to more severe disease?

21 January 2018

1 reference

12 December 2020

Evolution of glomerular basement membrane lesions in a male patient with Alport syndrome: ultrastructural and morphometric study

1 reference

12 December 2020

Alport syndrome and the X chromosome: implications of a diagnosis of Alport syndrome in females

1 reference

12 December 2020

Thin basement membrane disease with heavy proteinuria or nephrotic syndrome at presentation

1 reference

12 December 2020

C3 deposition glomerulopathy due to a functional factor H defect

1 reference

12 December 2020

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

1 reference

12 December 2020

Benign familial hematuria associated with a novel COL4A4 mutation

1 reference

12 December 2020

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria

1 reference

12 December 2020

Coexistence of thin membrane and alport nephropathies in families with haematuria

1 reference

12 December 2020

Urine erythrocyte morphology in patients with microscopic haematuria caused by a glomerulopathy

1 reference

12 December 2020

Clinicopathological features in patients with isolated C3 mesangial proliferative glomerulonephritis

1 reference

12 December 2020

Isolated C3 deposition in patients without systemic disease

1 reference

12 December 2020

Long-term evolution of patients with isolated C3 mesangial glomerulonephritis

1 reference

12 December 2020

A new etiology of episcleritis: nephropathies with IgA and/or isolated C3 deposits

1 reference

12 December 2020

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria

1 reference

12 December 2020

The effect of biopsy on therapy in renal disease

1 reference

12 December 2020

Autosomal recessive Alport’s syndrome and benign familial hematuria are collagen type IV diseases

1 reference

12 December 2020

Current indications for renal biopsy: a questionnaire-based survey

1 reference

12 December 2020

Thin glomerular basement membrane nephropathy: incidence in 3471 consecutive renal biopsies examined by electron microscopy

1 reference

12 December 2020

Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP

1 reference

12 December 2020

Novel heterozygous COL4A3 mutation in a family with late-onset ESRD

1 reference

12 December 2020

Signs and symptoms of thin basement membrane nephropathy: a prospective regional study on primary glomerular disease-The Limburg Renal Registry

1 reference

12 December 2020

Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases

1 reference

12 December 2020

10.1007/S00467-011-1935-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21688191%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21688191%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference