Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome. (Q36810465)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23371956%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome (English)

1 reference

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immunofluorescence microscopy

23 February 2020

main subject

1 reference

1 reference

7

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23 February 2020

0 references

Laura Massella

1

1 reference

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23 February 2020

Concetta Gangemi

2

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23 February 2020

Kostas Giannakakis

3

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23 February 2020

Antonella Crisafi

4

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23 February 2020

Tullio Faraggiana

5

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23 February 2020

Chiara Fallerini

6

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23 February 2020

Andrea Onetti Muda

8

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23 February 2020

Francesco Emma

9

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23 February 2020

publication date

31 January 2013

1 reference

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Clinical Journal of the American Society of Nephrology

23 February 2020

published in

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23 February 2020

volume

8

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23 February 2020

issue

5

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23 February 2020

page(s)

749-755

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Advances in Alport syndrome diagnosis using next-generation sequencing

23 February 2020

cites work

1 reference

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Identification of the NC1 domain of {alpha}3 chain as critical for {alpha}3{alpha}4{alpha}5 type IV collagen network assembly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

Genotype-phenotype correlation in X-linked Alport syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

Measurement and estimation of GFR in children and adolescents

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

Expression of alpha (IV) chains in Alport's syndrome and its correlation with ultrastructural and genetic data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

Molecular genetics of Alport syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

De-novo COL4A5 gene mutations in Alport's syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641614

Distribution of alpha-chains of type IV collagen in glomerular basement membranes with ultrastructural alterations suggestive of Alport syndrome

5 September 2018

1 reference

12 December 2020

Immunohistochemical study of alpha 1-5 chains of type IV collagen in hereditary nephritis

1 reference

12 December 2020

Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution

1 reference

12 December 2020

Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome

1 reference

12 December 2020

Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome

1 reference

12 December 2020

Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)

1 reference

12 December 2020

Role of distinct type IV collagen networks in glomerular development and function

1 reference

12 December 2020

Apport de l'immunohistochimie dans le diagnostic du syndrome d'Alport

1 reference

12 December 2020

Identifiers

DOI

10.2215/CJN.07510712

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23371956%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23371956%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference