(Q43457773)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

X-linked Alport syndrome

1 reference

based on heuristic

inferred from title

phenotypic heterogeneity

1 reference

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Konstantinos Voskarides

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Kostas Stylianou

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

author name string

P Demosthenous

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

M Hadjigavriel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

M Arsali

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

C Patsias

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

E Georgaki

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

P Zirogiannis

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

C Stavrou

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

E Daphnis

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

A Pierides

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Hellenic Nephrogenetics Research Consortium

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

publication date

13 March 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

page(s)

240-248

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21332469%20AND%20SRC:MED&resulttype=core&format=json

Alport's syndrome of hereditary nephritis with deafness.

22 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

Genetic heterogeneity of Alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

Alport syndrome and thin basement membrane nephropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

Making the diagnosis of Alport's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

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/10.1111%2FJ.1399-0004.2011.01647.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

Genotype-phenotype correlation in X-linked Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

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/10.1111%2FJ.1399-0004.2011.01647.X

Living donor kidney transplantation from relatives with mild urinary abnormalities in Alport syndrome: long-term risk, benefit and outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

Cyclosporine A treatment in patients with Alport syndrome: a single-center experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

Inherited diseases of the glomerular basement membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

A family with X-linked benign familial hematuria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X

Common interruptions in the repeating tripeptide sequence of non-fibrillar collagens: sequence analysis and structural studies on triple-helix peptide models

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01647.X