(Q57980406)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

1 reference

Juvenile nephronophthisis

1 reference

1

1 reference

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3 November 2019

Luisa Murer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Gian Marco Ghiggeri

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

M Dagnino

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

R Gusmano

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

F Ginevri

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

L Ghio

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

G Piaggio

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M R Ciardi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

F Perfumo

9

1 reference

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3 November 2019

publication date

1 January 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Kidney Diseases

3 November 2019

published in

1 reference

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3 November 2019

volume

35

1 reference

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3 November 2019

issue

1

1 reference

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3 November 2019

page(s)

44-51

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-q13.

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Autosomal dominant polycystic kidney disease: molecular analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Juvenile Familial Nephropathy with Tapetoretinal Degeneration*

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Hereditary renal dysplasia and blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

A gene for Leber's congenital amaurosis maps to chromosome 17p

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Identification of a gene for nephronophthisis

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

Progressive kidney degeneration in mice lacking tensin

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3

7 January 2021

10.1016/S0272-6386(00)70300-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference