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Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: Insights from molecular screening
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
title
Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
main subject
Italy
1 reference
based on heuristic
inferred from title
heterogeneity
1 reference
based on heuristic
inferred from title
Juvenile nephronophthisis
1 reference
based on heuristic
inferred from title
author
Gianluca Caridi
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
Luisa Murer
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
Gian Marco Ghiggeri
series ordinal
10
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
author name string
M Dagnino
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
R Gusmano
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
F Ginevri
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
L Ghio
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
G Piaggio
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
M R Ciardi
series ordinal
8
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
F Perfumo
series ordinal
9
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
publication date
1 January 2000
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
published in
American Journal of Kidney Diseases
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
volume
35
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
page(s)
44-51
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
cites work
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-q13.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
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7 January 2021
based on heuristic
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A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
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7 January 2021
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Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease
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https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
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7 January 2021
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Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
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7 January 2021
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Identification of a new locus for medullary cystic disease, on chromosome 16p12.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
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7 January 2021
based on heuristic
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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
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Crossref
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https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
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7 January 2021
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Autosomal dominant polycystic kidney disease: molecular analysis.
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Crossref
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Juvenile Familial Nephropathy with Tapetoretinal Degeneration*
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Crossref
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https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
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7 January 2021
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Hereditary renal dysplasia and blindness
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Crossref
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https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
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7 January 2021
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Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
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Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa
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A gene for Leber's congenital amaurosis maps to chromosome 17p
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Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
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Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion
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Crossref
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7 January 2021
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Identification of a gene for nephronophthisis
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0272-6386%2800%2970300-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0272-6386(00)70300-3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
PubMed publication ID
10620543
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10620543
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10620543%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
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