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A novel mutation in the VMD2 gene in an Italian family with Best maculopathy
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1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
title
A novel mutation in the VMD2 gene in an Italian family with Best maculopathy
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
author
Francesca Simonelli
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
Francesco Testa
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
author name string
A Sodi
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
I Passerini
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
U Menchini
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
F Torricelli
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
publication date
1 June 2007
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
published in
Journal Francais d'Ophtalmologie
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
volume
30
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
issue
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
page(s)
616-620
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
cites work
Histopathologic Findings in Best's Vitelliform Macular Dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Choroidal neovascular membrane in Best's vitelliform macular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary retinal dystrophies and choroidal neovascularization
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Macular hole and retinal detachment in Best's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Best's macular dystrophy with a macular hole
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Full-thickness macular hole and retinal detachment complicating Best's disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Vitelliform macular dystrophy: a cause of macular holes with retinal detachments
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Electro-Oculography in Best's Macular Dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of the gene responsible for Best macular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The vitelliform macular dystrophy protein defines a new family of chloride channels
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The mutation spectrum of the bestrophin protein--functional implications
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evaluation of DHPLC in the analysis of hemophilia A.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Denaturing high-performance liquid chromatography: A review
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0181-5512%2807%2989667-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0181-5512(07)89667-7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
PubMed publication ID
17646752
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17646752
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17646752%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 January 2020
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