(Q73317441)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10617920%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

A possible hot spot in exon 21 of the retinoblastoma gene predisposing to a low penetrant retinoblastoma phenotype? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10617920%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

1 reference

Ahmad NN

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10617920%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Melo MB

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10617920%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Singh AD

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10617920%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Donoso LA

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10617920%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Shields JA

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10617920%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

publication date

1 December 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10617920%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10617920%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10617920%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10617920%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

225-231

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10617920%20AND%20SRC:MED&resulttype=core&format=json

Genetics and Primary Open-Angle Glaucoma*

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

Molecular genetics is revolutionizing our understanding of ophthalmic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

Identification of a gene that causes primary open angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

Recent advances in molecular genetics of glaucomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

Novel mutations in the TIGR gene in early and late onset open angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.20.4.225.2269

10.1076/OPGE.20.4.225.2269

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10617920%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference