(Q43727795)

English

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11535458%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11535458%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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John H. Fingert

9

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10 November 2019

2

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10 November 2019

Joanne L Dickinson

7

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10 November 2019

10

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10 November 2019

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J E Craig

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10 November 2019

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D L Healey

3

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10 November 2019

A I McNaught

4

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10 November 2019

P J McCartney

5

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10 November 2019

J L Rait

6

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10 November 2019

L Roe

8

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10 November 2019

D A Mackey

11

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10 November 2019

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publication date

1 September 2001

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10 November 2019

1 reference

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10 November 2019

108

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10 November 2019

9

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10 November 2019

1607-1620

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10 November 2019

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900654-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900654-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a gene that causes primary open angle glaucoma.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900654-6

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900654-6

7 January 2021

based on heuristic

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Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900654-6

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900654-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900654-6

7 January 2021

based on heuristic

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

1 reference

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7 January 2021

based on heuristic

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Isolation and characterization of cell-specific cDNA clones from a subtractive library of the ocular ciliary body of a single normal human donor: transcription and synthesis of plasma proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900654-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900654-6

7 January 2021

based on heuristic

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The problem of overlapping glaucoma families in the Glaucoma Inheritance Study in Tasmania (GIST).

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900654-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900654-6

7 January 2021

based on heuristic

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Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900654-6

7 January 2021

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Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice.

1 reference

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7 January 2021

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Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

1 reference

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7 January 2021

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Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900654-6

7 January 2021

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Genetic dissection of complex traits

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900654-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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