(Q33585595)

28 July 2017

1 reference

title

Glaucoma genetics, present and future (English)

1 reference

28 July 2017

Friedman JS

1

1 reference

PubMed ID

10189083

28 July 2017

Walter MA

series ordinal

2

1 reference

28 July 2017

1 February 1999

1 reference

28 July 2017

1 reference

28 July 2017

55

1 reference

28 July 2017

2

1 reference

28 July 2017

71-79

1 reference

Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes

28 July 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Identification of a gene that causes primary open angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

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/10.1034%2FJ.1399-0004.1999.550201.X

Molecular cloning of olfactomedin, an extracellular matrix protein specific to olfactory neuroepithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Four structurally distinct neuron-specific olfactomedin-related glycoproteins produced by differential promoter utilization and alternative mRNA splicing from a single gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

PAX6 missense mutation in isolated foveal hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Isolation and characterization of cDNAs encoding the heavy chain of human inter-alpha-trypsin inhibitor (I alpha TI): unambiguous evidence for multipolypeptide chain structure of I alpha TI

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Targets for dioxin: genes for plasminogen activator inhibitor-2 and interleukin-1 beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Mouse small eye results from mutations in a paired-like homeobox-containing gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Squid Pax-6 and eye development

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25).

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Pitx2 participates in the late phase of the pathway controlling left-right asymmetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Evidence for linkage of spelling disability to chromosome 15

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

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/10.1034%2FJ.1399-0004.1999.550201.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

7 January 2021

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

7 January 2021

The effect of dose fractionation on the frequency of ethylnitrosourea-induced dominant cataract and recessive specific locus mutations in germ cells of the mouse

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

7 January 2021

Non-allelic mutations in X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

7 January 2021

Genetic mapping of loci for X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

7 January 2021

A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550201.X

7 January 2021

10.1034/J.1399-0004.1999.550201.X

Identifiers

DOI

1 reference

28 July 2017

1 reference

PubMed ID

10189083