(Q34387769)

1 August 2017

title

Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11 (English)

1 reference

1 August 2017

main subject

angle-closure glaucoma

1 reference

1 reference

9

M Boehnke

1 reference

1 August 2017

M I Othman

1

1 reference

1 August 2017

S A Sullivan

2

1 reference

1 August 2017

G L Skuta

3

1 reference

1 August 2017

D A Cockrell

4

1 reference

1 August 2017

H M Stringham

5

1 reference

1 August 2017

C A Downs

6

1 reference

1 August 2017

A Fornés

7

1 reference

1 August 2017

A Mick

8

1 reference

1 August 2017

D Vollrath

10

1 reference

1 August 2017

J E Richards

11

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 November 1998

1 reference

American Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

63

1 reference

1 August 2017

issue

5

1 reference

1 August 2017

page(s)

1411-1418

1 reference

Sequential tests for the detection of linkage

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Dissection of the transactivation function of the transcription factor encoded by the eye developmental gene PAX6.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Pax-6, eyes absent, and Prox 1 in eye development.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Pax-6, Prox 1, and Chx10 homeobox gene expression correlates with phenotypic fate of retinal precursor cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

PAX6 missense mutation in isolated foveal hypoplasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Genetic aspects of embryonic eye development in vertebrates

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

A comprehensive genetic map of the human genome based on 5,264 microsatellites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Autosomal dominant simple microphthalmos

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Mutation of the PAX6 gene in patients with autosomal dominant keratitis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Nanophthalmos: a perspective on identification and therapy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Nanophthalmos with uveal effusion: a new clinical entity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Nanophthalmic sclera. Fibronectin studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Allele frequency estimation from data on relatives

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Abnormal sclerocytes in nanophthalmos.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

The human PAX6 gene is mutated in two patients with aniridia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Ultrasonographic Study of 100 Emmetropic Eyes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Angle-Closure Glaucoma in Nanophthalmos

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

[Recessive, sex-limited microphthalmia with multiple abnormalities]

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377551

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

9 December 2018

1 reference

12 December 2020

Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome

1 reference

12 December 2020

[Familial nanophthalmos]

1 reference

12 December 2020

Programs for pedigree analysis: Mendel, Fisher, and dGene

1 reference

12 December 2020

Simple microphthalmos

1 reference

12 December 2020

Nanophthalmos in sisters, one with exfoliation syndrome

1 reference

12 December 2020

[Nanophthalmos with uveal effusion]

1 reference

12 December 2020

Linkage studies in Lenz microphthalmia

1 reference

12 December 2020

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

12 December 2020

Identifiers

DOI

10.1086/302113

1 reference

1 August 2017

1 reference

1 August 2017

1 reference