Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation (Q37585903)

21 August 2017

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation (English)

1 reference

21 August 2017

9

Irene Gottlob

1 reference

21 August 2017

5

Frank A Proudlock

1 reference

21 August 2017

6

Rebecca J McLean

1 reference

21 August 2017

Shery Thomas

1

1 reference

21 August 2017

Mervyn G Thomas

2

1 reference

21 August 2017

Caroline Andrews

3

1 reference

21 August 2017

Wai-Man Chan

4

1 reference

21 August 2017

Archana Pradeep

7

1 reference

21 August 2017

Elizabeth C Engle

8

1 reference

21 August 2017

14 August 2013

1 reference

European Journal of Human Genetics

21 August 2017

1 reference

21 August 2017

22

1 reference

21 August 2017

3

1 reference

21 August 2017

344-349

1 reference

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Foveal fine structure in retinopathy of prematurity: an adaptive optics Fourier domain optical coherence tomography study

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Role of Pax6 in development of the cerebellar system

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

PAX6 expression in the developing human eye

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Ocular and vision defects in preschool children

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Clinical and oculomotor characteristics of albinism compared to FRMD7 associated infantile nystagmus

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Missense mutations in the DNA-binding region and termination codon in PAX6.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Specific patterns of neuronal connexions involved in the control of the rabbit's vestibulo-ocular reflexes by the cerebellar flocculus

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

The morphological development of the human fovea

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

High-resolution in vivo imaging in achromatopsia.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Quantitative MR image analysis in subjects with defects in the PAX6 gene

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925285

Ultrahigh-resolution optical coherence tomography (UHR-OCT) of macular holes

1 September 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.162

Autosomal Dominant Foveal Hypoplasia and Presenile Cataracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.162

A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.162

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.162

Is high-resolution spectral domain optical coherence tomography reliable in nystagmus?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.162

Downbeat nystagmus: a type of central vestibular nystagmus

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23942204

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23942204

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Isolated foveal hypoplasia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23942204

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.162

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

23942204

1 reference