(Q37300469)

19 August 2017

Clinical features of affected males with X linked ocular albinism (English)

1 reference

19 August 2017

S J Charles

1

1 reference

19 August 2017

J S Green

2

1 reference

19 August 2017

J W Grant

3

1 reference

19 August 2017

J R Yates

4

1 reference

19 August 2017

A T Moore

5

1 reference

19 August 2017

language of work or name

English

0 references

publication date

1 April 1993

1 reference

British Journal of Ophthalmology

19 August 2017

1 reference

19 August 2017

77

1 reference

19 August 2017

4

1 reference

19 August 2017

222-227

1 reference

THE X-LINKED RECESSIVE INHERITANCE OF ATYPICAL MONOCHROMATISM.

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

A NEW EYE SYNDROME WITH X-CHROMOSOMAL TRANSMISSION. A FAMILY CLAN WITH FUNDUS ALBINISM, FOVEA HYPOPLASIA, NYSTAGMUS, MYOPIA, ASTIGMATISM AND DYSCHROMATOPSIA

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Isolated foveal hypoplasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Complicated hereditary spastic paraparesis with cerebral white matter lesions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Albinism in childhood: a flash VEP and ERG study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Genetic mapping of X linked ocular albinism: linkage analysis in British families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

The perifoveal vasculature in albinism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Congenital nystagmus--genetic and environmental causes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Albino spatial vision as an instance of arrested visual development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Human albinos can discriminate spatial frequency and phase as accurately as normal subjects

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

A qualitative and quantitative analysis of the human fovea during development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Variable expression of vision in sibs with albinism

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Pelizaeus-Merzbacher disease: classical or connatal?

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Delayed visual maturation: ophthalmic and neurodevelopmental aspects

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Linkage analysis in X-linked ocular albinism

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

X-linked ocular albinism. An oculocutaneous macromelanosomal disorder.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Visual system anomalies in human ocular albinos

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

X-linked ocular albinism in Blacks. Ocular albinism cum pigmento

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Genetic studies of ocular albinism in a large Virginia kindred.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Isolated Foveal Hypoplasia

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504486

Ocular albinism in Newfoundland

20 October 2018

1 reference

12 December 2020

Human albinism. Light and electron microscopy study

1 reference

12 December 2020

Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males

1 reference

12 December 2020

Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria

1 reference

12 December 2020

Forsius-Eriksson syndrome: its relation to the Nettleship-Falls X-linked ocular albinism

1 reference

12 December 2020

X-linked recessive congenital stationary night blindness, myopia, and tilted discs

1 reference

12 December 2020

Ophthalmological features of some human hereditary disorders with demyelination

1 reference

12 December 2020

Oculocutaneous albinism and anterior chambre cleavage malformations. Not a coincidence

1 reference

12 December 2020

1 reference

12 December 2020

Retinal vascular and optic nerve abnormalities in albinism

1 reference

12 December 2020

Nettleship-Falls X-linked ocular albinism with Axenfeld's anomaly. A case report

1 reference

12 December 2020

Visual resolution limits in human albinism

1 reference

12 December 2020

Genetic counselling in X-linked ocular albinism: clinical features of the carrier state

1 reference

12 December 2020

Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote

1 reference

12 December 2020

X-chromosomal ocular albinism in a Dutch family

1 reference

12 December 2020

CARRIERS OF OCULAR ALBINISM WITH AND WITHOUT OCULAR CHANGES

1 reference

12 December 2020

Iris pigment defects in normals

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.77.4.222

1 reference

19 August 2017

1 reference

19 August 2017

1 reference