(Q35593350)

English

Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.

scientific article published on July 2005

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965158%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965158%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

ocular albinism

1 reference

based on heuristic

inferred from title

1

1 reference

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13 January 2020

author name string

Jalkanen R

2

1 reference

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13 January 2020

Huttunen J

3

1 reference

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13 January 2020

Carlsson E

4

1 reference

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13 January 2020

Tuupanen S

5

1 reference

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13 January 2020

Lindh S

6

1 reference

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13 January 2020

Forsius H

7

1 reference

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13 January 2020

Sankila EM

8

1 reference

Europe PubMed Central

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13 January 2020

Alitalo T

9

1 reference

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13 January 2020

language of work or name

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publication date

1 July 2005

1 reference

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13 January 2020

British Journal of Ophthalmology

1 reference

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13 January 2020

89

1 reference

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13 January 2020

7

1 reference

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13 January 2020

820-824

1 reference

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13 January 2020

Sex chromatin and gene action in the mammalian X-chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

The clinical features of albinism and their correlation with visual evoked potentials

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

Deletion in the OA1 gene in a family with congenital X linked nystagmus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

Ocular albinism: evidence for a defect in an intracellular signal transduction system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

Evoked potential analysis of visual pathways in human albinism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

Measurable linkage between ocular albinism and Xg.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

X-linked ocular albinism. Characteristic pattern of affection in female carriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

Linkage analysis in X-linked ocular albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

Aspects of albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

X-linked ocular albinism. An oculocutaneous macromelanosomal disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

Visual system anomalies in human ocular albinos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

27 July 2018

New method for detecting misrouted retinofugal fibers in humans with albinism by magnetoencephalography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

26 September 2018

Chiasmal coefficient of flash and pattern visual evoked potentials for detection of chiasmal misrouting in albinism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

26 September 2018

Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

26 September 2018

X-linked ocular albinism: prevalence and mutations--a national study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

26 September 2018

Clinical features of affected males with X linked ocular albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

26 September 2018

Ocular albinism and Xg.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772728

26 September 2018

Macromelanosomes in X-linked ocular albinism

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965158

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked ocular albinism: relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965158

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A decisive electrophysiological test for human albinism

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965158

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Visual anomalies associated with albinism

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965158

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965158

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965158

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Refinement of the localization of the X-linked ocular albinism gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965158

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/BJO.2004.060582

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965158%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965158%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965158%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

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