(Q35889689)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

R E Schnur

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

P A Wick

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

C Bailey

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

T Rebbeck

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

R G Weleber

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

J Wagstaff

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

A W Grix

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

R A Pagon

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

A Hockey

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

M J Edwards

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

language of work or name

English

0 references

publication date

1 September 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

28 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

page(s)

484-496

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

Sex chromatin and gene action in the mammalian X-chromosome

28 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

Deletion mapping and a highly reduced radiation hybrid in the Xp22.3-p22.2 region

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

A high resolution deletion map of human chromosome Xp22.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

The nature and origin of the melanin macroglobule.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

Albinism, or the NOACH syndrome (the book of Enoch c.v. 1-20).

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

Albinism in childhood: a flash VEP and ERG study

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

A dinucleotide repeat polymorphism at the Kallmann locus (Xp22.3).

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

Linkage analysis in X-linked ocular albinism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

X-linked ocular albinism. An oculocutaneous macromelanosomal disorder.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

Visual system anomalies in human ocular albinos

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

Genetic Mapping of X-Linked Ocular Albinism: Linkage Analysis in a Large Newfoundland Kindred

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918399

Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis

14 November 2018

1 reference

12 December 2020

Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915878%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference