(Q35195904)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1985461%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

title

Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1985461%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

1 reference

Albert de la Chapelle

5

object named as

de la Chapelle A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1985461%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

author name string

Alitalo T

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1985461%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

Kruse TA

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1985461%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

Forsius H

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1985461%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

Eriksson AW

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1985461%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

language of work or name

English

0 references

publication date

1 January 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1985461%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

22 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1985461%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

volume

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1985461%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1985461%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

page(s)

31-38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1985461%20AND%20SRC:MED&resulttype=core&format=json

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

22 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

Strategies for multilocus linkage analysis in humans

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

Easy calculations of lod scores and genetic risks on small computers

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

Some notes on publications of Professor Arnold Sorsby and on Aland eye disease (Forsius-Eriksson syndrome)

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

A model system for the analysis of gene exclusion: cystic fibrosis and chromosome 19.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

Congenital stationary night blindness with negative electroretinogram. A new classification

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

Report of the committee on linkage and gene order

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

Report of the committee on the genetic constitution of the X chromosome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

Isolation and characterization of a human variable copy number tandem repeat at Xcen-p11.22.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682761

A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome

13 July 2018

1 reference

12 December 2020

Nystagmographical studies in Aland eye disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Aland eye disease: no albino misrouting

1 reference

12 December 2020

Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci

1 reference

12 December 2020

X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85

1 reference

12 December 2020

Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1985461%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

PubMed publication ID

1985461

1 reference