(Q36572677)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18431456%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

A novel locus for X-linked congenital cataract on Xq24 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18431456%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

0 references

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18431456%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Kathryn P. Burdon

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18431456%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1

Jamie E Craig

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18431456%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author name string

Kathryn L Friend

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18431456%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Kate M Rattray

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18431456%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Mark Troski

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18431456%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

David A Mackey

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18431456%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

publication date

18 April 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18431456%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18431456%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18431456%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

page(s)

721-726

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18431456%20AND%20SRC:MED&resulttype=core&format=json

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).

6 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

A novel cell-cell junction system: the cortex adhaerens mosaic of lens fiber cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

A locus for isolated cataract on human Xp.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

The catenin p120(ctn) interacts with Kaiso, a novel BTB/POZ domain zinc finger transcription factor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

X-linked dominant inherited diseases with lethality in hemizygous males

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

Easy calculations of lod scores and genetic risks on small computers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

30 September 2017

The Nance-Horan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

Isolation of a candidate gene for Norrie disease by positional cloning

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

Oculo-facio-cardio-dental (OFCD) syndrome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324122

HEREDITARY CATARACTS AND MICROPHTHALMIA

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18431456

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/18431456

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

X-Chromosomal-Linked Sutural Cataracts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18431456

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18431456%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference