(Q35438868)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11836358%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

title

A locus for isolated cataract on human Xp (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11836358%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

3

1 reference

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7 December 2019

author name string

P J Francis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11836358%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

V Berry

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11836358%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

E R Maher

4

1 reference

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7 December 2019

A T Moore

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11836358%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

S S Bhattacharya

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11836358%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

language of work or name

English

0 references

publication date

1 February 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11836358%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

7 December 2019

published in

1 reference

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7 December 2019

volume

39

1 reference

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7 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11836358%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

page(s)

105-109

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11836358%20AND%20SRC:MED&resulttype=core&format=json

Congenital cataract and multisystem disorders

7 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

The gamma-crystallins and human cataracts: a puzzle made clearer

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

Clinical and genetic heterogeneity in autosomal dominant cataract

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

Lens biology: development and human cataractogenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

A comprehensive genetic map of the human genome based on 5,264 microsatellites

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

Epidemiology of childhood blindness

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

Connexin gene mutations in human genetic diseases.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

Strategies for multilocus linkage analysis in humans

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

X-linked cataract and X-linked microphthalmos: how many deletion families?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735039

Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis

26 September 2018

1 reference

12 December 2020

A locus for autosomal dominant anterior polar cataract on chromosome 17p

1 reference

12 December 2020

Arrhythmogenic right ventricular dysplasia and anterior polar cataract

1 reference

12 December 2020

X-Chromosomal-Linked Sutural Cataracts

1 reference

12 December 2020

The Nance-Horan syndrome of dental anomalies, congenital cataracts, microphthalmia, and anteverted pinna: case report

1 reference

12 December 2020

Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects

1 reference

12 December 2020

Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.39.2.105

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11836358%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11836358%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference