(Q57922698)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18425059%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18425059%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

7

1 reference

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6 January 2020

author name string

F U Musa

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18425059%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

P Ratajczak

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18425059%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

J Sahu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18425059%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

S Pentlicky

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18425059%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

A Fryer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18425059%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

G Richard

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18425059%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

language of work or name

English

0 references

publication date

18 April 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18425059%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18425059%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18425059%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18425059%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

page(s)

549-555

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18425059%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/eye.2008.77

6 January 2020

exact match

0 references

cites work

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Glaucoma in oculo-dento-osseous dysplasia.

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Simple microphthalmos

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Classification of microphthalmos and coloboma

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Dysmorphology and the orbital region: a practical clinical approach

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Mutations in GJB6 cause hidrotic ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Connections with connexins: the molecular basis of direct intercellular signaling

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Diverse functions of vertebrate gap junctions

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Isoform composition of connexin channels determines selectivity among second messengers and uncharged molecules

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital Dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Connexin46 mutations in autosomal dominant congenital cataract

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Oculodentodigital dysplasia syndrome with angle-closure glaucoma

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Gap junctions in the eye: evidence for heteromeric, heterotypic and mixed-homotypic interactions

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Anterior segment dysgenesis and the developmental glaucomas are complex traits

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.77

7 January 2021

Identifiers

DOI

10.1038/EYE.2008.77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18425059%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference