(Q36496262)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246032%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

title

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246032%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

0 references

1 reference

Xiang He

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246032%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Feng Gu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246032%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Yujing Wang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246032%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Jinting Yan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246032%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Meng Zhang

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246032%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Shangzhi Huang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246032%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Xu Ma

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246032%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

publication date

11 January 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246032%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246032%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246032%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

page(s)

56-60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246032%20AND%20SRC:MED&resulttype=core&format=json

Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus

2 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=2267738

FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

Linkage analysis of two families with X-linked recessive congenital motor nystagmus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

SIFT: Predicting amino acid changes that affect protein function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

X-chromosome inactivation and human genetic disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

ERM proteins and merlin: integrators at the cell cortex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

ERM proteins in cell adhesion and membrane dynamics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

Congenital motor nystagmus linked to Xq26-q27.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267738

Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18246032

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18246032

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:18246032%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

PubMed publication ID

18246032

1 reference