(Q34589457)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365021%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

title

Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365021%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

0 references

Ningdong Li

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365021%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Xiaojuan Wang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365021%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Yuchuan Wang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365021%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Liming Wang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365021%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Ming Ying

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365021%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Ruifang Han

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365021%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Yuyan Liu

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365021%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Kanxing Zhao

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365021%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

publication date

11 February 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365021%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365021%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365021%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

page(s)

461-468

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365021%20AND%20SRC:MED&resulttype=core&format=json

Human genetic disorders of axon guidance

24 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=3042361

The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

FARP1 promotes the dendritic growth of spinal motor neuron subtypes through transmembrane Semaphorin6A and PlexinA4 signaling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

The genetic basis of complex strabismus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

FARP2 triggers signals for Sema3A-mediated axonal repulsion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Membrane-protein interactions in cell signaling and membrane trafficking

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

A novel FERM domain including guanine nucleotide exchange factor is involved in Rac signaling and regulates neurite remodeling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Motor and sensory characteristics of infantile nystagmus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Clinical and ocular motor analysis of the infantile nystagmus syndrome in the first 6 months of life

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Congenital motor nystagmus linked to Xq26-q27.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Assessing protein structures with a non-local atomic interaction energy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042361

Evidence for genetic heterogeneity in families with congenital motor nystagmus (CN)

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21365021

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:21365021%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

PubMed publication ID

21365021

1 reference