Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus (Q24644621)

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6 January 2020

title

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

1 reference

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6 January 2020

author name string

Ningdong Li

1

1 reference

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6 January 2020

Liming Wang

2

1 reference

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6 January 2020

Lihong Cui

3

1 reference

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6 January 2020

Li Zhang

4

1 reference

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6 January 2020

Suzhen Dai

5

1 reference

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6 January 2020

Hongyan Li

6

1 reference

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6 January 2020

Xia Chen

7

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6 January 2020

Lina Zhu

8

1 reference

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6 January 2020

James F Hejtmancik

9

1 reference

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6 January 2020

Kanxing Zhao

10

1 reference

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6 January 2020

language of work or name

English

0 references

publication date

18 April 2008

1 reference

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6 January 2020

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6 January 2020

volume

14

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6 January 2020

page(s)

733-738

1 reference

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

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=2324116

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324116

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324116

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324116

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324116

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324116

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324116

Congenital motor nystagmus linked to Xq26-q27.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324116

Motor and sensory characteristics of infantile nystagmus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324116

A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324116

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

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18431453

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18431453

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:18431453%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

PubMed publication ID

18431453

1 reference