A review of the molecular genetics of congenital Idiopathic Nystagmus (CIN). (Q34730771)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18161616 AND SRC:MED&resulttype=core&format=json

31 December 2019

review article

1 reference

title

A review of the molecular genetics of congenital Idiopathic Nystagmus (CIN) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18161616 AND SRC:MED&resulttype=core&format=json

31 December 2019

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18161616 AND SRC:MED&resulttype=core&format=json

31 December 2019

Andrew J Lotery

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18161616 AND SRC:MED&resulttype=core&format=json

31 December 2019

author name string

James Self

series ordinal

1

1 reference

4 August 2017

Andrew Lotery

series ordinal

2

1 reference

4 August 2017

publication date

1 December 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18161616 AND SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

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31 December 2019

volume

28

1 reference

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31 December 2019

issue

4

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31 December 2019

page(s)

187-191

1 reference

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The molecular genetics of congenital idiopathic nystagmus.

31 December 2019

cites work

1 reference

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Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12

21 January 2018

1 reference

https://api.crossref.org/works/10.1080/13816810701651233

Congenital nystagmus cosegregating with a balanced 7;15 translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080/13816810701651233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080/13816810701651233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080/13816810701651233

Congenital motor nystagmus linked to Xq26-q27.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080/13816810701651233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080/13816810701651233

Ocular and vision defects in preschool children

21 January 2018

1 reference

https://api.crossref.org/works/10.1080/13816810701651233

Heredity and rheumatic fever; some later information about data collected in 1950-51.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080/13816810701651233

Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus

21 January 2018

1 reference

https://api.crossref.org/works/10.1080/13816810701651233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080/13816810701651233

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families

21 January 2018

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Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa

21 January 2018

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A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

21 January 2018

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Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

21 January 2018

1 reference

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

21 January 2018

1 reference

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The product of the yeast UPF1 gene is required for rapid turnover of mRNAs containing a premature translational termination codon

21 January 2018

1 reference

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Gene products that promote mRNA turnover in Saccharomyces cerevisiae

21 January 2018

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RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

21 January 2018

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10.1080/13816810701651233

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18161616 AND SRC:MED&resulttype=core&format=json

release_vj6dbdcwevgqheo3fpxekvgili

31 December 2019

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/vj6dbdcwevgqheo3fpxekvgili

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference