Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis (Q36925353)

17 August 2017

Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis (English)

1 reference

exudative vitreoretinopathy

17 August 2017

1 reference

Jia-Kai Li

1

1 reference

17 August 2017

Ping Fei

2

1 reference

17 August 2017

Yian Li

3

1 reference

17 August 2017

Qiu-Jing Huang

4

1 reference

17 August 2017

Qi Zhang

5

1 reference

17 August 2017

Xiang Zhang

6

1 reference

17 August 2017

Yu-Qing Rao

7

1 reference

17 August 2017

Jing Li

8

1 reference

17 August 2017

Peiquan Zhao

9

1 reference

17 August 2017

language of work or name

English

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publication date

23 May 2016

1 reference

17 August 2017

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17 August 2017

6

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17 August 2017

26564

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Creative Commons Attribution 4.0 International

17 August 2017

start time

23 May 2016

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

KSP inhibitors as antimitotic agents

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

Familial exudative vitreoretinopathy and related retinopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

Diversity of retinal vascular anomalies in patients with familial exudative vitreoretinopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

Impaired angiogenesis and tumor development by inhibition of the mitotic kinesin Eg5

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

Advances in the discovery of kinesin spindle protein (Eg5) inhibitors as antitumor agents.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

Norrin: molecular and functional properties of an angiogenic and neuroprotective growth factor.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

Clinical presentation of familial exudative vitreoretinopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

A genetic association between microcephaly and lymphedema

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

27 June 2018

1 reference

The contrasting cultures of HIV and tuberculosis care

21 January 2018

1 reference

A novelKIF11mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family

21 January 2018

1 reference

Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation inKIF11

21 January 2018

1 reference

Familial exudative vitreoretinopathy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4876406

20 October 2018

Identifiers

DOI

10.1038/SREP26564

1 reference

release_5nbazhxxvnft3h5b4iliqli7hy

17 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5nbazhxxvnft3h5b4iliqli7hy

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

17 August 2017

PubMed publication ID

27212378

1 reference