(Q52655245)

English

Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.

scientific article published on 26 November 2014

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25427950%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25427950%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

cilium assembly

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1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

3

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23 February 2020

4

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23 February 2020

author name string

Jonathan Saari

1

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23 February 2020

Mark A Lovell

2

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23 February 2020

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publication date

26 November 2014

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23 February 2020

American Journal of Medical Genetics

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23 February 2020

167A

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23 February 2020

421-427

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23 February 2020

2

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23 February 2020

Making sense of cilia in disease: the human ciliopathies.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

Oral-facial-digital syndrome: report on a transitional type between the Mohr and Váradi syndromes in a fetus

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

The WD40 repeat protein fritz links cytoskeletal planar polarity to frizzled subcellular localization in the Drosophila epidermis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

The ciliopathies: a transitional model into systems biology of human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

The molecular basis of oral-facial-digital syndrome, type 1.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

TCTN3 mutations cause Mohr-Majewski syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

Oral–facial–digital syndromes: Review and diagnostic guidelines

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36852

21 January 2018

Identifiers

10.1002/AJMG.A.36852

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25427950%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25427950%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

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