(Q46701559)

24 December 2017

title

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome (English)

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24 December 2017

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10

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24 December 2017

Myriam Peyrard-Janvid

1

object named as

Myriam Peyrard-Janvid

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Jorma Rautio

6

object named as

Jorma Rautio

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24 December 2017

author name string

Myriam Peyrard-Janvid

1

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24 December 2017

Marie Pegelow

2

1 reference

24 December 2017

Hannele Koillinen

3

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24 December 2017

Catharina Larsson

4

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24 December 2017

Ingegerd Fransson

5

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24 December 2017

Jyri Hukki

7

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24 December 2017

Ola Larson

8

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24 December 2017

Agneta L-A Karsten

9

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24 December 2017

publication date

1 December 2005

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24 December 2017

European Journal of Human Genetics

published in

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24 December 2017

volume

13

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24 December 2017

issue

12

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24 December 2017

page(s)

1261-1267

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24 December 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201493

exact match

0 references

cites work

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201493

Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201493

Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201493

Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201493

A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201493

Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201493

Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201493

A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201493

Fine mapping of the 2p11 dyslexia locus and exclusion of TACR1 as a candidate gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201493

Novel mutations in the IRF6 gene for Van der Woude syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201493

inferred from DOI database lookup

7 January 2021

based on heuristic

Clinical and genetic studies of Van der Woude syndrome in Sweden

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201493

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201493

1 reference

24 December 2017

release_gaxnnw3kozddnpo2kpzhlqushu

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gaxnnw3kozddnpo2kpzhlqushu

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

16160700

1 reference

24 December 2017