(Q24645286)

English

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

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scholarly article

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Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome (English)

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Van der Woude syndrome

1 reference

based on heuristic

inferred from title

popliteal pterygium syndrome

1 reference

based on heuristic

inferred from title

multiple pterygium syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

18

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Sandra Daack-Hirsch

object named as

Sandra Daack-Hirsch

13

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Danilo Moretti-Ferreira

object named as

Danilo Moretti-Ferreira

20

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Christine Verellen-Dumoulin

17

object named as

Christine Verellen-Dumoulin

0 references

Mary L. Marazita

8

object named as

Mary L Marazita

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author name string

Renata L L Ferreira de Lima

1

0 references

Sarah A Hoper

2

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Michella Ghassibe

3

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Margaret E Cooper

4

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Nicholas K Rorick

5

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Shinji Kondo

6

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Lori Katz

7

0 references

John Compton

9

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Sherri Bale

10

0 references

Ute Hehr

11

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Michael J Dixon

12

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Odile Boute

14

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Bénédicte Bayet

15

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Nicole Revencu

16

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Antônio Richieri-Costa

19

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Jeffrey C Murray

21

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Brian C Schutte

22

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language of work or name

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publication date

April 2009

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Genetics in Medicine

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11

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4

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241-7

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Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

7 April 2017

Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

7 April 2017

Mammary serine protease inhibitor (Maspin) binds directly to interferon regulatory factor 6: identification of a novel serpin partnership

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

7 April 2017

Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

7 April 2017

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

7 April 2017

A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

7 April 2017

Crystal structure of IRF-3 reveals mechanism of autoinhibition and virus-induced phosphoactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

7 April 2017

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

7 April 2017

Prediction of complete gene structures in human genomic DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

7 April 2017

Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

7 April 2017

Variation in IRF6 contributes to nonsyndromic cleft lip and palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

7 April 2017

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

7 April 2017

A human genome diversity cell line panel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

7 April 2017

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

7 April 2017

A familial case of popliteal pterygium syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

27 September 2017

Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

27 September 2017

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

27 September 2017

Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

27 September 2017

Orofacial clefting: recent insights into a complex trait

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

27 September 2017

Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

27 September 2017

Descriptive epidemiology of nonsyndromic cleft lip with or without cleft palate in Shanghai, China, from 1980 to 1989.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

27 September 2017

Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

27 September 2017

Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

27 September 2017

Stereochemical punctuation marks in protein structures: glycine and proline containing helix stop signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

27 September 2017

Incidence of cleft lip, cleft palate, and cleft lip and palate among races: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

27 September 2017

Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

27 September 2017

Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

30 May 2018

Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

30 May 2018

Clinical and epidemiologic studies of cleft lip and palate in the Philippines.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318197A49A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318197A49A

21 January 2018

Novel IRF6 mutations in Chinese patients with Van der Woude syndrome.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318197A49A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318197A49A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318197A49A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318197A49A

21 January 2018

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318197A49A

21 January 2018

Van-der-Woude-Syndrom

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318197A49A

21 January 2018

A novel mutation inIRF6 resulting in VWS–PPS spectrum disorder with renal aplasia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318197A49A

21 January 2018

Identification of IRF6 gene variants in three families with Van der Woude syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

28 November 2018

Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

28 November 2018

Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

28 November 2018

Classification and birth prevalence of orofacial clefts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2789395

28 November 2018

A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19282774

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19282774

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19282774

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations in the IRF6 gene for Van der Woude syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19282774

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial incidence of labial pits

1 reference

https://pubmed.ncbi.nlm.nih.gov/19282774

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lip pits and deletion 1q32----41

1 reference

https://pubmed.ncbi.nlm.nih.gov/19282774

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene symbol: IRF6. Disease: Van der Woude syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19282774

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1097/GIM.0B013E318197A49A

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Dimensions Publication ID

0 references

release_xm64npklazdzppcz4mc46xauni

1 reference

https://api.fatcat.wiki/v0/release/xm64npklazdzppcz4mc46xauni

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Springer Nature article ID

10.1097/gim.0b013e318197a49a

0 references

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