(Q36665214)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26346622%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families (English)

1 reference

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23 February 2020

1

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23 February 2020

Kaare Christensen

7

1 reference

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23 February 2020

author name string

D C Koboldt

2

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23 February 2020

C J Kang

3

1 reference

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23 February 2020

L Ma

4

1 reference

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23 February 2020

J T Hecht

5

1 reference

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23 February 2020

G L Wehby

6

1 reference

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23 February 2020

A E Czeizel

8

1 reference

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23 February 2020

F W-B Deleyiannis

9

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23 February 2020

R S Fulton

10

1 reference

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23 February 2020

R K Wilson

11

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23 February 2020

T H Beaty

12

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23 February 2020

B C Schutte

13

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23 February 2020

J C Murray

14

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23 February 2020

M L Marazita

15

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23 February 2020

publication date

1 October 2015

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23 February 2020

1 reference

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23 February 2020

volume

90

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23 February 2020

issue

1

1 reference

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23 February 2020

page(s)

28-34

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26346622%20AND%20SRC:MED&resulttype=core&format=json

IRF6 Sequencing in Interrupted Clefting

23 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Genetics of cleft lip and cleft palate.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Rare variant analysis for family-based design

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

The evolution of human genetic studies of cleft lip and cleft palate

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

The human genome browser at UCSC

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Structure of IRF-1 with bound DNA reveals determinants of interferon regulation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Genetic studies of a cleft palate clinic population

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Genetic analysis in families with van der Woude syndrome.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Considerations for a multiaxis nomenclature system for medical genetics.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4783275

Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes

20 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FCGE.12675

Novel mutations inIRF6in nonsyndromic cleft lip with or without cleft palate: When shouldIRF6mutational screening be done?

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FCGE.12675

Relationship between lower-lip fistulae and cleft lip and/or palate in Von der Woude syndrome

21 January 2018

1 reference

12 December 2020

Lower lip sinuses: I. Epidemiology, microforms and transverse sulci

1 reference

12 December 2020

Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate

1 reference

12 December 2020

Genetic epidemiology and control of genetic expression in van der Woude syndrome

1 reference

12 December 2020

Association of common variants, not rare mutations, in IRF6 with nonsyndromic clefts in a Honduran population

1 reference

12 December 2020

IRF6 mutations in mixed isolated familial clefting

1 reference

12 December 2020

Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance

1 reference

12 December 2020

Identifiers

DOI

10.1111/CGE.12675

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26346622%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26346622%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26346622%20AND%20SRC:MED&resulttype=core&format=json