IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families (Q36665214)

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23 February 2020

title

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

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1

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Kaare Christensen

7

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author name string

D C Koboldt

2

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C J Kang

3

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L Ma

4

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J T Hecht

5

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G L Wehby

6

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A E Czeizel

8

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F W-B Deleyiannis

9

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R S Fulton

10

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R K Wilson

11

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T H Beaty

12

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B C Schutte

13

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J C Murray

14

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M L Marazita

15

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publication date

1 October 2015

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23 February 2020

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23 February 2020

volume

90

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page(s)

28-34

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issue

1

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IRF6 Sequencing in Interrupted Clefting

23 February 2020

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

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

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

30 September 2017

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Rare variant analysis for family-based design

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

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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.

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

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

30 September 2017

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

30 September 2017

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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

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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

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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

30 September 2017

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

30 September 2017

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

30 September 2017

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Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

30 September 2017

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

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Genetic analysis in families with van der Woude syndrome.

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

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

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

20 September 2018

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Considerations for a multiaxis nomenclature system for medical genetics.

20 September 2018

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

20 September 2018

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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

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

IRF6 mutations in mixed isolated familial clefting

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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

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12 December 2020

Identifiers

DOI

10.1111/CGE.12675

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23 February 2020

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23 February 2020

1 reference

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