(Q34139369)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Kathleen Claes

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Periklis Makrythanasis

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Aurora Sanchez Diaz

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Sascha Vermeer

1 reference

ORCID Public Data File 2021

author name string

L Desmyter

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

M Ghassibe

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

N Revencu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

O Boute

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

M Lees

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

G François

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

C Verellen-Dumoulin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Y Sznajer

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

A Moncla

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

H Benateau

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

K Devriendt

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

M Mathieu

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

L Van Maldergem

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

M-C Addor

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

V Drouin-Garraud

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

G Mortier

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

M Bouma

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

A Dieux-Coeslier

19

1 reference

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15 January 2020

D Genevieve

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

A Goldenberg

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

A Gozu

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

U McEntagart

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

C Vilain

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

S Vermeer

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

F Connell

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

J Verheij

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

S Manouvrier

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

G Pierquin

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

S Odent

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

M Holder-Espinasse

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

C Vincent-Delorme

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Y Gillerot

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

R Vanwijck

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

B Bayet

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

publication date

9 June 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

published in

Molecular syndromology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

67-74

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

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

15 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

Maternal Interferon Regulatory Factor 6 is required for the differentiation of primary superficial epithelia in Danio and Xenopus embryos

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

Interferon regulatory factor 6 promotes cell cycle arrest and is regulated by the proteasome in a cell cycle-dependent manner

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

Variation in IRF6 contributes to nonsyndromic cleft lip and palate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

Fistula labii inferioris congenita and its association with cleft lip and palate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

PANTHER: a library of protein families and subfamilies indexed by function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

SIFT: Predicting amino acid changes that affect protein function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

Human non-synonymous SNPs: server and survey

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

Prediction of deleterious human alleles

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

Popliteal pterygium syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

Linkage disequilibrium between IRF6 variants and nonsyndromic cleft lip/palate in the Chilean population.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

Classification and birth prevalence of orofacial clefts

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941841

[Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome]

28 October 2018

1 reference

12 December 2020

Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America

1 reference

12 December 2020

Phenotypic variability in van der Woude syndrome

1 reference

12 December 2020

Novel mutations in the IRF6 gene for Van der Woude syndrome

1 reference

12 December 2020

[IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province]

1 reference

12 December 2020

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

1 reference

12 December 2020

Evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and isolate tooth agenesis, in a Turkish population

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

10.1159/000313786

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045959%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

PubMed publication ID

21045959

1 reference