(Q33726102)

28 July 2017

title

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

1 reference

28 July 2017

0 references

Van der Woude syndrome

1 reference

popliteal pterygium syndrome

inferred from title

1 reference

multiple pterygium syndrome

inferred from title

1 reference

1 reference

Peter A Mossey

2

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Adebowale A. Adeyemo

object named as

Adebowale A Adeyemo

20

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author name string

Azeez Butali

1

1 reference

28 July 2017

Wasiu L Adeyemo

3

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28 July 2017

Mekonen A Eshete

4

1 reference

28 July 2017

LauRen A Gaines

5

1 reference

28 July 2017

Dee Even

6

1 reference

28 July 2017

Ramat O Braimah

7

1 reference

28 July 2017

Babatunde S Aregbesola

8

1 reference

28 July 2017

Jennifer V Rigdon

9

1 reference

28 July 2017

Christian I Emeka

10

1 reference

28 July 2017

Olutayo James

11

1 reference

28 July 2017

Mobolanle O Ogunlewe

12

1 reference

28 July 2017

Akinola L Ladeinde

13

1 reference

28 July 2017

Fikre Abate

14

1 reference

28 July 2017

Taye Hailu

15

1 reference

28 July 2017

Ibrahim Mohammed

16

1 reference

28 July 2017

Paul E Gravem

17

1 reference

28 July 2017

Milliard Deribew

18

1 reference

28 July 2017

Mulualem Gesses

19

1 reference

28 July 2017

Jeffrey C Murray

21

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28 July 2017

publication date

27 January 2014

1 reference

Molecular genetics & genomic medicine

28 July 2017

published in

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28 July 2017

volume

2

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28 July 2017

issue

3

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28 July 2017

page(s)

254-260

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De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

Van der Woude syndrome: dentofacial features and implications for clinical practice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

A method and server for predicting damaging missense mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

Popliteal pterygium syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMGG3.66

Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

Novel IRF6 mutations in Honduran Van der Woude syndrome patients.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049366

Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24936515

12 December 2020

inferred from PubMed ID database lookup

A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24936515

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1002/MGG3.66

1 reference

28 July 2017

1 reference

28 July 2017

1 reference