(Q37116431)

18 August 2017

0 references

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

1 reference

18 August 2017

Van der Woude syndrome

1 reference

Ene-Choo Tan

1

1 reference

18 August 2017

Eileen Cp Lim

series ordinal

2

1 reference

18 August 2017

Seng-Teik Lee

series ordinal

3

1 reference

18 August 2017

language of work or name

1 reference

6 August 2013

1 reference

18 August 2017

Molecular Cytogenetics

1 reference

18 August 2017

6

1 reference

18 August 2017

31

1 reference

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751720

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751720

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751720

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751720

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751720

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751720

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751720

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751720

Van der Woude syndrome with mental retardation: case report

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751720

De novo interstitial deletion of 1q32.2-q32.3 including the entire IRF6 gene in a patient with oral cleft and other dysmorphic features

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23915469

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Lip pits and deletion 1q32----41

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23915469

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1755-8166-6-31

1 reference

Dimensions Publication ID

18 August 2017

0 references

1 reference

18 August 2017

PubMed publication ID

23915469

1 reference