(Q37044332)

17 August 2017

Clinical Utility Gene Card for: incontinentia pigmenti (English)

1 reference

17 August 2017

Julie Steffann

3

0 references

Jean-Paul Bonnefont

object named as

Jean-Paul Bonnefont

5

0 references

Matilde Valeria Ursini

6

object named as

Matilde Valeria Ursini

1 reference

17 August 2017

Francesca Fusco

1

1 reference

17 August 2017

Alessandra Pescatore

2

1 reference

17 August 2017

Ghislaine Royer

4

1 reference

17 August 2017

10 October 2012

1 reference

European Journal of Human Genetics

17 August 2017

1 reference

17 August 2017

21

1 reference

17 August 2017

7

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.227

17 August 2017

0 references

cites work

NEMO, NFkappaB signaling and incontinentia pigmenti

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722938

29 September 2017

Signaling to NF-kappaB

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722938

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722938

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722938

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722938

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722938

Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722938

Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722938

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722938

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722938

Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722938

Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722938

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722938

Clinical Study of 40 Cases of Incontinentia Pigmenti

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.227

21 January 2018

Identifiers

DOI

10.1038/EJHG.2012.227

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

23047738

1 reference