Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

Item
http://www.wikidata.org/entity/Q38171457
Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmentiA healthy delivery of twins by assisted reproduction followed by preimplantation genetic screening in a woman with X-linked dominant incontinentia pigmenti.Structural Abnormalities of the Inner Macula in Incontinentia Pigmenti.Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-κBIKK-related genetic diseases: probing NF-κB functions in humans and other matters.EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.A method for the quantitative analysis of stimulation-induced nuclear translocation of the p65 subunit of NF-κB from patient-derived dermal fibroblastsOL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH.NEMO regulates a cell death switch in TNF signaling by inhibiting recruitment of RIPK3 to the cell death-inducing complex II.Incontinentia pigmenti: report on data from 2000 to 2013.Incontinentia pigmenti with secondary Raynaud's phenomenon: A case report and review of the literature.Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management.Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti.Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
P2860

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

Item
http://www.wikidata.org/entity/Q38171457
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Insight into IKBKG/NEMO locus: ...... ncontinentia pigmenti disease.
@en
type
label
Insight into IKBKG/NEMO locus: ...... ncontinentia pigmenti disease.
@en
prefLabel
Insight into IKBKG/NEMO locus: ...... ncontinentia pigmenti disease.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Insight into IKBKG/NEMO locus: ...... ncontinentia pigmenti disease.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698