Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Inborn errors of immunity with atopic phenotype: what we know so far.
Taietti I et al.
Expert Review of Clinical Immunology, 2025
Clinical relevance of loss-of-function mutations of NEMO/IKBKG.
Wang J et al.
Genes & Diseases, 2025
Exome Sequencing Studies in Syndromic Patients With Cleft Lip and/or Palate: Systematic Review.
Cárdenas-Nieto D et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2025
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.
Garcia-Prat M et al.
Journal of Clinical Immunology, 2024
Identification of novel candidate genes associated with meiotic aneuploidy in human embryos by whole-exome sequencing.
Lledo B et al.
Journal of Assisted Reproduction and Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.
Boisson B et al.
The Journal of Clinical Investigation, 2019
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
Rudilla F et al.
Frontiers in Immunology, 2019
NEMO Links Nuclear Factor-κB to Human Diseases.
Maubach G et al.
Trends in Molecular Medicine, 2017
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.
Frans G et al.
Journal of Clinical Immunology, 2017
Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4+ Lymphopenia and Secondary Germline or Acquired Defects.
Panackal AA et al.
Open Forum Infectious Diseases, 2017
Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.
Pengelly RJ et al.
Clinical Genetics, 2015
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.
Conte MI et al.
Human Mutation, 2014
Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology.
Gautheron J et al.
Human Molecular Genetics, 2010
[An incontinentia pigmenti family with deletion in both NEMO gene and pseudogene DeltaNEMO].
Zhang G et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Fusco F et al.
Human Mutation, 2008
NF-kappaB-related genetic diseases.
Courtois G et al.
Cell Death and Differentiation, 2006
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.
Puel A et al.
American Journal of Human Genetics, 2006
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.
Fusco F et al.
Human Molecular Genetics, 2004
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.
Aradhya S et al.
Human Molecular Genetics, 2001