NEMO Gene Mutations in Chinese Patients With Incontinentia Pigmenti

Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti

Asma Smahi, Nina S. Heiss, Petra Kioschis et al. · Nature · 2000 · 743 citations

Life Sciences, Genetics, Molecular Biology +11

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

Swaroop Aradhya · Human Molecular Genetics · 2001 · 186 citations

Life Sciences, Genetics, Molecular Genetics +16

Whole-genome shotgun assembly and comparison of human genome assemblies

Sorin Istrail, Granger G. Sutton, Liliana Florea et al. · Proceedings of the National Academy of Sciences · 2004 · 184 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

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

Francesca Fusco · Human Molecular Genetics · 2004 · 158 citations · Full text

Life Sciences, Dermatology, Genetics +14

Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-γ)

Swaroop Aradhya, Gilles Courtois, Aleks Rajkovic et al. · The American Journal of Human Genetics · 2001 · 141 citations · Full text

Medicine, Genetics, Molecular Genetics +8