相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Incontinentia pigmenti and the eye
Yasmin Florence Khodeja Islam et al.
CURRENT OPINION IN OPHTHALMOLOGY (2022)
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti
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JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2020)
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PEDIATRIC DERMATOLOGY (2016)
Incontinentia pigmenti diagnostic criteria update
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Blaschko lines and other patterns of cutaneous mosaicism
Vered Molho-Pessach et al.
CLINICS IN DERMATOLOGY (2011)
Increased nuchal translucency in euploid fetuses-what should we be telling the parents?
C. M. Bilardo et al.
PRENATAL DIAGNOSIS (2010)
NF-κB-related genetic diseases
G Courtois et al.
CELL DEATH AND DIFFERENTIATION (2006)
Two cases of misinterpretation of molecular results in incontinentia pligmenti, and a PCR-based method to discriminate NEMO/IKK gamma gene deletion
T Bardaro et al.
HUMAN MUTATION (2003)
Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology
AL Berlin et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2002)
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
S Aradhya et al.
HUMAN MOLECULAR GENETICS (2001)
A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations
S Aradhya et al.
HUMAN MOLECULAR GENETICS (2001)