Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism

[1]  T. Yokoi,et al.  Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti , 2020, Japanese Journal of Ophthalmology.

[2]  F. Fusco,et al.  Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males , 2017, Pediatrics.

[3]  H. Huras,et al.  Double hit of NEMO gene in preeclampsia , 2017, PloS one.

[4]  G. Arno,et al.  Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti , 2015, American journal of medical genetics. Part A.

[5]  M. Wataya-Kaneda,et al.  NEMO gene rearrangement (exon 4–10 deletion) and genotype–phenotype relationship in Japanese patients with incontinentia pigmenti and review of published work in Japanese patients , 2013, The Journal of dermatology.

[6]  F. Fusco,et al.  Clinical Utility Gene Card for: incontinentia pigmenti , 2012, European Journal of Human Genetics.

[7]  C. Zou,et al.  Clinical and molecular analysis of NF‐κB essential modulator in Chinese incontinentia pigmenti patients , 2007, International journal of dermatology.

[8]  Jack A. M. Leunissen,et al.  Turning CFCs into salt. , 1996, Nucleic Acids Res..

[9]  F. Fusco,et al.  Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene. , 2006, Gene.

[10]  A. Smahi,et al.  A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti , 2004, Prenatal diagnosis.

[11]  M. D'urso,et al.  Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR‐based method to discriminate NEMO/IKKγ dene deletion , 2003, Human mutation.

[12]  A. Paller,et al.  Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. , 2002, Journal of the American Academy of Dermatology.

[13]  A. Ciccodicola,et al.  Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. , 2001, Human molecular genetics.

[14]  C. Shaw,et al.  A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. , 2001, Human molecular genetics.

[15]  A. Fischer,et al.  X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling , 2001, Nature Genetics.

[16]  S. Klauck,et al.  Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti , 2000, Nature.

[17]  E. Haan,et al.  X‐inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation , 1999, Clinical genetics.

[18]  D. Nelson,et al.  Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2. , 1996, Human molecular genetics.

[19]  M. Goldberg,et al.  Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). , 1993, Ophthalmology.

[20]  R. G. Carney.  Incontinentia pigmenti. A world statistical analysis. , 1976, Archives of dermatology.

[21]  M. Kharrat,et al.  Prevalence of BRCA1 and BRCA2 large genomic rearrangements in Tunisian high risk breast/ovarian cancer families: Implications for genetic testing. , 2017, Cancer genetics.

[22]  V. Narayanan,et al.  Incontinentia pigmenti (Bloch-Sulzberger syndrome). , 2015, Handbook of clinical neurology.

[23]  S Rozen,et al.  Primer3 on the WWW for general users and for biologist programmers. , 2000, Methods in molecular biology.

[24]  Thomas D. Schmittgen,et al.  Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2 2 DD C T Method , 2022 .