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Incontinentia Pigmenti In a Female Infant: A Case Report

Skin (Milwood, N.Y.), 2024-05, Vol.8 (3), p.1542-1547

2024

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

Journal of human genetics, 2021-02, Vol.66 (2), p.205-214

2021

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A hypermorphic I Kappa B alpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

The Journal of clinical investigation, 2003-10, Vol.112 (7), p.1108-1115

2003

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Thrombocytosis and eosinophilia in 32 Chinese neonatal incontinentia pigmenti

International journal of dermatology, 2023-08, Vol.62 (8), p.1026-1033

2023

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CRISPR/Cas9-based editing of a sensitive transcriptional regulatory element to achieve cell type-specific knockdown of the NEMO scaffold protein

PloS one, 2019-09, Vol.14 (9), p.e0222588-e0222588

2019

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NEMO Gene Mutations in Two Chinese Females with Incontinentia Pigmenti

Clinical, cosmetic and investigational dermatology, 2022-05, Vol.15, p.815-821

2022

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Gene therapy decreases seizures in a model of Incontinentia pigmenti

Annals of neurology, 2017-07, Vol.82 (1), p.93-104

2017

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Pathology, Enzyme Activity and Immune Responses after Cryptocaryon irritans Infection of Golden Pompano Trachinotus ovatus (Linnaeus 1758)

Journal of marine science and engineering, 2023-02, Vol.11 (2), p.262

2023

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A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene

Egyptian Journal of Medical Human Genetics, 2022-01, Vol.23 (1), p.6, Article 6

2022

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Double hit of NEMO gene in preeclampsia

PloS one, 2017-06, Vol.12 (6), p.e0180065-e0180065

2017

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Finding NEMO in preeclampsia

American journal of obstetrics and gynecology, 2016-04, Vol.214 (4), p.538.e1-538.e7

2016

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Incontinentia Pigmenti: A Case Report of Early Clinical Symptoms in a Lack of Family Inheritance Positive Result

Clinical, cosmetic and investigational dermatology, 2023-01, Vol.16, p.1209-1214

2023

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Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease

PloS one, 2014-01, Vol.9 (1), p.e87771

2014

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Molecular analysis of low‐level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti

Molecular genetics & genomic medicine, 2020-12, Vol.8 (12), p.e1531-n/a

2020

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NEMO/IKKγ-Deficient Mice Model Incontinentia Pigmenti

Molecular cell, 2000-06, Vol.5 (6), p.981-992

2000

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Incontinentia pigmenti in a male (XY) infant with long‐term follow up over 8 years

Journal of dermatology, 2018-01, Vol.45 (1), p.100-103

2018

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Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotype

The Pediatric infectious disease journal, 2013-09, Vol.32 (9), p.1010-1016

2013

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Cutaneous squamous cell carcinoma, thyroid cancer and Langerhans cell histiocytosis in a patient with X‐linked recessive Mendelian susceptibility to mycobacterial diseases with a nuclear factor‐κB essential modifier mutation

Journal of dermatology, 2018-08, Vol.45 (8), p.1017-1019

2018

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Unusual hyperpigmented patches, an undeveloped breast and a cataract in a female with incontinentia pigmenti

Journal of dermatology, 2014-04, Vol.41 (4), p.325-328

2014

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Clinical and Host Genetic Characteristics of Mendelian Susceptibility to Mycobacterial Diseases in Japan

Journal of clinical immunology, 2011-06, Vol.31 (3), p.309-314

2011

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

Human molecular genetics, 2001-09, Vol.10 (19), p.2171-2179

2001

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NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association

Lupus, 2012-05, Vol.21 (6), p.675-681

2012

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Drosophila Nemo Promotes Eye Specification Directed by the Retinal Determination Gene Network

Genetics (Austin), 2008-09, Vol.180 (1), p.283-299

2008

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

American journal of human genetics, 2001-03, Vol.68 (3), p.765-771

2001

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Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

Human molecular genetics, 2001-10, Vol.10 (22), p.2557-2567

2001

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Incontinentia Pigmenti In a Female Infant: A Case Report

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

A hypermorphic I Kappa B alpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

Thrombocytosis and eosinophilia in 32 Chinese neonatal incontinentia pigmenti

CRISPR/Cas9-based editing of a sensitive transcriptional regulatory element to achieve cell type-specific knockdown of the NEMO scaffold protein

NEMO Gene Mutations in Two Chinese Females with Incontinentia Pigmenti

Gene therapy decreases seizures in a model of Incontinentia pigmenti

Pathology, Enzyme Activity and Immune Responses after Cryptocaryon irritans Infection of Golden Pompano Trachinotus ovatus (Linnaeus 1758)

A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene

Double hit of NEMO gene in preeclampsia

Finding NEMO in preeclampsia

Incontinentia Pigmenti: A Case Report of Early Clinical Symptoms in a Lack of Family Inheritance Positive Result

Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease

Molecular analysis of low‐level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti

NEMO/IKKγ-Deficient Mice Model Incontinentia Pigmenti

Incontinentia pigmenti in a male (XY) infant with long‐term follow up over 8 years

Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotype

Cutaneous squamous cell carcinoma, thyroid cancer and Langerhans cell histiocytosis in a patient with X‐linked recessive Mendelian susceptibility to mycobacterial diseases with a nuclear factor‐κB essential modifier mutation

Unusual hyperpigmented patches, an undeveloped breast and a cataract in a female with incontinentia pigmenti

Clinical and Host Genetic Characteristics of Mendelian Susceptibility to Mycobacterial Diseases in Japan

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

NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association

Drosophila Nemo Promotes Eye Specification Directed by the Retinal Determination Gene Network

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

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

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