Associated Papers
Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing.
Hsu AP et al.
Frontiers in Immunology, 2025
Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience.
Akar HT et al.
Journal of Clinical Immunology, 2021
Genetic Characteristics, Infectious, and Noninfectious Manifestations of 32 Patients with Chronic Granulomatous Disease.
Aygun D et al.
International Archives of Allergy and Immunology, 2020
Novel Diagnostic Tool for p47 phox -Deficient Chronic Granulomatous Disease Patient and Carrier Detection.
Wrona D et al.
Molecular Therapy. Methods & Clinical Development, 2019
30859112 (PubMed )
Supplement: mmc2.xls › List_of_carriers_and_patients
Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients.
Kulkarni M et al.
Journal of Clinical Immunology, 2018
Splicing dysfunction and disease: The case of granulopoiesis.
Keightley MC et al.
Seminars in Cell & Developmental Biology, 2018
Molecular profiling of endometrial carcinoma precursor, primary and metastatic lesions suggests different targets for treatment in obese compared to non-obese patients.
Berg A et al.
Oncotarget, 2015
25415225 (PubMed )
Supplement: oncotarget-06-1327-s002.xlsx › Sheet1
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-12.xlsx › S_Data_11
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2010
Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease.
Freudenberg F et al.
The Journal of Allergy and Clinical Immunology, 2010
Mutations of chronic granulomatous disease in Turkish families.
Köker MY et al.
European Journal of Clinical Investigation, 2007
Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.
Roos D et al.
Human Mutation, 2006
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