(Q28260493)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937026%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937026%20AND%20SRC:MED&resulttype=core&format=json

chronic granulomatous disease

29 December 2019

main subject

1 reference

1 reference

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937026%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

El Kares R

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937026%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Barbouche MR

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937026%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Elloumi-Zghal H

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937026%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Bejaoui M

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937026%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Chemli J

5

1 reference

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29 December 2019

Mellouli F

6

1 reference

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29 December 2019

Tebib N

7

1 reference

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29 December 2019

Abdelmoula MS

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937026%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Boukthir S

9

1 reference

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29 December 2019

Fitouri Z

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937026%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

M'Rad S

11

1 reference

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29 December 2019

Bouslama K

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937026%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Touiri H

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937026%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Dellagi MK

15

1 reference

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29 December 2019

language of work or name

English

0 references

publication date

26 August 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937026%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

29 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937026%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

volume

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16937026%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

issue

10

1 reference

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29 December 2019

page(s)

887-895

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10038-006-0039-8

29 December 2019

exact match

0 references

cites work

The O2- generating oxidase of B lymphocytes: Epstein-Barr virus-immortalized B lymphocytes as a tool for the identification of defective components of the oxidase in chronic granulomatous disease

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-006-0039-8

p40phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-006-0039-8

Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.

21 January 2018

1 reference

12 December 2020

Consanguinity in the population of northern Tunisia

1 reference

12 December 2020

Leukocyte oxidase: defective activity in chronic granulomatous disease

1 reference

12 December 2020

Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes

1 reference

12 December 2020

A mutation located at the 5' splice junction sequence of intron 3 in the p67phox gene causes the lack of p67phox mRNA in a patient with chronic granulomatous disease

1 reference

12 December 2020

The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex

1 reference

12 December 2020

Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat

1 reference

12 December 2020

Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency

1 reference

12 December 2020

A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers

1 reference

12 December 2020

NADPH oxidase: an update

1 reference

12 December 2020

Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence.

1 reference

12 December 2020

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update).

1 reference

12 December 2020

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

12 December 2020

Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system

1 reference

12 December 2020

Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.

1 reference

12 December 2020

Prevalence, genetics and clinical presentation of chronic granulomatous disease in Sweden.

1 reference

12 December 2020

Rac translocates independently of the neutrophil NADPH oxidase components p47phox and p67phox. Evidence for its interaction with flavocytochrome b558.

1 reference

12 December 2020

[Chronic septic granulomatous disease. 14 cases].

1 reference

12 December 2020

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

1 reference

12 December 2020

Genomic structure of the human p47-phox (NCF1) gene

1 reference

12 December 2020

Characterization of an apparent hotspot for spontaneous mutation in exon 5 of the Chinese hamster APRT gene

1 reference

12 December 2020

Chronic granulomatous disease

1 reference

12 December 2020

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

12 December 2020

Regulation of phagocyte oxygen radical production by the GTP-binding protein Rac 2

1 reference

12 December 2020

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

1 reference

12 December 2020

Twin genes and endocrine disease: CYP21 and CYP11B genes

1 reference

12 December 2020

A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease

1 reference

12 December 2020

Characterization of the p67phox gene: genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease

1 reference

12 December 2020

The human glucocerebrosidase gene and pseudogene: structure and evolution

1 reference

12 December 2020

Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease

1 reference

12 December 2020

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

12 December 2020

A novel cytosolic component, p40phox, of respiratory burst oxidase associates with p67phox and is absent in patients with chronic granulomatous disease who lack p67phox

1 reference

12 December 2020

Regulation of the human neutrophil NADPH oxidase by rho-related G-proteins

1 reference

12 December 2020

Chronic granulomatous disease: mutations in cytochrome b558.

1 reference

12 December 2020

Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile

1 reference

12 December 2020

Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection

1 reference

12 December 2020