(Q28291147)

22

0 references

Jacinta Bustamante

object named as

Jacinta Bustamante

9

0 references

Harry Malech

object named as

Harry L Malech

19

0 references

Joachim Roesler

4

object named as

Joachim Roesler

0 references

author name string

Dirk Roos

1

0 references

Douglas B Kuhns

2

0 references

Anne Maddalena

3

0 references

Juan Alvaro Lopez

5

0 references

Tadashi Ariga

6

0 references

Tadej Avcin

7

0 references

Martin de Boer

8

0 references

Antonio Condino-Neto

10

0 references

Gigliola Di Matteo

11

0 references

Jianxin He

12

0 references

Harry R Hill

13

0 references

Steven M Holland

14

0 references

M Yavuz Köker

16

0 references

Irina Kondratenko

17

0 references

Karin van Leeuwen

18

0 references

László Marodi

20

0 references

Hiroyuki Nunoi

21

0 references

Anna Maria Ventura

23

0 references

Carl T Witwer

24

0 references

Baruch Wolach

25

0 references

John I Gallin

Blood Cells, Molecules and Diseases

26

0 references

language of work or name

English

0 references

publication date

15 October 2010

0 references

published in

0 references

volume

45

0 references

issue

3

0 references

page(s)

246-65

0 references

cites work

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First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families

20 March 2017

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Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry

20 March 2017

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Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease

20 March 2017

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Mutation at histidine 338 of gp91(phox) depletes FAD and affects expression of cytochrome b558 of the human NADPH oxidase

20 March 2017

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Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers

20 March 2017

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PU.1 as an essential activator for the expression of gp91(phox) gene in human peripheral neutrophils, monocytes, and B lymphocytes

20 March 2017

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X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

20 March 2017

1 reference

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An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity

20 March 2017

1 reference

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A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox

20 March 2017

1 reference

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A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease

20 March 2017

1 reference

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Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease

20 March 2017

1 reference

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A 40-base-pair duplication in the gp91-phox gene leading to X-linked chronic granulomatous disease

20 March 2017

1 reference

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A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease

20 March 2017

1 reference

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease

20 March 2017

1 reference

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

20 March 2017

1 reference

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Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting

7 April 2017

1 reference

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Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study

29 September 2017

1 reference

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X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation

29 September 2017

1 reference

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Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Genetics and immunopathology of chronic granulomatous disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases

29 September 2017

1 reference

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Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Evidence consistent with human L1 retrotransposition in maternal meiosis I.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Hematologically important mutations: X-linked chronic granulomatous disease (second update).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

A 25-kb deletion in the 5' region of the cytochrome b558 heavy chain gene (CYBB) in a patient with X-linked chronic granulomatous disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Detection of gp91-phox precursor protein in B-cell lines from patients with X-linked chronic granulomatous disease as an indicator for mutations impairing cytochrome b558 biosynthesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Chronic granulomatous disease: the solving of a clinical riddle at the molecular level

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

The genetic basis of chronic granulomatous disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Chronic granulomatosis: a rare differential diagnosis in liver granulomas in adulthood

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Nonsense mutations of the CYBB gene in two Thai families with X-linked chronic granulomatous disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Severe Clinical Forms of Cytochromeb–Negative Chronic Granulomatous Disease (X91−) in 3 Brothers with a Point Mutation in the Promoter Region ofCYBB

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Chronic Granulomatous Disease Presenting in a 69-Year-Old Man

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

A novel point mutation in the CYBB gene promoter leading to a rare X minus chronic granulomatous disease variant--impact on the microbicidal activity of neutrophils.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Ocular manifestations in chronic granulomatous disease in Saudi Arabia

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Diffuse interstitial pneumonia and pulmonary hypertension: a novel manifestation of chronic granulomatous disease.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

A novel mutation of the CYBB gene resulting in severe form of X-linked chronic granulomatous disease.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Molecular diagnosis of X-linked chronic granulomatous disease in Iran.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Mutations of chronic granulomatous disease in Turkish families.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

BCG-osis and tuberculosis in a child with chronic granulomatous disease

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Severe X-linked chronic granulomatous disease in two unrelated females.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Distribution, infections, treatments and molecular analysis in a large cohort of patients with primary immunodeficiency diseases (PIDs) in Taiwan.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD).

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Acute lymphoblastic leukemia in a patient with chronic granulomatous disease and a novel mutation in CYBB: first report

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Chronic granulomatous disease in Latin American patients: clinical spectrum and molecular genetics

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

The search for a genetic defect in Polish patients with chronic granulomatous disease.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

X-linked chronic granulomatous disease: first report of mutations in patients of Argentina

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

CYBB mutation analysis in X-linked chronic granulomatous disease

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Molecular quality control machinery contributes to the leukocyte NADPH oxidase deficiency in chronic granulomatous disease

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Unusual late onset of X-linked chronic granulomatous disease in an adult woman after unsuspicious childhood

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Molecular analysis in three cases of X91- variant chronic granulomatous disease

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360070

Missense mutations in the gp91-phox gene encoding cytochrome b558 in patients with cytochrome b positive and negative X-linked chronic granulomatous disease

27 November 2018

1 reference

12 December 2020

Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease

1 reference

12 December 2020

A novel mutation in the CYBB gene resulting in an unexpected pattern of exon skipping and chronic granulomatous disease

1 reference

12 December 2020

Four novel mutations in the gene encoding gp91-phox of human NADPH oxidase: consequences for oxidase assembly

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 new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease

1 reference

12 December 2020

Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease

1 reference

12 December 2020

Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization

1 reference

12 December 2020

Studying X inactivation

1 reference

12 December 2020

Splice site mutations are a common cause of X-linked chronic granulomatous disease

1 reference

12 December 2020

Lymphadenopathy After BCG Vaccination in a Child with Chronic Granulomatous Disease

1 reference

12 December 2020

CYBB Gene Mutation Detection in an Iranian Patient with Chronic Granulomatous Disease

1 reference

12 December 2020

X-linked chronic granulomatous disease (CGD) caused by an intra-exonic splice mutation (CYBB exon 3, c.262G->A) is mimicking juvenile sarcoidosis

1 reference

12 December 2020

RFLP and deletion analysis for X-linked chronic granulomatous disease using the cDNA probe: potential for improved prenatal diagnosis and carrier determination

1 reference

12 December 2020

Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus

1 reference

12 December 2020

Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype

1 reference

12 December 2020

Assessment of the contribution of the cytochrome b moiety of the NADPH oxidase to the transmembrane H+ conductance of leukocytes

1 reference

12 December 2020

A 15-base pair (bp) palindromic insertion associated with a 3-bp deletion in exon 10 of the gp91-phox gene, detected in two patients with X-linked chronic granulomatous disease

1 reference

12 December 2020

A variant X-linked chronic granulomatous disease patient (X91+) with partially functional cytochrome b

1 reference

12 December 2020

Human peripheral eosinophils have a specific mechanism to express gp91-phox, the large subunit of cytochrome b558

1 reference

12 December 2020

A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease

1 reference

12 December 2020

Molecular genetic studies of two families with X-linked chronic granulomatous disease: mutation analysis and definitive determination of carrier status in patients' sisters

1 reference

12 December 2020

Chronic granulomatous disease

1 reference

12 December 2020

A novel polymorphism in the coding region of CYBB, the human gp91-phox gene

1 reference

12 December 2020

Somatic triple mosaicism in a carrier of X-linked chronic granulomatous disease

1 reference

12 December 2020

A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease

1 reference

12 December 2020

Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox

1 reference

12 December 2020

10.1016/J.BCMD.2010.07.012

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

20729109

1 reference